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	<title>Embryology - User contributions [en-gb]</title>
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	<updated>2026-09-18T20:44:08Z</updated>
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		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=User:Z3217043&amp;diff=79966</id>
		<title>User:Z3217043</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=User:Z3217043&amp;diff=79966"/>
		<updated>2011-10-28T07:20:29Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: &lt;/p&gt;
&lt;hr /&gt;
&lt;div&gt;{{2011Student}}&lt;br /&gt;
&lt;br /&gt;
== LAB ATTENDANCE ==&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:35, 20 October 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:20, 6 October 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:21, 29 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 10:59, 15 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:09, 1 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:09, 25 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:07, 18 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:40, 11 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:11, 4 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|Z3217043]] 12:55, 28 July 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 12 ==&lt;br /&gt;
&lt;br /&gt;
Give examples of 3 systems that continue to develop postnatally. &lt;br /&gt;
&lt;br /&gt;
Cardiovascular, Respiratory and Gastrointestinal systems.&lt;br /&gt;
&lt;br /&gt;
Identify the abnormalities detected by the Guthrie Test and link to one abnormality listed in OMIM. &lt;br /&gt;
&lt;br /&gt;
PKU, Hyperthyroidism and Cystic Fibrosis [http://www.omim.org/entry/219700]&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 11 ==&lt;br /&gt;
&lt;br /&gt;
1.Name the components that give rise to the interatrial septum and the passages that connect the right and left atria. &lt;br /&gt;
&lt;br /&gt;
Septum Primum and Septum Secundum form the interatrial septum. Foramen Ovale and Foramen Secundum form the passages between the right and left atria.&lt;br /&gt;
&lt;br /&gt;
2.Identify the cardiac defects that arise through abnormal development of the outflow tract &lt;br /&gt;
&lt;br /&gt;
Truncus Arteriosus and Ventricular Septal defects.&lt;br /&gt;
&lt;br /&gt;
== Group Project Contribution ==&lt;br /&gt;
&lt;br /&gt;
I contributed to the Treatment and Introduction sections. I edited all my work in Word before I added it to the group page to avoid leaving the editing sections open for too long.&lt;br /&gt;
&lt;br /&gt;
I also formatted all of the references so there was no double ups and editted the website for grammer and sentence structure. This is as of the 13/10/2011. &lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 10 ==&lt;br /&gt;
&lt;br /&gt;
1.Besides fetal alcohol syndrome, identify another environmental teratogen that can lead to hearing loss. &lt;br /&gt;
&lt;br /&gt;
Maternal Diabetes&lt;br /&gt;
&lt;br /&gt;
2.Identify 3 factors that contribute to poor neonatal drainage of the middle ear. &lt;br /&gt;
&lt;br /&gt;
Opened by only the tensor palatini muscle, narrow and almost horizontal. &lt;br /&gt;
&lt;br /&gt;
3.Identify 1 genetic abnormality that affects hearing development and link to the OMIM record. (Your individual abnormality should be different from all other students)&lt;br /&gt;
&lt;br /&gt;
FIBROBLAST GROWTH FACTOR 3; FGF3 [http://www.omim.org/entry/164950]&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 8 ==&lt;br /&gt;
&lt;br /&gt;
Group 2 Peer Review&lt;br /&gt;
&lt;br /&gt;
:*The first three sentences about congenital disease is misplaced. This should be in your glossary, not in your very first sentences. &lt;br /&gt;
&lt;br /&gt;
:*The common symptoms could be left out of the introduction and discussed in the appropriate section. &lt;br /&gt;
&lt;br /&gt;
:*Written like an essay rather than a webpage. Language such as “for example” not necessary. &lt;br /&gt;
&lt;br /&gt;
:*Clinical Diagnosis was well structured and good use of pictures. &lt;br /&gt;
&lt;br /&gt;
:*Clinical Manifestations could be simplified slightly in the table. &lt;br /&gt;
&lt;br /&gt;
:*Some references need to be adjusted rather than just a web address.&lt;br /&gt;
&lt;br /&gt;
Group 3 Peer Review&lt;br /&gt;
&lt;br /&gt;
:*The first paragraph is not necessary, talk about Klinefelter’s specifically not about sex chromosomes. This can be discussed further in the webpage. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs and other formatting looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*Great historic information but could be integrated into the timeline instead of having large paragraphs and a timeline. &lt;br /&gt;
&lt;br /&gt;
:*Really liked “other similar disorders”. Great idea. &lt;br /&gt;
&lt;br /&gt;
:*Some references need to be fixed so there is not double ups in the reference list.&lt;br /&gt;
&lt;br /&gt;
Group 4 Peer Review&lt;br /&gt;
&lt;br /&gt;
:* History could be adapted into the timeline. Unnecessary for both.&lt;br /&gt;
&lt;br /&gt;
:*The table of medications in treatments is slightly hard to follow. Perhaps some use of bolding or different font sizes would make it easier to read. &lt;br /&gt;
&lt;br /&gt;
:* Great use of images. Make sure they are formatted correctly. In the Tetrabenezine section the image is large and cuts off one sentence which is then placed under the image which makes it look like a caption.&lt;br /&gt;
&lt;br /&gt;
:* Some references are missing entirely. Make sure the referencing is uniform. Review list and fix up double references. &lt;br /&gt;
&lt;br /&gt;
Group 5 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*The lone sentence at the beginning of the history is unnecessary. &lt;br /&gt;
&lt;br /&gt;
:*Essay language such as “for example” is a bit out of place on a wiki page. Tailor language to a web page. &lt;br /&gt;
&lt;br /&gt;
:*In the epidemiology section some statements are not referenced. Where are these ‘examples’ coming from? &lt;br /&gt;
&lt;br /&gt;
:*Research section would benefit from the bolding of paper headings or authors names. &lt;br /&gt;
&lt;br /&gt;
:*Glossary could be expanded, very minimal. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. &lt;br /&gt;
&lt;br /&gt;
Group 6 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*Introduction does not flow very well. Sentences are very choppy. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit from a timeline rather than paragraphs as it is a bit hard to follow. &lt;br /&gt;
&lt;br /&gt;
:*In the epidemiology and symptoms sections need some more content. Seems very minimal. Also images? &lt;br /&gt;
&lt;br /&gt;
:*Diagnostic section needs the rest of the information added to its table. “Insert text here”. Also use of bolding or different font sizes would benefit this table. &lt;br /&gt;
&lt;br /&gt;
:*Glossary could be expanded, very minimal. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. &lt;br /&gt;
&lt;br /&gt;
Group 7 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit by placing the information into the timeline rather than paragraphs as it is a bit hard to follow. &lt;br /&gt;
&lt;br /&gt;
:*In the epidemiology, aetiology and complications sections need some more content. Seems very minimal. The table in aetiology could be explained much better. &lt;br /&gt;
&lt;br /&gt;
:*Seems to be too many sections with only a small amount of content. These could be merged as some headings fit under a broader heading. This would make the page seem more content filled and give it a better flow. &lt;br /&gt;
&lt;br /&gt;
:*Glossary could be expanded. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. Double ups need to be fixed. &lt;br /&gt;
&lt;br /&gt;
Group 8 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit by placing the information into the timeline rather than paragraphs as it is a bit hard to follow. Could also be expanded. &lt;br /&gt;
&lt;br /&gt;
:*In the epidemiology section the subheadings do not present the information in the best way possible. It makes it look like there is a lack of research into this area. Perhaps combining into paragraphs, or adding more information to each subheading. &lt;br /&gt;
&lt;br /&gt;
:*The pathogenesis section needs some additional information. &lt;br /&gt;
&lt;br /&gt;
:*Further explanation of terms in the symptoms section is needed as the web page is aimed at those that may not have a clinical knowledge. &lt;br /&gt;
&lt;br /&gt;
:*Research could be summarised and papers talked about rather than just listing papers of current research. &lt;br /&gt;
&lt;br /&gt;
:*Glossary is extensive but would be more appropriate following the information on the page rather than after the references as it gets forgotten about. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. Double ups need to be fixed. &lt;br /&gt;
&lt;br /&gt;
Group 9 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit by placing the information into the timeline rather than paragraphs as it is a bit hard to follow. &lt;br /&gt;
&lt;br /&gt;
:*In the diagnosis section each of the hallmark symptoms could be further explained rather than just listed. &lt;br /&gt;
&lt;br /&gt;
:*The management steps could be explained rather than just listed. Not enough information in this section. Treatment is very choppy, should be written in paragraphs not sentences. &lt;br /&gt;
&lt;br /&gt;
:*Research could be summarised and papers talked about rather than just listing papers of current research or individuals that are researchers. &lt;br /&gt;
&lt;br /&gt;
:*Glossary needs to be finished. If you didn’t have time, should have gotten rid of terms. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. Several different styles of referencing used, just have one. &lt;br /&gt;
&lt;br /&gt;
Group 10 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit by placing the information into a timeline rather than paragraphs as it is a bit hard to follow. &lt;br /&gt;
&lt;br /&gt;
:*Epidemiology section could be expanded and written in more flowing way rather than long sentences. &lt;br /&gt;
&lt;br /&gt;
:*Needs more images, lots of large blocks of text. And images need to be formatted into the text as formatting currently looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*Further Research could be added, for example papers or groups that are researching as currently it is just being referred to. &lt;br /&gt;
&lt;br /&gt;
:*Glossary could be expanded. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. Double ups need to be fixed. Also perhaps research from MORE sources is necessary as there is only a few when you cut out the double references. &lt;br /&gt;
&lt;br /&gt;
Group 11 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement&lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit by placing the information into a timeline rather than paragraphs as it is a bit hard to follow. Having both a history section and a timeline section makes no sense. &lt;br /&gt;
&lt;br /&gt;
:*Syndromes and anomalies has sections where “text will be added soon”. Definitely needs more information.Symptoms need to be explained instead of just listed. &lt;br /&gt;
&lt;br /&gt;
:*Needs more images, lots of large blocks of text. And images need to be formatted into the text as formatting currently looks awkward. Text needs to be grammatically corrected and formatted into paragraphs. &lt;br /&gt;
&lt;br /&gt;
:*Further Research could be added, for example papers or groups that are researching as currently it is just being referred to. Listing the name of a paper isn’t discussing it. &lt;br /&gt;
&lt;br /&gt;
:*Glossary could be expanded. &lt;br /&gt;
&lt;br /&gt;
:*Where are the references? Where did you get this information from? Large blocks of text without references. References need to be fixed. There are many that are just a web address. Full citation is needed. Double ups need to be fixed. Links to pubmed could be good. Also perhaps research from MORE sources is necessary as there is only a few when you cut out the double references. &lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 7 ==&lt;br /&gt;
&lt;br /&gt;
1. Are satellite cells (a) necessary for muscle hypertrophy and (b) generally involved in hypertrophy? &lt;br /&gt;
&lt;br /&gt;
a)Satellite cells are not necessary for hypertrophy.&lt;br /&gt;
&lt;br /&gt;
b)They are generally involved in hypertrophy. &lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
2. Why does chronic low frequency stimulation cause a fast to slow fibre type shift? &lt;br /&gt;
&lt;br /&gt;
It causes the fast to slow fibre shift, as the fast fibres become adapt and become more like slow fibres in order to work more efficently with the low frequency stimulation.&lt;br /&gt;
&lt;br /&gt;
Peer Review&lt;br /&gt;
&lt;br /&gt;
*The linking of words to the glossary is good.&lt;br /&gt;
*Some pictures are formatted in a way that the page doesn't flow very well. &lt;br /&gt;
*Formatting is ok. Some areas where there is large empty spaces.&lt;br /&gt;
*Good amount of pictures and text.&lt;br /&gt;
*Informative content.&lt;br /&gt;
--[[User:Z3217043|z3217043]] 10:55, 22 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 6 ==&lt;br /&gt;
&lt;br /&gt;
1. The palatal shelves fuse in week 9.&lt;br /&gt;
&lt;br /&gt;
2. The chicken model was used.&lt;br /&gt;
&lt;br /&gt;
3. The abnormality is Tetralogy of Fallot.&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 5 ==&lt;br /&gt;
&lt;br /&gt;
The most common side is the left side. This is due to the mutation in the pulmonary development gene which causes diaphragmatic hernia. It causes hernia as the left pleural cavity is sealed off at a later stage of development. &lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 4 ==&lt;br /&gt;
&lt;br /&gt;
1. It is continuous with the bladder.&lt;br /&gt;
&lt;br /&gt;
2. Ductus venosus in the liver, Oval foramen between the atria and Ductus arteriosus from the left pulmonary artery to the dorsal aorta (6th arterial arch from the left). &lt;br /&gt;
&lt;br /&gt;
3. I will be doing the history and treatment of thalassemia.&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 10:31, 25 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 3 ==&lt;br /&gt;
&lt;br /&gt;
1. Folic Acid and Iodine&lt;br /&gt;
&lt;br /&gt;
2. [[File:Thalassemia_pic.jpg|200px|thumb|left|Miotic Cell Defects]] --[[User:Z3217043|z3217043]] 11:06, 18 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 2 ==&lt;br /&gt;
&lt;br /&gt;
1. Identify the ZP protein that spermatozoa binds and how is this changed (altered) after fertilisation. &lt;br /&gt;
&lt;br /&gt;
ZP3, it initiates the acrosome reaction, where acrosomal cortical granules are exocytosed from the egg. The granules modify the zona pellucida by making it unable to bind with further sperm and also hardened it.&lt;br /&gt;
&lt;br /&gt;
2. Review articles&lt;br /&gt;
&lt;br /&gt;
[http://www.ncbi.nlm.nih.gov.wwwproxy0.library.unsw.edu.au/pubmed/21806986 A rapid detection for α-thalassemia by PCR combined with dissociation curve analysis]&lt;br /&gt;
&lt;br /&gt;
[http://www.ncbi.nlm.nih.gov.wwwproxy0.library.unsw.edu.au/pubmed/21239835 Hematopoietic stem cell transplantation in thalassemia]&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 20:31, 10 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 1 ==&lt;br /&gt;
&lt;br /&gt;
1. Robert G Edwards&lt;br /&gt;
&lt;br /&gt;
2. B Klln, O Finnstrm, A Lindam, E Nilsson, K-G Nygren, P Otterblad Olausson Trends in delivery and neonatal outcome after in vitro fertilization in Sweden: data for 25 years. Hum. Reprod.: 2010, 25(4);1026-34 PMID:20139431 &lt;br /&gt;
&lt;br /&gt;
Paper discussing the decrease in unwanted outcomes in IVF in Sweden.&lt;br /&gt;
&lt;br /&gt;
3. Congenital Dislocated Hip and Cleft Palate&lt;br /&gt;
&lt;br /&gt;
--z3217043 20:58, 3 August 2011 (EST)&lt;/div&gt;</summary>
		<author><name>Z3217043</name></author>
	</entry>
	<entry>
		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=User:Z3217043&amp;diff=78777</id>
		<title>User:Z3217043</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=User:Z3217043&amp;diff=78777"/>
		<updated>2011-10-20T00:35:33Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: &lt;/p&gt;
&lt;hr /&gt;
&lt;div&gt;{{2011Student}}&lt;br /&gt;
&lt;br /&gt;
== LAB ATTENDANCE ==&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:35, 20 October 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:20, 6 October 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:21, 29 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 10:59, 15 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:09, 1 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:09, 25 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:07, 18 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:40, 11 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:11, 4 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|Z3217043]] 12:55, 28 July 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 11 ==&lt;br /&gt;
&lt;br /&gt;
1.Name the components that give rise to the interatrial septum and the passages that connect the right and left atria. &lt;br /&gt;
&lt;br /&gt;
Septum Primum and Septum Secundum form the interatrial septum. Foramen Ovale and Foramen Secundum form the passages between the right and left atria.&lt;br /&gt;
&lt;br /&gt;
2.Identify the cardiac defects that arise through abnormal development of the outflow tract &lt;br /&gt;
&lt;br /&gt;
Truncus Arteriosus and Ventricular Septal defects.&lt;br /&gt;
&lt;br /&gt;
== Group Project Contribution ==&lt;br /&gt;
&lt;br /&gt;
I contributed to the Treatment and Introduction sections. I edited all my work in Word before I added it to the group page to avoid leaving the editing sections open for too long.&lt;br /&gt;
&lt;br /&gt;
I also formatted all of the references so there was no double ups and editted the website for grammer and sentence structure. This is as of the 13/10/2011. &lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 10 ==&lt;br /&gt;
&lt;br /&gt;
1.Besides fetal alcohol syndrome, identify another environmental teratogen that can lead to hearing loss. &lt;br /&gt;
&lt;br /&gt;
Maternal Diabetes&lt;br /&gt;
&lt;br /&gt;
2.Identify 3 factors that contribute to poor neonatal drainage of the middle ear. &lt;br /&gt;
&lt;br /&gt;
Opened by only the tensor palatini muscle, narrow and almost horizontal. &lt;br /&gt;
&lt;br /&gt;
3.Identify 1 genetic abnormality that affects hearing development and link to the OMIM record. (Your individual abnormality should be different from all other students)&lt;br /&gt;
&lt;br /&gt;
FIBROBLAST GROWTH FACTOR 3; FGF3 [http://www.omim.org/entry/164950]&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 8 ==&lt;br /&gt;
&lt;br /&gt;
Group 2 Peer Review&lt;br /&gt;
&lt;br /&gt;
:*The first three sentences about congenital disease is misplaced. This should be in your glossary, not in your very first sentences. &lt;br /&gt;
&lt;br /&gt;
:*The common symptoms could be left out of the introduction and discussed in the appropriate section. &lt;br /&gt;
&lt;br /&gt;
:*Written like an essay rather than a webpage. Language such as “for example” not necessary. &lt;br /&gt;
&lt;br /&gt;
:*Clinical Diagnosis was well structured and good use of pictures. &lt;br /&gt;
&lt;br /&gt;
:*Clinical Manifestations could be simplified slightly in the table. &lt;br /&gt;
&lt;br /&gt;
:*Some references need to be adjusted rather than just a web address.&lt;br /&gt;
&lt;br /&gt;
Group 3 Peer Review&lt;br /&gt;
&lt;br /&gt;
:*The first paragraph is not necessary, talk about Klinefelter’s specifically not about sex chromosomes. This can be discussed further in the webpage. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs and other formatting looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*Great historic information but could be integrated into the timeline instead of having large paragraphs and a timeline. &lt;br /&gt;
&lt;br /&gt;
:*Really liked “other similar disorders”. Great idea. &lt;br /&gt;
&lt;br /&gt;
:*Some references need to be fixed so there is not double ups in the reference list.&lt;br /&gt;
&lt;br /&gt;
Group 4 Peer Review&lt;br /&gt;
&lt;br /&gt;
:* History could be adapted into the timeline. Unnecessary for both.&lt;br /&gt;
&lt;br /&gt;
:*The table of medications in treatments is slightly hard to follow. Perhaps some use of bolding or different font sizes would make it easier to read. &lt;br /&gt;
&lt;br /&gt;
:* Great use of images. Make sure they are formatted correctly. In the Tetrabenezine section the image is large and cuts off one sentence which is then placed under the image which makes it look like a caption.&lt;br /&gt;
&lt;br /&gt;
:* Some references are missing entirely. Make sure the referencing is uniform. Review list and fix up double references. &lt;br /&gt;
&lt;br /&gt;
Group 5 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*The lone sentence at the beginning of the history is unnecessary. &lt;br /&gt;
&lt;br /&gt;
:*Essay language such as “for example” is a bit out of place on a wiki page. Tailor language to a web page. &lt;br /&gt;
&lt;br /&gt;
:*In the epidemiology section some statements are not referenced. Where are these ‘examples’ coming from? &lt;br /&gt;
&lt;br /&gt;
:*Research section would benefit from the bolding of paper headings or authors names. &lt;br /&gt;
&lt;br /&gt;
:*Glossary could be expanded, very minimal. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. &lt;br /&gt;
&lt;br /&gt;
Group 6 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*Introduction does not flow very well. Sentences are very choppy. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit from a timeline rather than paragraphs as it is a bit hard to follow. &lt;br /&gt;
&lt;br /&gt;
:*In the epidemiology and symptoms sections need some more content. Seems very minimal. Also images? &lt;br /&gt;
&lt;br /&gt;
:*Diagnostic section needs the rest of the information added to its table. “Insert text here”. Also use of bolding or different font sizes would benefit this table. &lt;br /&gt;
&lt;br /&gt;
:*Glossary could be expanded, very minimal. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. &lt;br /&gt;
&lt;br /&gt;
Group 7 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit by placing the information into the timeline rather than paragraphs as it is a bit hard to follow. &lt;br /&gt;
&lt;br /&gt;
:*In the epidemiology, aetiology and complications sections need some more content. Seems very minimal. The table in aetiology could be explained much better. &lt;br /&gt;
&lt;br /&gt;
:*Seems to be too many sections with only a small amount of content. These could be merged as some headings fit under a broader heading. This would make the page seem more content filled and give it a better flow. &lt;br /&gt;
&lt;br /&gt;
:*Glossary could be expanded. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. Double ups need to be fixed. &lt;br /&gt;
&lt;br /&gt;
Group 8 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit by placing the information into the timeline rather than paragraphs as it is a bit hard to follow. Could also be expanded. &lt;br /&gt;
&lt;br /&gt;
:*In the epidemiology section the subheadings do not present the information in the best way possible. It makes it look like there is a lack of research into this area. Perhaps combining into paragraphs, or adding more information to each subheading. &lt;br /&gt;
&lt;br /&gt;
:*The pathogenesis section needs some additional information. &lt;br /&gt;
&lt;br /&gt;
:*Further explanation of terms in the symptoms section is needed as the web page is aimed at those that may not have a clinical knowledge. &lt;br /&gt;
&lt;br /&gt;
:*Research could be summarised and papers talked about rather than just listing papers of current research. &lt;br /&gt;
&lt;br /&gt;
:*Glossary is extensive but would be more appropriate following the information on the page rather than after the references as it gets forgotten about. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. Double ups need to be fixed. &lt;br /&gt;
&lt;br /&gt;
Group 9 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit by placing the information into the timeline rather than paragraphs as it is a bit hard to follow. &lt;br /&gt;
&lt;br /&gt;
:*In the diagnosis section each of the hallmark symptoms could be further explained rather than just listed. &lt;br /&gt;
&lt;br /&gt;
:*The management steps could be explained rather than just listed. Not enough information in this section. Treatment is very choppy, should be written in paragraphs not sentences. &lt;br /&gt;
&lt;br /&gt;
:*Research could be summarised and papers talked about rather than just listing papers of current research or individuals that are researchers. &lt;br /&gt;
&lt;br /&gt;
:*Glossary needs to be finished. If you didn’t have time, should have gotten rid of terms. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. Several different styles of referencing used, just have one. &lt;br /&gt;
&lt;br /&gt;
Group 10 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit by placing the information into a timeline rather than paragraphs as it is a bit hard to follow. &lt;br /&gt;
&lt;br /&gt;
:*Epidemiology section could be expanded and written in more flowing way rather than long sentences. &lt;br /&gt;
&lt;br /&gt;
:*Needs more images, lots of large blocks of text. And images need to be formatted into the text as formatting currently looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*Further Research could be added, for example papers or groups that are researching as currently it is just being referred to. &lt;br /&gt;
&lt;br /&gt;
:*Glossary could be expanded. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. Double ups need to be fixed. Also perhaps research from MORE sources is necessary as there is only a few when you cut out the double references. &lt;br /&gt;
&lt;br /&gt;
Group 11 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement&lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit by placing the information into a timeline rather than paragraphs as it is a bit hard to follow. Having both a history section and a timeline section makes no sense. &lt;br /&gt;
&lt;br /&gt;
:*Syndromes and anomalies has sections where “text will be added soon”. Definitely needs more information.Symptoms need to be explained instead of just listed. &lt;br /&gt;
&lt;br /&gt;
:*Needs more images, lots of large blocks of text. And images need to be formatted into the text as formatting currently looks awkward. Text needs to be grammatically corrected and formatted into paragraphs. &lt;br /&gt;
&lt;br /&gt;
:*Further Research could be added, for example papers or groups that are researching as currently it is just being referred to. Listing the name of a paper isn’t discussing it. &lt;br /&gt;
&lt;br /&gt;
:*Glossary could be expanded. &lt;br /&gt;
&lt;br /&gt;
:*Where are the references? Where did you get this information from? Large blocks of text without references. References need to be fixed. There are many that are just a web address. Full citation is needed. Double ups need to be fixed. Links to pubmed could be good. Also perhaps research from MORE sources is necessary as there is only a few when you cut out the double references. &lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 7 ==&lt;br /&gt;
&lt;br /&gt;
1. Are satellite cells (a) necessary for muscle hypertrophy and (b) generally involved in hypertrophy? &lt;br /&gt;
&lt;br /&gt;
a)Satellite cells are not necessary for hypertrophy.&lt;br /&gt;
&lt;br /&gt;
b)They are generally involved in hypertrophy. &lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
2. Why does chronic low frequency stimulation cause a fast to slow fibre type shift? &lt;br /&gt;
&lt;br /&gt;
It causes the fast to slow fibre shift, as the fast fibres become adapt and become more like slow fibres in order to work more efficently with the low frequency stimulation.&lt;br /&gt;
&lt;br /&gt;
Peer Review&lt;br /&gt;
&lt;br /&gt;
*The linking of words to the glossary is good.&lt;br /&gt;
*Some pictures are formatted in a way that the page doesn't flow very well. &lt;br /&gt;
*Formatting is ok. Some areas where there is large empty spaces.&lt;br /&gt;
*Good amount of pictures and text.&lt;br /&gt;
*Informative content.&lt;br /&gt;
--[[User:Z3217043|z3217043]] 10:55, 22 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 6 ==&lt;br /&gt;
&lt;br /&gt;
1. The palatal shelves fuse in week 9.&lt;br /&gt;
&lt;br /&gt;
2. The chicken model was used.&lt;br /&gt;
&lt;br /&gt;
3. The abnormality is Tetralogy of Fallot.&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 5 ==&lt;br /&gt;
&lt;br /&gt;
The most common side is the left side. This is due to the mutation in the pulmonary development gene which causes diaphragmatic hernia. It causes hernia as the left pleural cavity is sealed off at a later stage of development. &lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 4 ==&lt;br /&gt;
&lt;br /&gt;
1. It is continuous with the bladder.&lt;br /&gt;
&lt;br /&gt;
2. Ductus venosus in the liver, Oval foramen between the atria and Ductus arteriosus from the left pulmonary artery to the dorsal aorta (6th arterial arch from the left). &lt;br /&gt;
&lt;br /&gt;
3. I will be doing the history and treatment of thalassemia.&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 10:31, 25 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 3 ==&lt;br /&gt;
&lt;br /&gt;
1. Folic Acid and Iodine&lt;br /&gt;
&lt;br /&gt;
2. [[File:Thalassemia_pic.jpg|200px|thumb|left|Miotic Cell Defects]] --[[User:Z3217043|z3217043]] 11:06, 18 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 2 ==&lt;br /&gt;
&lt;br /&gt;
1. Identify the ZP protein that spermatozoa binds and how is this changed (altered) after fertilisation. &lt;br /&gt;
&lt;br /&gt;
ZP3, it initiates the acrosome reaction, where acrosomal cortical granules are exocytosed from the egg. The granules modify the zona pellucida by making it unable to bind with further sperm and also hardened it.&lt;br /&gt;
&lt;br /&gt;
2. Review articles&lt;br /&gt;
&lt;br /&gt;
[http://www.ncbi.nlm.nih.gov.wwwproxy0.library.unsw.edu.au/pubmed/21806986 A rapid detection for α-thalassemia by PCR combined with dissociation curve analysis]&lt;br /&gt;
&lt;br /&gt;
[http://www.ncbi.nlm.nih.gov.wwwproxy0.library.unsw.edu.au/pubmed/21239835 Hematopoietic stem cell transplantation in thalassemia]&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 20:31, 10 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 1 ==&lt;br /&gt;
&lt;br /&gt;
1. Robert G Edwards&lt;br /&gt;
&lt;br /&gt;
2. B Klln, O Finnstrm, A Lindam, E Nilsson, K-G Nygren, P Otterblad Olausson Trends in delivery and neonatal outcome after in vitro fertilization in Sweden: data for 25 years. Hum. Reprod.: 2010, 25(4);1026-34 PMID:20139431 &lt;br /&gt;
&lt;br /&gt;
Paper discussing the decrease in unwanted outcomes in IVF in Sweden.&lt;br /&gt;
&lt;br /&gt;
3. Congenital Dislocated Hip and Cleft Palate&lt;br /&gt;
&lt;br /&gt;
--z3217043 20:58, 3 August 2011 (EST)&lt;/div&gt;</summary>
		<author><name>Z3217043</name></author>
	</entry>
	<entry>
		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=User:Z3217043&amp;diff=78697</id>
		<title>User:Z3217043</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=User:Z3217043&amp;diff=78697"/>
		<updated>2011-10-19T22:05:13Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: &lt;/p&gt;
&lt;hr /&gt;
&lt;div&gt;{{2011Student}}&lt;br /&gt;
&lt;br /&gt;
== LAB ATTENDANCE ==&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:20, 6 October 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:21, 29 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 10:59, 15 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:09, 1 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:09, 25 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:07, 18 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:40, 11 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:11, 4 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|Z3217043]] 12:55, 28 July 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 11 ==&lt;br /&gt;
&lt;br /&gt;
1.Name the components that give rise to the interatrial septum and the passages that connect the right and left atria. &lt;br /&gt;
&lt;br /&gt;
Septum Primum and Septum Secundum form the interatrial septum. Foramen Ovale and Foramen Secundum form the passages between the right and left atria.&lt;br /&gt;
&lt;br /&gt;
2.Identify the cardiac defects that arise through abnormal development of the outflow tract &lt;br /&gt;
&lt;br /&gt;
Truncus Arteriosus and Ventricular Septal defects.&lt;br /&gt;
&lt;br /&gt;
== Group Project Contribution ==&lt;br /&gt;
&lt;br /&gt;
I contributed to the Treatment and Introduction sections. I edited all my work in Word before I added it to the group page to avoid leaving the editing sections open for too long.&lt;br /&gt;
&lt;br /&gt;
I also formatted all of the references so there was no double ups and editted the website for grammer and sentence structure. This is as of the 13/10/2011. &lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 10 ==&lt;br /&gt;
&lt;br /&gt;
1.Besides fetal alcohol syndrome, identify another environmental teratogen that can lead to hearing loss. &lt;br /&gt;
&lt;br /&gt;
Maternal Diabetes&lt;br /&gt;
&lt;br /&gt;
2.Identify 3 factors that contribute to poor neonatal drainage of the middle ear. &lt;br /&gt;
&lt;br /&gt;
Opened by only the tensor palatini muscle, narrow and almost horizontal. &lt;br /&gt;
&lt;br /&gt;
3.Identify 1 genetic abnormality that affects hearing development and link to the OMIM record. (Your individual abnormality should be different from all other students)&lt;br /&gt;
&lt;br /&gt;
FIBROBLAST GROWTH FACTOR 3; FGF3 [http://www.omim.org/entry/164950]&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 8 ==&lt;br /&gt;
&lt;br /&gt;
Group 2 Peer Review&lt;br /&gt;
&lt;br /&gt;
:*The first three sentences about congenital disease is misplaced. This should be in your glossary, not in your very first sentences. &lt;br /&gt;
&lt;br /&gt;
:*The common symptoms could be left out of the introduction and discussed in the appropriate section. &lt;br /&gt;
&lt;br /&gt;
:*Written like an essay rather than a webpage. Language such as “for example” not necessary. &lt;br /&gt;
&lt;br /&gt;
:*Clinical Diagnosis was well structured and good use of pictures. &lt;br /&gt;
&lt;br /&gt;
:*Clinical Manifestations could be simplified slightly in the table. &lt;br /&gt;
&lt;br /&gt;
:*Some references need to be adjusted rather than just a web address.&lt;br /&gt;
&lt;br /&gt;
Group 3 Peer Review&lt;br /&gt;
&lt;br /&gt;
:*The first paragraph is not necessary, talk about Klinefelter’s specifically not about sex chromosomes. This can be discussed further in the webpage. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs and other formatting looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*Great historic information but could be integrated into the timeline instead of having large paragraphs and a timeline. &lt;br /&gt;
&lt;br /&gt;
:*Really liked “other similar disorders”. Great idea. &lt;br /&gt;
&lt;br /&gt;
:*Some references need to be fixed so there is not double ups in the reference list.&lt;br /&gt;
&lt;br /&gt;
Group 4 Peer Review&lt;br /&gt;
&lt;br /&gt;
:* History could be adapted into the timeline. Unnecessary for both.&lt;br /&gt;
&lt;br /&gt;
:*The table of medications in treatments is slightly hard to follow. Perhaps some use of bolding or different font sizes would make it easier to read. &lt;br /&gt;
&lt;br /&gt;
:* Great use of images. Make sure they are formatted correctly. In the Tetrabenezine section the image is large and cuts off one sentence which is then placed under the image which makes it look like a caption.&lt;br /&gt;
&lt;br /&gt;
:* Some references are missing entirely. Make sure the referencing is uniform. Review list and fix up double references. &lt;br /&gt;
&lt;br /&gt;
Group 5 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*The lone sentence at the beginning of the history is unnecessary. &lt;br /&gt;
&lt;br /&gt;
:*Essay language such as “for example” is a bit out of place on a wiki page. Tailor language to a web page. &lt;br /&gt;
&lt;br /&gt;
:*In the epidemiology section some statements are not referenced. Where are these ‘examples’ coming from? &lt;br /&gt;
&lt;br /&gt;
:*Research section would benefit from the bolding of paper headings or authors names. &lt;br /&gt;
&lt;br /&gt;
:*Glossary could be expanded, very minimal. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. &lt;br /&gt;
&lt;br /&gt;
Group 6 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*Introduction does not flow very well. Sentences are very choppy. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit from a timeline rather than paragraphs as it is a bit hard to follow. &lt;br /&gt;
&lt;br /&gt;
:*In the epidemiology and symptoms sections need some more content. Seems very minimal. Also images? &lt;br /&gt;
&lt;br /&gt;
:*Diagnostic section needs the rest of the information added to its table. “Insert text here”. Also use of bolding or different font sizes would benefit this table. &lt;br /&gt;
&lt;br /&gt;
:*Glossary could be expanded, very minimal. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. &lt;br /&gt;
&lt;br /&gt;
Group 7 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit by placing the information into the timeline rather than paragraphs as it is a bit hard to follow. &lt;br /&gt;
&lt;br /&gt;
:*In the epidemiology, aetiology and complications sections need some more content. Seems very minimal. The table in aetiology could be explained much better. &lt;br /&gt;
&lt;br /&gt;
:*Seems to be too many sections with only a small amount of content. These could be merged as some headings fit under a broader heading. This would make the page seem more content filled and give it a better flow. &lt;br /&gt;
&lt;br /&gt;
:*Glossary could be expanded. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. Double ups need to be fixed. &lt;br /&gt;
&lt;br /&gt;
Group 8 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit by placing the information into the timeline rather than paragraphs as it is a bit hard to follow. Could also be expanded. &lt;br /&gt;
&lt;br /&gt;
:*In the epidemiology section the subheadings do not present the information in the best way possible. It makes it look like there is a lack of research into this area. Perhaps combining into paragraphs, or adding more information to each subheading. &lt;br /&gt;
&lt;br /&gt;
:*The pathogenesis section needs some additional information. &lt;br /&gt;
&lt;br /&gt;
:*Further explanation of terms in the symptoms section is needed as the web page is aimed at those that may not have a clinical knowledge. &lt;br /&gt;
&lt;br /&gt;
:*Research could be summarised and papers talked about rather than just listing papers of current research. &lt;br /&gt;
&lt;br /&gt;
:*Glossary is extensive but would be more appropriate following the information on the page rather than after the references as it gets forgotten about. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. Double ups need to be fixed. &lt;br /&gt;
&lt;br /&gt;
Group 9 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit by placing the information into the timeline rather than paragraphs as it is a bit hard to follow. &lt;br /&gt;
&lt;br /&gt;
:*In the diagnosis section each of the hallmark symptoms could be further explained rather than just listed. &lt;br /&gt;
&lt;br /&gt;
:*The management steps could be explained rather than just listed. Not enough information in this section. Treatment is very choppy, should be written in paragraphs not sentences. &lt;br /&gt;
&lt;br /&gt;
:*Research could be summarised and papers talked about rather than just listing papers of current research or individuals that are researchers. &lt;br /&gt;
&lt;br /&gt;
:*Glossary needs to be finished. If you didn’t have time, should have gotten rid of terms. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. Several different styles of referencing used, just have one. &lt;br /&gt;
&lt;br /&gt;
Group 10 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit by placing the information into a timeline rather than paragraphs as it is a bit hard to follow. &lt;br /&gt;
&lt;br /&gt;
:*Epidemiology section could be expanded and written in more flowing way rather than long sentences. &lt;br /&gt;
&lt;br /&gt;
:*Needs more images, lots of large blocks of text. And images need to be formatted into the text as formatting currently looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*Further Research could be added, for example papers or groups that are researching as currently it is just being referred to. &lt;br /&gt;
&lt;br /&gt;
:*Glossary could be expanded. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. Double ups need to be fixed. Also perhaps research from MORE sources is necessary as there is only a few when you cut out the double references. &lt;br /&gt;
&lt;br /&gt;
Group 11 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement&lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit by placing the information into a timeline rather than paragraphs as it is a bit hard to follow. Having both a history section and a timeline section makes no sense. &lt;br /&gt;
&lt;br /&gt;
:*Syndromes and anomalies has sections where “text will be added soon”. Definitely needs more information.Symptoms need to be explained instead of just listed. &lt;br /&gt;
&lt;br /&gt;
:*Needs more images, lots of large blocks of text. And images need to be formatted into the text as formatting currently looks awkward. Text needs to be grammatically corrected and formatted into paragraphs. &lt;br /&gt;
&lt;br /&gt;
:*Further Research could be added, for example papers or groups that are researching as currently it is just being referred to. Listing the name of a paper isn’t discussing it. &lt;br /&gt;
&lt;br /&gt;
:*Glossary could be expanded. &lt;br /&gt;
&lt;br /&gt;
:*Where are the references? Where did you get this information from? Large blocks of text without references. References need to be fixed. There are many that are just a web address. Full citation is needed. Double ups need to be fixed. Links to pubmed could be good. Also perhaps research from MORE sources is necessary as there is only a few when you cut out the double references. &lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 7 ==&lt;br /&gt;
&lt;br /&gt;
1. Are satellite cells (a) necessary for muscle hypertrophy and (b) generally involved in hypertrophy? &lt;br /&gt;
&lt;br /&gt;
a)Satellite cells are not necessary for hypertrophy.&lt;br /&gt;
&lt;br /&gt;
b)They are generally involved in hypertrophy. &lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
2. Why does chronic low frequency stimulation cause a fast to slow fibre type shift? &lt;br /&gt;
&lt;br /&gt;
It causes the fast to slow fibre shift, as the fast fibres become adapt and become more like slow fibres in order to work more efficently with the low frequency stimulation.&lt;br /&gt;
&lt;br /&gt;
Peer Review&lt;br /&gt;
&lt;br /&gt;
*The linking of words to the glossary is good.&lt;br /&gt;
*Some pictures are formatted in a way that the page doesn't flow very well. &lt;br /&gt;
*Formatting is ok. Some areas where there is large empty spaces.&lt;br /&gt;
*Good amount of pictures and text.&lt;br /&gt;
*Informative content.&lt;br /&gt;
--[[User:Z3217043|z3217043]] 10:55, 22 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 6 ==&lt;br /&gt;
&lt;br /&gt;
1. The palatal shelves fuse in week 9.&lt;br /&gt;
&lt;br /&gt;
2. The chicken model was used.&lt;br /&gt;
&lt;br /&gt;
3. The abnormality is Tetralogy of Fallot.&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 5 ==&lt;br /&gt;
&lt;br /&gt;
The most common side is the left side. This is due to the mutation in the pulmonary development gene which causes diaphragmatic hernia. It causes hernia as the left pleural cavity is sealed off at a later stage of development. &lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 4 ==&lt;br /&gt;
&lt;br /&gt;
1. It is continuous with the bladder.&lt;br /&gt;
&lt;br /&gt;
2. Ductus venosus in the liver, Oval foramen between the atria and Ductus arteriosus from the left pulmonary artery to the dorsal aorta (6th arterial arch from the left). &lt;br /&gt;
&lt;br /&gt;
3. I will be doing the history and treatment of thalassemia.&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 10:31, 25 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 3 ==&lt;br /&gt;
&lt;br /&gt;
1. Folic Acid and Iodine&lt;br /&gt;
&lt;br /&gt;
2. [[File:Thalassemia_pic.jpg|200px|thumb|left|Miotic Cell Defects]] --[[User:Z3217043|z3217043]] 11:06, 18 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 2 ==&lt;br /&gt;
&lt;br /&gt;
1. Identify the ZP protein that spermatozoa binds and how is this changed (altered) after fertilisation. &lt;br /&gt;
&lt;br /&gt;
ZP3, it initiates the acrosome reaction, where acrosomal cortical granules are exocytosed from the egg. The granules modify the zona pellucida by making it unable to bind with further sperm and also hardened it.&lt;br /&gt;
&lt;br /&gt;
2. Review articles&lt;br /&gt;
&lt;br /&gt;
[http://www.ncbi.nlm.nih.gov.wwwproxy0.library.unsw.edu.au/pubmed/21806986 A rapid detection for α-thalassemia by PCR combined with dissociation curve analysis]&lt;br /&gt;
&lt;br /&gt;
[http://www.ncbi.nlm.nih.gov.wwwproxy0.library.unsw.edu.au/pubmed/21239835 Hematopoietic stem cell transplantation in thalassemia]&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 20:31, 10 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 1 ==&lt;br /&gt;
&lt;br /&gt;
1. Robert G Edwards&lt;br /&gt;
&lt;br /&gt;
2. B Klln, O Finnstrm, A Lindam, E Nilsson, K-G Nygren, P Otterblad Olausson Trends in delivery and neonatal outcome after in vitro fertilization in Sweden: data for 25 years. Hum. Reprod.: 2010, 25(4);1026-34 PMID:20139431 &lt;br /&gt;
&lt;br /&gt;
Paper discussing the decrease in unwanted outcomes in IVF in Sweden.&lt;br /&gt;
&lt;br /&gt;
3. Congenital Dislocated Hip and Cleft Palate&lt;br /&gt;
&lt;br /&gt;
--z3217043 20:58, 3 August 2011 (EST)&lt;/div&gt;</summary>
		<author><name>Z3217043</name></author>
	</entry>
	<entry>
		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=77750</id>
		<title>2011 Group Project 1</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=77750"/>
		<updated>2011-10-13T00:09:08Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: /* Clinical Manifestations */&lt;/p&gt;
&lt;hr /&gt;
&lt;div&gt;{{2011ProjectsMH}}&lt;br /&gt;
----&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Turner Syndrome ==&lt;br /&gt;
&lt;br /&gt;
== Introduction ==&lt;br /&gt;
&lt;br /&gt;
[[File:Karyotype.jpg|250px|thumb|right|Figure 1: The arrow indicates the presence of only one X chromosome in Karyotype &amp;lt;ref name= &amp;quot;PMID20680156&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;20680156&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.]]&lt;br /&gt;
&lt;br /&gt;
Turner Syndrome (TS), named after Henry Hubert Turner who first described the syndrome in his paper in 1938,&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;4557013&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; is one of the most commonly occuring chromosomal disorders. It is caused by a complete or partial X [[#Glossary19 | '''monosomy''']] in some or all cells and occurs in approximately 1 in 2000 live births in females only. The morbidity rate of spontaneous abortions is 10% and only about 1% of fetuses survive to term. &lt;br /&gt;
&lt;br /&gt;
During normal fetal development, each ovary contain as many as 7 million oocytes. The oocytes gradually reduce to 400,000 during menarche, and during menopause fewer than 10,000 remain. However in TS, the ovaries develop normally during embryogenesis but the absence of the second X chromosome leads to an accelerated loss of oocytes, which is complete by the time the infant reaches 2 years of age. Genetically, menopause occurs before menarche and the ovaries are reduced to atrophic fibrous strands, devoid of ova and follicles (streak ovaries). Development of somatic (nongonadal) tissues that gentically resides on the missing or abnormal X chromosome are also severely affected. For example short stature is caused by a deletion of the Xp chromosome and the deletion of Xq causes gonadal dysfunction &amp;lt;ref&amp;gt;Pathologic Basis of Disease, 8th Ed. V. Kumar, R. Cotran &amp;amp; S Robbins (2007), Saunders &amp;amp; Co.&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The most frequent clinical features of TS are short stature and gonadal dysgenesis. Other features may include [[#Glossary4 | '''coarctation''']] of the aorta, renal anomalies, neck webbing and lymphoedema. People who have TS all vary in their clinical phenotype. In recent years there has been increased interest in TS due to the introduction of growth hormone treatment and there has been marked improvement in the understanding of this condition as advances in molecular genetic techniques occur. However, there is still need for further research as a multidisciplinary approach to treatment is vital in improving the quality of life of girls with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Epidemiology ==&lt;br /&gt;
&lt;br /&gt;
[[File:Stats abnormal.jpg|225px|thumb|left|Figure 2: The arrow indicates the presence of only one X chromosome in the karyotype &amp;lt;ref name= &amp;quot;PMID20680156&amp;quot;/&amp;gt;.]]&lt;br /&gt;
&lt;br /&gt;
TS affects about 1 in 2000 live-born females. There are three types of karyotypic abnormalities but the most frequently observed is the entire X chromosome deletion resulting in 45 X [[#Glossary17 | '''karyotype''']]. The remaining third have structural abnormalities of the X chromosomes and two thirds are mosaics, whereby, the maternal X is retained in two-thirds of women and the paternal X in the remainder.&lt;br /&gt;
&lt;br /&gt;
The phenotype of TS varies but involves anomalies of the sex chromosome. It could be caused by the limited amount of genetic material in these abnormal chromosomes. TS can be transmitted from mother to daughter, and thus could be described as a heredity linked syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The loss of one of the sex chromosomes in TS, occurs after the zygote has formed or just after the fusion of the [[#Glossary10 | '''gametes''']]. In 70-80% of cases the retained X chromosome is inherited from the mother. In such circumstances it has led to the different phenotypic expression of the genes present on the X chromosome depending if inherited from the maternally or paternally. The morphological differences from those retaining the maternal, compared to retaining the paternal X chromosome, have shown to have a greater incidence of cardiovascular anomalies and neck webbing. &lt;br /&gt;
&lt;br /&gt;
The missing sex chromosome could be either an X or a Y. This has clinical implications because if the Y material is present there is a risk of up to 30% of [[#Glossary11 | '''gonadoblastoma''']] developing in the dysgenetic gonads. This is because the 'gonadoblastoma locus' is located on the Y chromosome which is situated just below the centromere.&lt;br /&gt;
The inactivation of the abnormal X chromosomes is another cause that primarily affects hypogonadism phenotypically in females.  &amp;lt;ref&amp;gt;Wade, Nicholas (2009-09-15). '''&amp;quot;New Clues to Sex Anomalies in How Y Chromosomes Are Copied&amp;quot;'''. The New York Times. Retrieved 2010-05-26. http://www.nytimes.com/2009/09/15/science/15chrom.html?pagewanted=1&amp;amp;_r=1&amp;amp;hpw&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Etiology ==&lt;br /&gt;
[[File:nondisjunction.jpg|1000px|thumb|right|alt text|Figure 3: This figure shows the progeny created from normal disjunction (A), and non-disjunction during both Meiosis I (B) and Meiosis II (C).]]&lt;br /&gt;
&lt;br /&gt;
Causation of TS can be traced back to the stages of sex-cell development.  When sex cells divide through a process called [[#Glossary18 | '''meiosis''']] to create gametes, either a [[#Glossary12 | '''haploid''']] egg (for females) or sperm (for males) two divisions occur, Meiosis I and Meiosis II.  Meiosis is the main process which helps create the vast genetic diversity within all populations by allowing [[#Glossary25 | '''recombination''']] and [[#Glossary24 | '''random assortment''']].  During Meiosis I [[#Glossary14 | '''homologous chromosomes''']] are separated; following Meiosis I, [[#Glossary27 | '''sister chromatids''']] separate during Meiosis II.  If during either stage of Meiosis I or II the homologous chromosomes or sister chromatids, respectively, do not fully separate, a phenomenon can occur called [[#Glossary21 | '''nondisjunction''']].  Nondisjunction causes an uneven distribution of genetic material to each daughter nuclei.  When an uneven distribution is such that one of the gametes does not have any of a chromosome, it can combine with another normal gamete to create a fertilized egg with only one chromosome as opposed to the normal two that are found in human cells; this is called a monosomy.  When this occurs in the sex chromosomes leaving only a single X chromosome (X0 genotype) TS is created, leaving only 45 chromosomes in the zygote rather than the normal 46.  &lt;br /&gt;
&lt;br /&gt;
[[File:22+23=45.jpg|400px|thumb|right|Figure 4: 22 chromosomal egg + 23 chromosomal sperm = 45 chromsomes in zygote instead of normal 46.]]&lt;br /&gt;
&lt;br /&gt;
TS can also be created by partial monosomy or disjunctions, meaning that although a whole X chromosome is not missing, portions of it are not present or are non-functional, rendering the chromosome useless.  Any disjunction seems to be completely sporadic and have yet to be attributed to any genetic link. The only thing known for sure is that during conception a portion of or the whole second sex chromosome is not conveyed to the zygote.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;7763055&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; Because at least one X chromosome is necessary for vital functions, this condition can only be found in females.&lt;br /&gt;
&lt;br /&gt;
== Clinical Manifestations ==&lt;br /&gt;
&lt;br /&gt;
The following are a list of characteristics and diseases which tend to accompany, be caused by, or be related to TS.  &lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| &lt;br /&gt;
| '''Clinical Manifestations'''&lt;br /&gt;
| '''Related Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Physical Attributes'''&lt;br /&gt;
|&lt;br /&gt;
*congenital malformations (heart, urinary system, face, neck, ears) &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*gonadal dysgenesis (causes oestrogen deficiencies, which can cause infertility) &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*increased risk of fractures &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16624607&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low cortical bone mineral density (BMD) &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;/&amp;gt;&lt;br /&gt;
*middle ear infections &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*premature ovarian failure &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*short/reduced stature &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*webbed neck &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;17562588&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Webbed Neck.jpg|none|thumb|250px|Figure 5: An example of neck webbing.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Prone to Develop Autoimmune Conditions'''&lt;br /&gt;
|&lt;br /&gt;
*alopecia areata &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coeliac disease (CD) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12466343&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*psoriasis &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;/&amp;gt;&lt;br /&gt;
*thyroiditis &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*type 1 diabetes &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
|[[File:Psoriasis.jpg|none|thumb|250px|Figure 6: An example of a patient with psoriasis on their arm.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Decreased Cognition'''&lt;br /&gt;
|&lt;br /&gt;
*emotion processing difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;20014362&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*increased impulsivity &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;19750135&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low IQ score &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
*nonverbal learning disability (slow math calculations)&amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*social cognition difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*visuoperception/visuoconstruction deficit (identifying and locating is difficult due to poor visual working memory) &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Increased Risk of'''&lt;br /&gt;
|&lt;br /&gt;
*cirrhosis of the liver &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*colon and rectal cancers &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*hypothyroidism &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*inflammatory bowel disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
*morbidity and mortality &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*neurovascular disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*osteoporosis &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*ovarian failure &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*renal and gastrointestinal disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Cardiac Abnormalities''' (most serious/life threatening medical problems created by TS)&lt;br /&gt;
|&lt;br /&gt;
*absence of portal vein &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16612647&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*aortic dilatation and dissection  &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*arrhythmias &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;17015510&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*arteriosclerosis &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*biscuspid aortic valves &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*coarctation of the aorta &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*hypertension &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*ischemic heart disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*prolapsed mitral valve &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
== Diagnostic Procedures ==&lt;br /&gt;
&lt;br /&gt;
===Diagnostic Definition===&lt;br /&gt;
&lt;br /&gt;
[[File:Turner Syndrome X Chromosome Variations.jpg|thumb|right|Figure 7: Variations of the Second X Chromosome in Turner Syndrome]]&lt;br /&gt;
TS is diagnosed through both an evaluation of physical features and by analysis of the second sex chromosome. The two criteria must be met for classification of TS, an abnormality in the second sex chromosome must be found and the abnormality must be found to be expressed somehow in the individual's traits. Hence if physical characteristics are not present even when the cytogenetic criterion is met the patient is not diagnosed as having TS.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; In TS the second sex chromosome is either:&lt;br /&gt;
&lt;br /&gt;
*Completely absent (45,X)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Partially absent&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
*Forms an isochromosome (isoXq), possessing a long arm duplication (q) and being devoid of a short arm (p)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*In a ring formation (rX)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
*Is devoid of the homeobox gene, [[#Glossary26 | '''SHOX''']] (short stature homeobox), the deletion being prior to the junction between Xp22.2 and Xp22.3&amp;lt;ref name=&amp;quot;PMID21325865&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
Any of these variations of the second sex chromosome may occur with or without cell line [[#Glossary20 | '''mosaicism''']].&lt;br /&gt;
TS may be diagnosed prenatally or postnatally, using this genetic diagnostic definition coupled with an appropriate phenotypic evaluation of the individual, as outlined below.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Prenatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
The prenatal diagnostic tool for TS is karyotype screening and testing for phenotype abnormalities. If TS is diagnosed prenatally, karyotype screening and an evaluation of the individual's traits should be conducted again postnatally for confirmation of this diagnosis. TS is frequently diagnosed after karyotype screening during [[#Glossary5 | '''chorionic villous sampling''']] or [[#Glossary2 | '''amniocentesis''']].&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
The table below outlines various prenatal tests conducted and the indications that may be present in babies with TS. Although these techniques and the indications they reveal may highlight TS signs, they should not be used as sole diagnostic tools.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Technique'''&lt;br /&gt;
| '''Turner syndrome indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Ultrasound'''&lt;br /&gt;
|&lt;br /&gt;
*Increased nuchal translucency &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary6 | '''Cystic hygroma''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Coarctation of the aorta &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Left-sided cardiac defects &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary3 | '''Brachycephaly''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Renal anomalies &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary23 | '''Polyhydramnios''']] &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary22 | '''Oligohydramnios''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Growth retardation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;10599686&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Turner Syndrome Test Showing Nuchal Translucency.gif|none|thumb|400px|Figure 8: Ultrasound Test Showing Nuchal Translucency.]]&lt;br /&gt;
[[File:Turner Syndrome Test Showing Cystic Hygroma.gif|none|thumb|400px|Figure 9: Ultrasound Test Showing Cystic Hygroma.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Maternal serum screening'''&lt;br /&gt;
|&lt;br /&gt;
*Abnormal [[#Glossary1 | '''α-fetoprotein''']] levels &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary16 | '''inhibin A''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary13 | '''hCG''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal unconjugated [[#Glossary9 | '''estriol''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
|[[File: TurnerSyndromeMaternalSerumSampling.jpg|none|thumb|400px|Figure 10: Maternal Serum Sampling.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
===Postnatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
In postnatal diagnosis, karyotype investigation is undertaken for the individual. When a female presents with the following clinical findings, explained in table below, it is recommended that chromosomal analysis is undertaken, so that TS may be eliminated&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;:&lt;br /&gt;
{|sstyle= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Age'''&lt;br /&gt;
| '''Phenotypic manifestations/indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Baby/infant'''&lt;br /&gt;
|&lt;br /&gt;
*Oedema of the hands or feet &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Nuchal folds &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Cardiac abnormalities for example aortic dilation, bicuspid aortic valve and aortic coarctation &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Low hairline &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Low set ears &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Small mandible &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Gonadal dysgenesis &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
|&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Child'''&lt;br /&gt;
| &lt;br /&gt;
*Short stature with low growth velocity &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Turned in elbows &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Nail [[#Glossary15 | '''hypoplasia''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Hyperconvex uplifted nails &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Multiple pigmented benign birthmarks/moles &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Characteristic faecies &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Short fourth metacarpal &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*High arched palate &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Extensive and chronic inflammation/infection of the ear &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Hearing loss &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 4 year old child.jpg|left|thumb|150px|Figure 11: Four-year-old girl with Turner syndrome. Note somewhat broad chest, prominent ears and ptosis, but otherwise normal proportion. There is no pronounced neck webbing or edema.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Adolescent/Adult'''&lt;br /&gt;
|&lt;br /&gt;
*Absence of breast development by 13 yr of age &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Pubertal arrest &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Primary or secondary amenorrhoea&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Unexplained short stature &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Renal abnormalities &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Immune disorders &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 35 year old woman.jpg|none|thumb|150px|Figure 12: A Thirty-five-year-old woman with Turner syndrome. Note increased carrying angle of arms, broad flat chest and sexual infantilism, but the lack of pronounced neck webbing or peripheral edema.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
Since an absence of the physical signs of puberty and/or growth failure are often seen as normal variations in the population, these possible indications/symptoms of TS may not be further investigated by many clinicians.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20361125&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; When karyotyping in order to exclude natural cell variation, a sufficient number of cells should be assessed. Whilst a sample of blood will often reveal TS, an evaluation of a second tissue sample like the skin is recommend.&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
[[#Glossary7 | '''DNA hybridisation''']] or fluorescent in situ hybridisation should be conducted using a Y centromeric or short arm probe to detect for any additional Y or X chromosomal material.&lt;br /&gt;
If there is any of the Y chromosome present, this may initiate gonadoblastoma development, another primary indicator of TS. Hence the individual should have both a vaginal [[#Glossary28 | '''ultrasonograph''']] and colour [[#Glossary8 | '''Doppler sonograph''']] of their gonads to detect whether any Y chromosome fragments are present. These tests should be repeated regularly to monitor the patient for any malignancy, if a gonadectomy is not undertaken.&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== Treatment ==&lt;br /&gt;
&lt;br /&gt;
=== Cardiac Treatment ===&lt;br /&gt;
&lt;br /&gt;
When patients are confirmed with TS, it is necessary to have a full cardiac evaulation including a physical exam and a echocardiogram. If cardiac abnormalities are found, monitoring by a cardiologist is recommended including regular blood pressure checks &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.   If no abnormalities are found, blood pressure in TS patients is still routinely checked and a follow up cardiac evaulation is recommended for girls around the age of puberty (12-15) &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. Coarctation of the aorta and hypoplastic left heart are quite often very serious issues which present in infancy&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt; which need to be dealt with surgically &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;. Aortic valves which are bicuspid rather than tricuspid are monitored regularly to ensure complications are found before they seriously effect the health of the patient. &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
=== Renal care ===&lt;br /&gt;
&lt;br /&gt;
Renal anomalies such as posteriorly rotated or horseshoe kidneys are assessed via an ultrasound to determine if any further treatment such as surgery or drug treatment is needed. This renal ultrasound is repeated again at the time the patient is handed over from the pediatic doctor to the adult specialist. &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
=== Liver function ===&lt;br /&gt;
&lt;br /&gt;
As abnormal liver function is highly prevelant in the TS community, liver function tests are performed when regular blood tests are performed. This is particularlly important test at the begining of puberty and when patients are transfered from their pediatrican to adult specialist to pick up any changes in liver enzymes, as raised levels may indicate the onset of cirrhosis of the liver&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
=== Speech and Feeding difficulties ===&lt;br /&gt;
Many TS patients have trouble with their speech. It is necessary for them to be refered to an Ear, Nose and Throat (ENT) specialist and to a speech therapist to work on improve any speech problems &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  TS infants also often suffer from feeding difficulties due to dysfunctional tongue movemnts, poor chewing skills and a highly arched palate. The ENT specialist and speech therapist may be able to help with improving chewing skills and settling down any difficulties &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Management of Puberty and Growth ===&lt;br /&gt;
&lt;br /&gt;
The main treatment for growth and pubertal development is Hormone Replacement Therapy. Growth Hormone is administered to girls with abnormal growth, resulting in postive growth that is consistent with the expected height of the patient. It is administered as early as 2 years of age, but more often in the age group of 9-12 which is in line with the growth spurt that occurs during puberty &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  &lt;br /&gt;
&lt;br /&gt;
Natural oestrogen and progesterone are administered to girls when they reach the age of puberty in early adolescence. The age at which this treatment commences varies between individuals, as does the dosage. The administration of oestrogen will begin the process of puberty in girls affected by TS and it is important that this begins around the same time as her peers &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;.The use of oestrogen is often held off if the patient is also undergoing GH treatment so that maximum growth can be achieved, as oestrogen will induce the fusion of the epiphyses and limit longitudinal bone growth &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  Around 10% of nonmosaic and 20% of mosaic women with TS will have spontaneous menses (periods) and may not need to undergo Hormone Replacement to initiate puberty. Around 2-5% of these women will have the potential to fall pregnant naturally &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
=== Appearance === &lt;br /&gt;
&lt;br /&gt;
Extreme neck webbing maybe worrying or uncomfortable to women with TS and in some cases plastic surgery such as Z-Plasty is undertaken to fix this problem. Surgery can however, leave scars which may further trouble patients and often advice is given to wear their hair long&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Foot problems are common in young girls with TS with short broad feet making it hard to buy and wear convential shoes&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;.Also if convex growth of toenails occurs, surgery is conducted so that the woman can wear normal shoes &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;. Referal to a podiatrist is necessary for correct up to date advice on foot care and for shoe fittings&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Ongoing Adult Treatment ===&lt;br /&gt;
&lt;br /&gt;
Closely monitoring the health of TS adults is vital in the reduction of morbidity and mortality. An annual physical evalution should be undertaken which includes, blood pressure, heart auscultation, thyroid function, breast exam, and pap smear&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. Particular attention needs to be taken in the area of weight and obesity in TS women due to their high risk of developing diabetes, osteoporosis and hypertension. Patients are to be encouraged to have a healthy lifestyle including healthy eating and exercise&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. Many TS women will need to undergo fertility treatment and in many cases need the assistance of an egg donation to fall pregnant. Counselling throughout this process is recommended as is the referal to a reproductive specialist with the patient feels ready to start a family &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Research ==&lt;br /&gt;
&lt;br /&gt;
===Current research===&lt;br /&gt;
&lt;br /&gt;
Since there is no preventative or cure, currently mainly research is being conducted into the areas of symptoms, possible treatments and risks involved with TS.&lt;br /&gt;
&lt;br /&gt;
'''Growth hormone therapy in Turner syndrome: its affect on height, weight and stature.'''&lt;br /&gt;
*'''Growth hormone effect on body composition in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21720878&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research findings from this paper conclude that people with TS have lower height, higher BMI and higher proportional sitting height and leg length than that of the normal population, no matter whether they undergo hormone replacement therapy or not.&lt;br /&gt;
*'''Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21619701&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study has concluded that all adults with TS had a similar quality of life regardless of whether they have a higher stature due to undergoing growth hormone replacement therapy or not. It was hypothesised that height differences did not affect quality of life as the individuals seemed to adapt to their own life challenges.&lt;br /&gt;
*'''Growth hormone treatment for Turner syndrome in Australia reveals that younger age and increased dose interact to improve response.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21375553&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research from this study found that growth hormone therapy works most optimally if given earlier in life and at a high dose in the first year of treatment.&lt;br /&gt;
*'''Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21398400&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: Another study which confers that the early introduction of growth hormone therapy is most efficacious. However the individual's glucose metabolism should be monitored as the hormones may affect glucose tolerance transiently.&lt;br /&gt;
&lt;br /&gt;
'''Oestrogen hormone replacement therapy in Turner syndrome: the adequate dosage and its effect on uterine development, breast development, bone mineral density and sexual characteristics.'''&lt;br /&gt;
*'''Growth hormone plus childhood low-dose oestrogen in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21449786&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study indicates that undergoing both growth hormone and oestrogen therapy together may help increase the efficacy of each (increasing growth in height and pubertal development) more than when they act alone. &lt;br /&gt;
*'''Oestrogen requirements in girls with Turner syndrome; how low is enough for initiating puberty and uterine development?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21793702&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study assessed the minimal dosage of oestrogen that is required to bring about desired pubertal development in girls with TS.&lt;br /&gt;
*'''Puberty induction in Turner syndrome: results of oestrogen treatment on development of secondary sexual characteristics, uterine dimensions and serum hormone levels.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19200215&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: It was found that uterus of women with TS who had undergone oestrogen was underdeveloped, however the exact cause of this needs to be further researched.&lt;br /&gt;
&lt;br /&gt;
'''Pregnancy and Turner syndrome: evaluation and treatment of risks involved with pregnancy for: the mothers of Turner syndrome babies, for individuals with Turner syndrome and for the babies of individuals with Turner syndrome.'''&lt;br /&gt;
*'''Familial occurrence of Turner syndrome: casual event or increased risk?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21648298&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research examined whether there is a higher probability of having a second child with Turner syndrome and concluded that there is evidence in the small cohort that they used of a greater probability. It is suggested that a larger study be conducted to look further into these findings.that &lt;br /&gt;
*'''Obstetric Outcomes in Women with Turner Karyotype.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21865365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: In this study it was found that women with TS had shorter pregnancies than that of a control group, but no other marked difference was observed between the groups.&lt;br /&gt;
*'''Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21496813&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This paper examined a number of pregnant women with TS, some who incidentally went through puberty even though they had no hormone replacement therapy and another group that had undertaken hormone replacement therapy. Though there were not many complications in either group, the groups were small in number and one mother did have cardiovascular difficulties later on in life. Hence a thorough examination of pregnant TS women should be conducted prior to conception.&lt;br /&gt;
*'''Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20923275&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This article assessed the prognosis of pregnant women with TS. They concluded that spontaneous pregnancy increases the risk of the baby having phenotypic and chromosomal abnormalities compared with women having assisted reproductive therapies.&lt;br /&gt;
&lt;br /&gt;
===Future research=== &lt;br /&gt;
&lt;br /&gt;
Future research needs to be conducted in the following areas: to follow up on the suggestions given in the conclusions of current research papers as outlined in the prior section and also into how the care system is functioning for TS individuals as outlined below.&lt;br /&gt;
&lt;br /&gt;
*'''Medical Care of Girls with Turner Syndrome: Where are we Lacking?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21454226&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research found that a large proportion (&amp;gt;50%) of people with TS are not given adequate information upon diagnosis or screenings for complications and symptoms. Therefore it is suggested in order to rectify this issue that more education should be given to physicians on the syndrome&lt;br /&gt;
*'''Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21752892&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; and '''Turner's syndrome requires multidisciplinary approach.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19514616&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: These article evaluate the need for a multidisciplinary approach to treatment of TS. Since the symptoms can be wide ranging and severe, it is difficult but necessary for all of them to be examined in each individual. Hence a greater care plan for individuals should be implemented upon diagnosis.&lt;br /&gt;
&lt;br /&gt;
== Related Pages ==&lt;br /&gt;
&lt;br /&gt;
*[[Genital System - Abnormalities]] : Other genital abnormalities are described here, which may assist in a differential diagnosis of TS.&lt;br /&gt;
&lt;br /&gt;
*[[X Chromosome]] : A more in depth description of the structure and role of the X chromosome.&lt;br /&gt;
&lt;br /&gt;
*[[Cell Division - Meiosis]] &amp;amp; [[Oocyte Development]]  : Examination of the process of meiosis and the developing oocyte, will assist in the comprehension of why and how there is and abnormality or absence of the X chromosome.&lt;br /&gt;
&lt;br /&gt;
*[[Menstrual Cycle]] : An abnormal menstrual cycle can often be an indicator of TS, hence this information on the normal menstrual pattern is helpful in understanding more about the symptoms and diagnosis of TS.&lt;br /&gt;
&lt;br /&gt;
== Glossary ==&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary1&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Alpha-fetoprotein''' is a protein with an unknown function. It makes up, up to one third of the protein serum levels found in the second trimester of pregnancy and in neural tube defects, these alpha-fetoprotein levels are elevated. &amp;lt;ref name=&amp;quot;McPherson&amp;quot;&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary2&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Amniocentesis''' is a prenatal diagnostic tool. The procedure involves the sampling of amniotic fluid from the amniotic sac using a syringe, that is then tested for a number of abnormalities. &amp;lt;ref name=&amp;quot;Moore&amp;quot;&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary3&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Brachycephaly''' is a condition where the coronal suture of the skull fuses prematurely. Since the skull is unable to expand any further in the anterior-posterior directions due to this closure, it grows to an abnormal size in in the lateral dimension.&amp;lt;ref&amp;gt;Flint, P 2010, ''Flint: Cummings Otolaryngology: Head &amp;amp; Neck Surgery, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-323-05283-2..00186-5--s0045&amp;amp;isbn=978-0-323-05283-2&amp;amp;uniqId=282726024-5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary4&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Coarctation''' of the aorta is an abnormality where the aorta is constricted at one or various sections. This can be caused by genetic and/or environmental factors.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary5&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Chorionic villous sampling''' is a prenatal diagnostic tool which can be used from 7 weeks after fertilisation. It is used to test for a number of chromosomal abnormalities including X-linked and metabolic disorders.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary6&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Cystic hygroma''' is a prenatal abnormality where fluid builds up in the posterior portion of the neck. The body may or may not relieve itself naturally of this accumulation of fluid after birth. &amp;lt;ref&amp;gt;Gabbe, S 2007, ''Gabbe: Obstetrics: Normal and Problem Pregnancies, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-443-06930-7..50011-6--cesec51&amp;amp;isbn=978-0-443-06930-7&amp;amp;uniqId=282726024-10&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary7&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''DNA-DNA hybridisation''' is a technique used to compare the similarities and differences between two sets of genes.&amp;lt;ref&amp;gt;Long, S 2009, ''Bradley: Neurology in Clinical Practice, 5th ed.Long: Principles and Practice of Pediatric Infectious Diseases Revised Reprint, 3rd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X&amp;amp;isbn=978-0-7020-3468-8&amp;amp;uniqId=282726024-19#4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary8&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Doppler sonography''' uses the doppler effect to help image and measure blood flow pattern in the patient.&amp;lt;ref name=&amp;quot;Bradley&amp;quot;&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary9&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Estriol''' is a hormone that is produced in greater amounts during pregnancy especially in the second and third trimester. One of its main functions is to assist with blood flow in the placenta and uterus.&amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary10&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Gametes''' are reproductive (sex) cells (ie: eggs and sperm) that can unite to form a new cell called a zygote. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6&amp;amp;isbn=978-0-443-06811-9&amp;amp;uniqId=283289096-4#4-u1.0-B978-0-443-06811-9..10001-6--b0020&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary11&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Gonadoblastoma''' is an abnormal proliferation of gonadal cells, that may or may not be malignant.&amp;lt;ref name=&amp;quot;Wein&amp;quot;&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary12&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Haploid''' is the status of a cell having only a single set of unpaired chromosomes, or half the number of chromosomes contained in typical body cells. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary13&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''hCG''' is the abbreviation for human chorionic gonadotropin. It is a hormone that functions in the early stage of pregnancy to maintain the blood supply to the corpus luteum.&amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary14&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Homologous chromosomes''' are pairs of chromosomes, one each obtained from maternal and paternal gametes.  46 total chromosome complements are within an organism, 22 pairs of which are homologous chromosomes (called autosomes); the other 2 chromosomes are the sex chromosomes. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary15&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Hypoplasia''' is when an organ or tissue is not completely developed.&amp;lt;ref name=&amp;quot;Wein&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary16&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Inhibin A''' is a peptide produced by the ovaries and acts to restrain the production of follicle-stimulating hormone.&amp;lt;ref&amp;gt;Melmed, S 2011, ''Melmed: Williams Textbook of Endocrinology, 12th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0324-5..00045-6&amp;amp;isbn=978-1-4377-0324-5&amp;amp;uniqId=282726024-25 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary17&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Karyotype''' is an individual's set of chromosomes, both their number and appearance.&amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary18&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Meiosis''' is the specific process of cell division within sex cells which halves the number of chromosomes in the cells through via two cell divisions; this is specific to germ cells only, creating haploid gametes (sex cells) from diploid cells. &amp;lt;ref name=&amp;quot;Moore2&amp;quot;&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary19&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Monosomy''' is a condition wherein a specific chromosome is completely missing within one gamete that combines with a normal gamete to form a zygote; a chromosome has no homologue, or matching chromosome, to pair with. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary20&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Mosaicism''' is when a particular type or all cells of an individual do not have the same genetic makeup. This is caused by a mutation during embryonic cell division.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary21&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Nondisjunction''' is the failure of chromosome pairs to separate entirely during either stage of Meiosis. &amp;lt;ref name=&amp;quot;Moore2&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary22&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Oligohydramnios''' is a prenatal condition, where there is an insufficient amount of amniotic fluid.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary23&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Polyhydramnios''' is a prenatal condition, where there is an excessive amount of amniotic fluid.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary24&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Random assortment''' is the idea first proposed by Gregor Mendel which states that pairs of alleles independently separate during the formation of gametes. &amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;   &lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary25&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Recombination''' is the process which by genetic material is crossed over and switched between two segments of DNA which adds to the genetic diversity of the genome.&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary26&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''SHOX gene''' is the short stature homeobox gene, that when deficient frequently results in short stature.&amp;lt;ref name=&amp;quot;PMID21325865&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary27&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Sister chromatids''' are 2 identical copies of a chromatin that are connected at a position in their center called a centromere. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;     &lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary28&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Ultrasonography''' is a medical technique that employs ultrasound frequencies to visualise a patient's internal bodily structure.&amp;lt;ref name=&amp;quot;Bradley&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== References ==&lt;br /&gt;
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&amp;lt;references/&amp;gt;&lt;br /&gt;
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{{2011Projects}}&lt;/div&gt;</summary>
		<author><name>Z3217043</name></author>
	</entry>
	<entry>
		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=77747</id>
		<title>2011 Group Project 1</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=77747"/>
		<updated>2011-10-13T00:07:17Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: &lt;/p&gt;
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&lt;div&gt;{{2011ProjectsMH}}&lt;br /&gt;
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&lt;br /&gt;
== Turner Syndrome ==&lt;br /&gt;
&lt;br /&gt;
== Introduction ==&lt;br /&gt;
&lt;br /&gt;
[[File:Karyotype.jpg|250px|thumb|right|Figure 1: The arrow indicates the presence of only one X chromosome in Karyotype &amp;lt;ref name= &amp;quot;PMID20680156&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;20680156&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.]]&lt;br /&gt;
&lt;br /&gt;
Turner Syndrome (TS), named after Henry Hubert Turner who first described the syndrome in his paper in 1938,&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;4557013&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; is one of the most commonly occuring chromosomal disorders. It is caused by a complete or partial X [[#Glossary19 | '''monosomy''']] in some or all cells and occurs in approximately 1 in 2000 live births in females only. The morbidity rate of spontaneous abortions is 10% and only about 1% of fetuses survive to term. &lt;br /&gt;
&lt;br /&gt;
During normal fetal development, each ovary contain as many as 7 million oocytes. The oocytes gradually reduce to 400,000 during menarche, and during menopause fewer than 10,000 remain. However in TS, the ovaries develop normally during embryogenesis but the absence of the second X chromosome leads to an accelerated loss of oocytes, which is complete by the time the infant reaches 2 years of age. Genetically, menopause occurs before menarche and the ovaries are reduced to atrophic fibrous strands, devoid of ova and follicles (streak ovaries). Development of somatic (nongonadal) tissues that gentically resides on the missing or abnormal X chromosome are also severely affected. For example short stature is caused by a deletion of the Xp chromosome and the deletion of Xq causes gonadal dysfunction &amp;lt;ref&amp;gt;Pathologic Basis of Disease, 8th Ed. V. Kumar, R. Cotran &amp;amp; S Robbins (2007), Saunders &amp;amp; Co.&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The most frequent clinical features of TS are short stature and gonadal dysgenesis. Other features may include [[#Glossary4 | '''coarctation''']] of the aorta, renal anomalies, neck webbing and lymphoedema. People who have TS all vary in their clinical phenotype. In recent years there has been increased interest in TS due to the introduction of growth hormone treatment and there has been marked improvement in the understanding of this condition as advances in molecular genetic techniques occur. However, there is still need for further research as a multidisciplinary approach to treatment is vital in improving the quality of life of girls with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Epidemiology ==&lt;br /&gt;
&lt;br /&gt;
[[File:Stats abnormal.jpg|225px|thumb|left|Figure 2: The arrow indicates the presence of only one X chromosome in the karyotype &amp;lt;ref name= &amp;quot;PMID20680156&amp;quot;/&amp;gt;.]]&lt;br /&gt;
&lt;br /&gt;
TS affects about 1 in 2000 live-born females. There are three types of karyotypic abnormalities but the most frequently observed is the entire X chromosome deletion resulting in 45 X [[#Glossary17 | '''karyotype''']]. The remaining third have structural abnormalities of the X chromosomes and two thirds are mosaics, whereby, the maternal X is retained in two-thirds of women and the paternal X in the remainder.&lt;br /&gt;
&lt;br /&gt;
The phenotype of TS varies but involves anomalies of the sex chromosome. It could be caused by the limited amount of genetic material in these abnormal chromosomes. TS can be transmitted from mother to daughter, and thus could be described as a heredity linked syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The loss of one of the sex chromosomes in TS, occurs after the zygote has formed or just after the fusion of the [[#Glossary10 | '''gametes''']]. In 70-80% of cases the retained X chromosome is inherited from the mother. In such circumstances it has led to the different phenotypic expression of the genes present on the X chromosome depending if inherited from the maternally or paternally. The morphological differences from those retaining the maternal, compared to retaining the paternal X chromosome, have shown to have a greater incidence of cardiovascular anomalies and neck webbing. &lt;br /&gt;
&lt;br /&gt;
The missing sex chromosome could be either an X or a Y. This has clinical implications because if the Y material is present there is a risk of up to 30% of [[#Glossary11 | '''gonadoblastoma''']] developing in the dysgenetic gonads. This is because the 'gonadoblastoma locus' is located on the Y chromosome which is situated just below the centromere.&lt;br /&gt;
The inactivation of the abnormal X chromosomes is another cause that primarily affects hypogonadism phenotypically in females.  &amp;lt;ref&amp;gt;Wade, Nicholas (2009-09-15). '''&amp;quot;New Clues to Sex Anomalies in How Y Chromosomes Are Copied&amp;quot;'''. The New York Times. Retrieved 2010-05-26. http://www.nytimes.com/2009/09/15/science/15chrom.html?pagewanted=1&amp;amp;_r=1&amp;amp;hpw&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Etiology ==&lt;br /&gt;
[[File:nondisjunction.jpg|1000px|thumb|right|alt text|Figure 3: This figure shows the progeny created from normal disjunction (A), and non-disjunction during both Meiosis I (B) and Meiosis II (C).]]&lt;br /&gt;
&lt;br /&gt;
Causation of TS can be traced back to the stages of sex-cell development.  When sex cells divide through a process called [[#Glossary18 | '''meiosis''']] to create gametes, either a [[#Glossary12 | '''haploid''']] egg (for females) or sperm (for males) two divisions occur, Meiosis I and Meiosis II.  Meiosis is the main process which helps create the vast genetic diversity within all populations by allowing [[#Glossary25 | '''recombination''']] and [[#Glossary24 | '''random assortment''']].  During Meiosis I [[#Glossary14 | '''homologous chromosomes''']] are separated; following Meiosis I, [[#Glossary27 | '''sister chromatids''']] separate during Meiosis II.  If during either stage of Meiosis I or II the homologous chromosomes or sister chromatids, respectively, do not fully separate, a phenomenon can occur called [[#Glossary21 | '''nondisjunction''']].  Nondisjunction causes an uneven distribution of genetic material to each daughter nuclei.  When an uneven distribution is such that one of the gametes does not have any of a chromosome, it can combine with another normal gamete to create a fertilized egg with only one chromosome as opposed to the normal two that are found in human cells; this is called a monosomy.  When this occurs in the sex chromosomes leaving only a single X chromosome (X0 genotype) TS is created, leaving only 45 chromosomes in the zygote rather than the normal 46.  &lt;br /&gt;
&lt;br /&gt;
[[File:22+23=45.jpg|400px|thumb|right|Figure 4: 22 chromosomal egg + 23 chromosomal sperm = 45 chromsomes in zygote instead of normal 46.]]&lt;br /&gt;
&lt;br /&gt;
TS can also be created by partial monosomy or disjunctions, meaning that although a whole X chromosome is not missing, portions of it are not present or are non-functional, rendering the chromosome useless.  Any disjunction seems to be completely sporadic and have yet to be attributed to any genetic link. The only thing known for sure is that during conception a portion of or the whole second sex chromosome is not conveyed to the zygote.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;7763055&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; Because at least one X chromosome is necessary for vital functions, this condition can only be found in females.&lt;br /&gt;
&lt;br /&gt;
== Clinical Manifestations ==&lt;br /&gt;
&lt;br /&gt;
The following are a list of characteristics and diseases which tend to accompany, be caused by, or be related to TS.  &lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| &lt;br /&gt;
| '''Clinical Manifestations'''&lt;br /&gt;
| '''Related Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Physical Attributes'''&lt;br /&gt;
|&lt;br /&gt;
*congenital malformations (heart, urinary system, face, neck, ears) &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*gonadal dysgenesis (causes oestrogen deficiencies, which can cause infertility) &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*increased risk of fractures &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16624607&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low cortical bone mineral density (BMD) &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;/&amp;gt;&lt;br /&gt;
*middle ear infections &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*premature ovarian failure &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*short/reduced stature &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*webbed neck &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;17562588&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Webbed Neck.jpg|none|thumb|250px|Figure 5: An example of neck webbing.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Prone to Develop Autoimmune Conditions'''&lt;br /&gt;
|&lt;br /&gt;
*alopecia areata &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coeliac disease (CD) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12466343&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*psoriasis &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;/&amp;gt;&lt;br /&gt;
*thyroiditis &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*type 1 diabetes &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
|[[File:Psoriasis.jpg|none|thumb|250px|Figure 6: An example of a patient with psoriasis on their arm.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Decreased Cognition'''&lt;br /&gt;
|&lt;br /&gt;
*emotion processing difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;20014362&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*increased impulsivity &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;19750135&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low IQ score &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
*nonverbal learning disability (slow math calculations)&amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*social cognition difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*visuoperception/visuoconstruction deficit (identifying and locating is difficult due to poor visual working memory) &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Increased Risk of'''&lt;br /&gt;
|&lt;br /&gt;
*cirrhosis of the liver &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*colon and rectal cancers &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*hypothyroidism &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*inflammatory bowel disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
*morbidity and mortality &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*neurovascular disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*osteoporosis &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*ovarian failure &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*renal and gastrointestinal disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Cardiac Abnormalities''' (most serious/life threatening medical problems created by TS)&lt;br /&gt;
|&lt;br /&gt;
*absence of portal vein &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16612647&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*aortic dilatation and dissection  &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*arrhythmias &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;17015510&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*arteriosclerosis &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*biscuspid aortic valves &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*coarctation of the aorta &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*hypertension &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*ischemic heart disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*prolapsed mitral valve &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
== Diagnostic Procedures ==&lt;br /&gt;
&lt;br /&gt;
===Diagnostic Definition===&lt;br /&gt;
&lt;br /&gt;
[[File:Turner Syndrome X Chromosome Variations.jpg|thumb|right|Figure 7: Variations of the Second X Chromosome in Turner Syndrome]]&lt;br /&gt;
TS is diagnosed through both an evaluation of physical features and by analysis of the second sex chromosome. The two criteria must be met for classification of TS, an abnormality in the second sex chromosome must be found and the abnormality must be found to be expressed somehow in the individual's traits. Hence if physical characteristics are not present even when the cytogenetic criterion is met the patient is not diagnosed as having TS.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; In TS the second sex chromosome is either:&lt;br /&gt;
&lt;br /&gt;
*Completely absent (45,X)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Partially absent&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
*Forms an isochromosome (isoXq), possessing a long arm duplication (q) and being devoid of a short arm (p)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*In a ring formation (rX)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
*Is devoid of the homeobox gene, [[#Glossary26 | '''SHOX''']] (short stature homeobox), the deletion being prior to the junction between Xp22.2 and Xp22.3&amp;lt;ref name=&amp;quot;PMID21325865&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
Any of these variations of the second sex chromosome may occur with or without cell line [[#Glossary20 | '''mosaicism''']].&lt;br /&gt;
TS may be diagnosed prenatally or postnatally, using this genetic diagnostic definition coupled with an appropriate phenotypic evaluation of the individual, as outlined below.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Prenatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
The prenatal diagnostic tool for TS is karyotype screening and testing for phenotype abnormalities. If TS is diagnosed prenatally, karyotype screening and an evaluation of the individual's traits should be conducted again postnatally for confirmation of this diagnosis. TS is frequently diagnosed after karyotype screening during [[#Glossary5 | '''chorionic villous sampling''']] or [[#Glossary2 | '''amniocentesis''']].&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
The table below outlines various prenatal tests conducted and the indications that may be present in babies with TS. Although these techniques and the indications they reveal may highlight TS signs, they should not be used as sole diagnostic tools.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Technique'''&lt;br /&gt;
| '''Turner syndrome indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Ultrasound'''&lt;br /&gt;
|&lt;br /&gt;
*Increased nuchal translucency &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary6 | '''Cystic hygroma''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Coarctation of the aorta &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Left-sided cardiac defects &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary3 | '''Brachycephaly''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Renal anomalies &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary23 | '''Polyhydramnios''']] &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary22 | '''Oligohydramnios''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Growth retardation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;10599686&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Turner Syndrome Test Showing Nuchal Translucency.gif|none|thumb|400px|Figure 8: Ultrasound Test Showing Nuchal Translucency.]]&lt;br /&gt;
[[File:Turner Syndrome Test Showing Cystic Hygroma.gif|none|thumb|400px|Figure 9: Ultrasound Test Showing Cystic Hygroma.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Maternal serum screening'''&lt;br /&gt;
|&lt;br /&gt;
*Abnormal [[#Glossary1 | '''α-fetoprotein''']] levels &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary16 | '''inhibin A''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary13 | '''hCG''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal unconjugated [[#Glossary9 | '''estriol''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
|[[File: TurnerSyndromeMaternalSerumSampling.jpg|none|thumb|400px|Figure 10: Maternal Serum Sampling.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
===Postnatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
In postnatal diagnosis, karyotype investigation is undertaken for the individual. When a female presents with the following clinical findings, explained in table below, it is recommended that chromosomal analysis is undertaken, so that TS may be eliminated&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;:&lt;br /&gt;
{|sstyle= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Age'''&lt;br /&gt;
| '''Phenotypic manifestations/indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Baby/infant'''&lt;br /&gt;
|&lt;br /&gt;
*Oedema of the hands or feet &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Nuchal folds &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Cardiac abnormalities for example aortic dilation, bicuspid aortic valve and aortic coarctation &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Low hairline &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Low set ears &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Small mandible &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Gonadal dysgenesis &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
|&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Child'''&lt;br /&gt;
| &lt;br /&gt;
*Short stature with low growth velocity &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Turned in elbows &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Nail [[#Glossary15 | '''hypoplasia''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Hyperconvex uplifted nails &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Multiple pigmented benign birthmarks/moles &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Characteristic faecies &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Short fourth metacarpal &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*High arched palate &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Extensive and chronic inflammation/infection of the ear &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Hearing loss &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 4 year old child.jpg|left|thumb|150px|Figure 11: Four-year-old girl with Turner syndrome. Note somewhat broad chest, prominent ears and ptosis, but otherwise normal proportion. There is no pronounced neck webbing or edema.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Adolescent/Adult'''&lt;br /&gt;
|&lt;br /&gt;
*Absence of breast development by 13 yr of age &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Pubertal arrest &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Primary or secondary amenorrhoea&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Unexplained short stature &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Renal abnormalities &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Immune disorders &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 35 year old woman.jpg|none|thumb|150px|Figure 12: A Thirty-five-year-old woman with Turner syndrome. Note increased carrying angle of arms, broad flat chest and sexual infantilism, but the lack of pronounced neck webbing or peripheral edema.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
Since an absence of the physical signs of puberty and/or growth failure are often seen as normal variations in the population, these possible indications/symptoms of TS may not be further investigated by many clinicians.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20361125&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; When karyotyping in order to exclude natural cell variation, a sufficient number of cells should be assessed. Whilst a sample of blood will often reveal TS, an evaluation of a second tissue sample like the skin is recommend.&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
[[#Glossary7 | '''DNA hybridisation''']] or fluorescent in situ hybridisation should be conducted using a Y centromeric or short arm probe to detect for any additional Y or X chromosomal material.&lt;br /&gt;
If there is any of the Y chromosome present, this may initiate gonadoblastoma development, another primary indicator of TS. Hence the individual should have both a vaginal [[#Glossary28 | '''ultrasonograph''']] and colour [[#Glossary8 | '''Doppler sonograph''']] of their gonads to detect whether any Y chromosome fragments are present. These tests should be repeated regularly to monitor the patient for any malignancy, if a gonadectomy is not undertaken.&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== Treatment ==&lt;br /&gt;
&lt;br /&gt;
=== Cardiac Treatment ===&lt;br /&gt;
&lt;br /&gt;
When patients are confirmed with TS, it is necessary to have a full cardiac evaulation including a physical exam and a echocardiogram. If cardiac abnormalities are found, monitoring by a cardiologist is recommended including regular blood pressure checks &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.   If no abnormalities are found, blood pressure in TS patients is still routinely checked and a follow up cardiac evaulation is recommended for girls around the age of puberty (12-15) &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. Coarctation of the aorta and hypoplastic left heart are quite often very serious issues which present in infancy&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt; which need to be dealt with surgically &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;. Aortic valves which are bicuspid rather than tricuspid are monitored regularly to ensure complications are found before they seriously effect the health of the patient. &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
=== Renal care ===&lt;br /&gt;
&lt;br /&gt;
Renal anomalies such as posteriorly rotated or horseshoe kidneys are assessed via an ultrasound to determine if any further treatment such as surgery or drug treatment is needed. This renal ultrasound is repeated again at the time the patient is handed over from the pediatic doctor to the adult specialist. &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
=== Liver function ===&lt;br /&gt;
&lt;br /&gt;
As abnormal liver function is highly prevelant in the TS community, liver function tests are performed when regular blood tests are performed. This is particularlly important test at the begining of puberty and when patients are transfered from their pediatrican to adult specialist to pick up any changes in liver enzymes, as raised levels may indicate the onset of cirrhosis of the liver&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
=== Speech and Feeding difficulties ===&lt;br /&gt;
Many TS patients have trouble with their speech. It is necessary for them to be refered to an Ear, Nose and Throat (ENT) specialist and to a speech therapist to work on improve any speech problems &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  TS infants also often suffer from feeding difficulties due to dysfunctional tongue movemnts, poor chewing skills and a highly arched palate. The ENT specialist and speech therapist may be able to help with improving chewing skills and settling down any difficulties &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Management of Puberty and Growth ===&lt;br /&gt;
&lt;br /&gt;
The main treatment for growth and pubertal development is Hormone Replacement Therapy. Growth Hormone is administered to girls with abnormal growth, resulting in postive growth that is consistent with the expected height of the patient. It is administered as early as 2 years of age, but more often in the age group of 9-12 which is in line with the growth spurt that occurs during puberty &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  &lt;br /&gt;
&lt;br /&gt;
Natural oestrogen and progesterone are administered to girls when they reach the age of puberty in early adolescence. The age at which this treatment commences varies between individuals, as does the dosage. The administration of oestrogen will begin the process of puberty in girls affected by TS and it is important that this begins around the same time as her peers &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;.The use of oestrogen is often held off if the patient is also undergoing GH treatment so that maximum growth can be achieved, as oestrogen will induce the fusion of the epiphyses and limit longitudinal bone growth &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  Around 10% of nonmosaic and 20% of mosaic women with TS will have spontaneous menses (periods) and may not need to undergo Hormone Replacement to initiate puberty. Around 2-5% of these women will have the potential to fall pregnant naturally &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
=== Appearance === &lt;br /&gt;
&lt;br /&gt;
Extreme neck webbing maybe worrying or uncomfortable to women with TS and in some cases plastic surgery such as Z-Plasty is undertaken to fix this problem. Surgery can however, leave scars which may further trouble patients and often advice is given to wear their hair long&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Foot problems are common in young girls with TS with short broad feet making it hard to buy and wear convential shoes&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;.Also if convex growth of toenails occurs, surgery is conducted so that the woman can wear normal shoes &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;. Referal to a podiatrist is necessary for correct up to date advice on foot care and for shoe fittings&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Ongoing Adult Treatment ===&lt;br /&gt;
&lt;br /&gt;
Closely monitoring the health of TS adults is vital in the reduction of morbidity and mortality. An annual physical evalution should be undertaken which includes, blood pressure, heart auscultation, thyroid function, breast exam, and pap smear&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. Particular attention needs to be taken in the area of weight and obesity in TS women due to their high risk of developing diabetes, osteoporosis and hypertension. Patients are to be encouraged to have a healthy lifestyle including healthy eating and exercise&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. Many TS women will need to undergo fertility treatment and in many cases need the assistance of an egg donation to fall pregnant. Counselling throughout this process is recommended as is the referal to a reproductive specialist with the patient feels ready to start a family &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Research ==&lt;br /&gt;
&lt;br /&gt;
===Current research===&lt;br /&gt;
&lt;br /&gt;
Since there is no preventative or cure, currently mainly research is being conducted into the areas of symptoms, possible treatments and risks involved with TS.&lt;br /&gt;
&lt;br /&gt;
'''Growth hormone therapy in Turner syndrome: its affect on height, weight and stature.'''&lt;br /&gt;
*'''Growth hormone effect on body composition in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21720878&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research findings from this paper conclude that people with TS have lower height, higher BMI and higher proportional sitting height and leg length than that of the normal population, no matter whether they undergo hormone replacement therapy or not.&lt;br /&gt;
*'''Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21619701&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study has concluded that all adults with TS had a similar quality of life regardless of whether they have a higher stature due to undergoing growth hormone replacement therapy or not. It was hypothesised that height differences did not affect quality of life as the individuals seemed to adapt to their own life challenges.&lt;br /&gt;
*'''Growth hormone treatment for Turner syndrome in Australia reveals that younger age and increased dose interact to improve response.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21375553&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research from this study found that growth hormone therapy works most optimally if given earlier in life and at a high dose in the first year of treatment.&lt;br /&gt;
*'''Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21398400&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: Another study which confers that the early introduction of growth hormone therapy is most efficacious. However the individual's glucose metabolism should be monitored as the hormones may affect glucose tolerance transiently.&lt;br /&gt;
&lt;br /&gt;
'''Oestrogen hormone replacement therapy in Turner syndrome: the adequate dosage and its effect on uterine development, breast development, bone mineral density and sexual characteristics.'''&lt;br /&gt;
*'''Growth hormone plus childhood low-dose oestrogen in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21449786&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study indicates that undergoing both growth hormone and oestrogen therapy together may help increase the efficacy of each (increasing growth in height and pubertal development) more than when they act alone. &lt;br /&gt;
*'''Oestrogen requirements in girls with Turner syndrome; how low is enough for initiating puberty and uterine development?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21793702&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study assessed the minimal dosage of oestrogen that is required to bring about desired pubertal development in girls with TS.&lt;br /&gt;
*'''Puberty induction in Turner syndrome: results of oestrogen treatment on development of secondary sexual characteristics, uterine dimensions and serum hormone levels.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19200215&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: It was found that uterus of women with TS who had undergone oestrogen was underdeveloped, however the exact cause of this needs to be further researched.&lt;br /&gt;
&lt;br /&gt;
'''Pregnancy and Turner syndrome: evaluation and treatment of risks involved with pregnancy for: the mothers of Turner syndrome babies, for individuals with Turner syndrome and for the babies of individuals with Turner syndrome.'''&lt;br /&gt;
*'''Familial occurrence of Turner syndrome: casual event or increased risk?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21648298&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research examined whether there is a higher probability of having a second child with Turner syndrome and concluded that there is evidence in the small cohort that they used of a greater probability. It is suggested that a larger study be conducted to look further into these findings.that &lt;br /&gt;
*'''Obstetric Outcomes in Women with Turner Karyotype.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21865365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: In this study it was found that women with TS had shorter pregnancies than that of a control group, but no other marked difference was observed between the groups.&lt;br /&gt;
*'''Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21496813&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This paper examined a number of pregnant women with TS, some who incidentally went through puberty even though they had no hormone replacement therapy and another group that had undertaken hormone replacement therapy. Though there were not many complications in either group, the groups were small in number and one mother did have cardiovascular difficulties later on in life. Hence a thorough examination of pregnant TS women should be conducted prior to conception.&lt;br /&gt;
*'''Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20923275&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This article assessed the prognosis of pregnant women with TS. They concluded that spontaneous pregnancy increases the risk of the baby having phenotypic and chromosomal abnormalities compared with women having assisted reproductive therapies.&lt;br /&gt;
&lt;br /&gt;
===Future research=== &lt;br /&gt;
&lt;br /&gt;
Future research needs to be conducted in the following areas: to follow up on the suggestions given in the conclusions of current research papers as outlined in the prior section and also into how the care system is functioning for TS individuals as outlined below.&lt;br /&gt;
&lt;br /&gt;
*'''Medical Care of Girls with Turner Syndrome: Where are we Lacking?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21454226&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research found that a large proportion (&amp;gt;50%) of people with TS are not given adequate information upon diagnosis or screenings for complications and symptoms. Therefore it is suggested in order to rectify this issue that more education should be given to physicians on the syndrome&lt;br /&gt;
*'''Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21752892&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; and '''Turner's syndrome requires multidisciplinary approach.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19514616&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: These article evaluate the need for a multidisciplinary approach to treatment of TS. Since the symptoms can be wide ranging and severe, it is difficult but necessary for all of them to be examined in each individual. Hence a greater care plan for individuals should be implemented upon diagnosis.&lt;br /&gt;
&lt;br /&gt;
== Related Pages ==&lt;br /&gt;
&lt;br /&gt;
*[[Genital System - Abnormalities]] : Other genital abnormalities are described here, which may assist in a differential diagnosis of TS.&lt;br /&gt;
&lt;br /&gt;
*[[X Chromosome]] : A more in depth description of the structure and role of the X chromosome.&lt;br /&gt;
&lt;br /&gt;
*[[Cell Division - Meiosis]] &amp;amp; [[Oocyte Development]]  : Examination of the process of meiosis and the developing oocyte, will assist in the comprehension of why and how there is and abnormality or absence of the X chromosome.&lt;br /&gt;
&lt;br /&gt;
*[[Menstrual Cycle]] : An abnormal menstrual cycle can often be an indicator of TS, hence this information on the normal menstrual pattern is helpful in understanding more about the symptoms and diagnosis of TS.&lt;br /&gt;
&lt;br /&gt;
== Glossary ==&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary1&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Alpha-fetoprotein''' is a protein with an unknown function. It makes up, up to one third of the protein serum levels found in the second trimester of pregnancy and in neural tube defects, these alpha-fetoprotein levels are elevated. &amp;lt;ref name=&amp;quot;McPherson&amp;quot;&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary2&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Amniocentesis''' is a prenatal diagnostic tool. The procedure involves the sampling of amniotic fluid from the amniotic sac using a syringe, that is then tested for a number of abnormalities. &amp;lt;ref name=&amp;quot;Moore&amp;quot;&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary3&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Brachycephaly''' is a condition where the coronal suture of the skull fuses prematurely. Since the skull is unable to expand any further in the anterior-posterior directions due to this closure, it grows to an abnormal size in in the lateral dimension.&amp;lt;ref&amp;gt;Flint, P 2010, ''Flint: Cummings Otolaryngology: Head &amp;amp; Neck Surgery, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-323-05283-2..00186-5--s0045&amp;amp;isbn=978-0-323-05283-2&amp;amp;uniqId=282726024-5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary4&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Coarctation''' of the aorta is an abnormality where the aorta is constricted at one or various sections. This can be caused by genetic and/or environmental factors.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary5&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Chorionic villous sampling''' is a prenatal diagnostic tool which can be used from 7 weeks after fertilisation. It is used to test for a number of chromosomal abnormalities including X-linked and metabolic disorders.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary6&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Cystic hygroma''' is a prenatal abnormality where fluid builds up in the posterior portion of the neck. The body may or may not relieve itself naturally of this accumulation of fluid after birth. &amp;lt;ref&amp;gt;Gabbe, S 2007, ''Gabbe: Obstetrics: Normal and Problem Pregnancies, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-443-06930-7..50011-6--cesec51&amp;amp;isbn=978-0-443-06930-7&amp;amp;uniqId=282726024-10&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary7&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''DNA-DNA hybridisation''' is a technique used to compare the similarities and differences between two sets of genes.&amp;lt;ref&amp;gt;Long, S 2009, ''Bradley: Neurology in Clinical Practice, 5th ed.Long: Principles and Practice of Pediatric Infectious Diseases Revised Reprint, 3rd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X&amp;amp;isbn=978-0-7020-3468-8&amp;amp;uniqId=282726024-19#4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary8&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Doppler sonography''' uses the doppler effect to help image and measure blood flow pattern in the patient.&amp;lt;ref name=&amp;quot;Bradley&amp;quot;&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary9&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Estriol''' is a hormone that is produced in greater amounts during pregnancy especially in the second and third trimester. One of its main functions is to assist with blood flow in the placenta and uterus.&amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary10&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Gametes''' are reproductive (sex) cells (ie: eggs and sperm) that can unite to form a new cell called a zygote. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6&amp;amp;isbn=978-0-443-06811-9&amp;amp;uniqId=283289096-4#4-u1.0-B978-0-443-06811-9..10001-6--b0020&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary11&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Gonadoblastoma''' is an abnormal proliferation of gonadal cells, that may or may not be malignant.&amp;lt;ref name=&amp;quot;Wein&amp;quot;&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary12&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Haploid''' is the status of a cell having only a single set of unpaired chromosomes, or half the number of chromosomes contained in typical body cells. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary13&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''hCG''' is the abbreviation for human chorionic gonadotropin. It is a hormone that functions in the early stage of pregnancy to maintain the blood supply to the corpus luteum.&amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary14&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Homologous chromosomes''' are pairs of chromosomes, one each obtained from maternal and paternal gametes.  46 total chromosome complements are within an organism, 22 pairs of which are homologous chromosomes (called autosomes); the other 2 chromosomes are the sex chromosomes. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary15&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Hypoplasia''' is when an organ or tissue is not completely developed.&amp;lt;ref name=&amp;quot;Wein&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary16&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Inhibin A''' is a peptide produced by the ovaries and acts to restrain the production of follicle-stimulating hormone.&amp;lt;ref&amp;gt;Melmed, S 2011, ''Melmed: Williams Textbook of Endocrinology, 12th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0324-5..00045-6&amp;amp;isbn=978-1-4377-0324-5&amp;amp;uniqId=282726024-25 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary17&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Karyotype''' is an individual's set of chromosomes, both their number and appearance.&amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary18&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Meiosis''' is the specific process of cell division within sex cells which halves the number of chromosomes in the cells through via two cell divisions; this is specific to germ cells only, creating haploid gametes (sex cells) from diploid cells. &amp;lt;ref name=&amp;quot;Moore2&amp;quot;&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary19&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Monosomy''' is a condition wherein a specific chromosome is completely missing within one gamete that combines with a normal gamete to form a zygote; a chromosome has no homologue, or matching chromosome, to pair with. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary20&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Mosaicism''' is when a particular type or all cells of an individual do not have the same genetic makeup. This is caused by a mutation during embryonic cell division.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary21&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Nondisjunction''' is the failure of chromosome pairs to separate entirely during either stage of Meiosis. &amp;lt;ref name=&amp;quot;Moore2&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary22&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Oligohydramnios''' is a prenatal condition, where there is an insufficient amount of amniotic fluid.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary23&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Polyhydramnios''' is a prenatal condition, where there is an excessive amount of amniotic fluid.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary24&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Random assortment''' is the idea first proposed by Gregor Mendel which states that pairs of alleles independently separate during the formation of gametes. &amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;   &lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary25&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Recombination''' is the process which by genetic material is crossed over and switched between two segments of DNA which adds to the genetic diversity of the genome.&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary26&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''SHOX gene''' is the short stature homeobox gene, that when deficient frequently results in short stature.&amp;lt;ref name=&amp;quot;PMID21325865&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary27&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Sister chromatids''' are 2 identical copies of a chromatin that are connected at a position in their center called a centromere. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;     &lt;br /&gt;
&lt;br /&gt;
&amp;lt;div id=&amp;quot;Glossary28&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Ultrasonography''' is a medical technique that employs ultrasound frequencies to visualise a patient's internal bodily structure.&amp;lt;ref name=&amp;quot;Bradley&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== References ==&lt;br /&gt;
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{{2011Projects}}&lt;/div&gt;</summary>
		<author><name>Z3217043</name></author>
	</entry>
	<entry>
		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=77731</id>
		<title>2011 Group Project 1</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=77731"/>
		<updated>2011-10-13T00:02:42Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: /* Epidemiology */&lt;/p&gt;
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&lt;div&gt;{{2011ProjectsMH}}&lt;br /&gt;
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== Turner Syndrome ==&lt;br /&gt;
&lt;br /&gt;
== Introduction ==&lt;br /&gt;
&lt;br /&gt;
[[File:Karyotype.jpg|250px|thumb|right|Figure 1: The arrow indicates the presence of only one X chromosome in Karyotype &amp;lt;ref name= &amp;quot;PMID20680156&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;20680156&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.]]&lt;br /&gt;
&lt;br /&gt;
Turner Syndrome (TS), named after Henry Hubert Turner who first described the syndrome in his paper in 1938,&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;4557013&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; is one of the most commonly occuring chromosomal disorders. It is caused by a complete or partial X [[#Glossary19 | '''monosomy''']] in some or all cells and occurs in approximately 1 in 2000 live births in females only. The morbidity rate of spontaneous abortions is 10% and only about 1% of fetuses survive to term. &lt;br /&gt;
&lt;br /&gt;
During normal fetal development, each ovary contain as many as 7 million oocytes. The oocytes gradually reduce to 400,000 during menarche, and during menopause fewer than 10,000 remain. However in TS, the ovaries develop normally during embryogenesis but the absence of the second X chromosome leads to an accelerated loss of oocytes, which is complete by the time the infant reaches 2 years of age. Genetically, menopause occurs before menarche and the ovaries are reduced to atrophic fibrous strands, devoid of ova and follicles (streak ovaries). Development of somatic (nongonadal) tissues that gentically resides on the missing or abnormal X chromosome are also severely affected. For example short stature is caused by a deletion of the Xp chromosome and the deletion of Xq causes gonadal dysfunction &amp;lt;ref&amp;gt;Pathologic Basis of Disease, 8th Ed. V. Kumar, R. Cotran &amp;amp; S Robbins (2007), Saunders &amp;amp; Co.&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The most frequent clinical features of TS are short stature and gonadal dysgenesis. Other features may include [[#Glossary4 | '''coarctation''']] of the aorta, renal anomalies, neck webbing and lymphoedema. People who have TS all vary in their clinical phenotype. In recent years there has been increased interest in TS due to the introduction of growth hormone treatment and there has been marked improvement in the understanding of this condition as advances in molecular genetic techniques occur. However, there is still need for further research as a multidisciplinary approach to treatment is vital in improving the quality of life of girls with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Epidemiology ==&lt;br /&gt;
&lt;br /&gt;
[[File:Stats abnormal.jpg|225px|thumb|left|Figure 2: The arrow indicates the presence of only one X chromosome in the karyotype &amp;lt;ref name= &amp;quot;PMID20680156&amp;quot;/&amp;gt;.]]&lt;br /&gt;
&lt;br /&gt;
TS affects about 1 in 2000 live-born females. There are three types of karyotypic abnormalities but the most frequently observed is the entire X chromosome deletion resulting in 45 X [[#Glossary17 | '''karyotype''']]. The remaining third have structural abnormalities of the X chromosomes and two thirds are mosaics, whereby, the maternal X is retained in two-thirds of women and the paternal X in the remainder.&lt;br /&gt;
&lt;br /&gt;
The phenotype of TS varies but involves anomalies of the sex chromosome. It could be caused by the limited amount of genetic material in these abnormal chromosomes. TS can be transmitted from mother to daughter, and thus could be described as a heredity linked syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The loss of one of the sex chromosomes in TS, occurs after the zygote has formed or just after the fusion of the [[#Glossary10 | '''gametes''']]. In 70-80% of cases the retained X chromosome is inherited from the mother. In such circumstances it has led to the different phenotypic expression of the genes present on the X chromosome depending if inherited from the maternally or paternally. The morphological differences from those retaining the maternal, compared to retaining the paternal X chromosome, have shown to have a greater incidence of cardiovascular anomalies and neck webbing. &lt;br /&gt;
&lt;br /&gt;
The missing sex chromosome could be either an X or a Y. This has clinical implications because if the Y material is present there is a risk of up to 30% of [[#Glossary11 | '''gonadoblastoma''']] developing in the dysgenetic gonads. This is because the 'gonadoblastoma locus' is located on the Y chromosome which is situated just below the centromere.&lt;br /&gt;
The inactivation of the abnormal X chromosomes is another cause that primarily affects hypogonadism phenotypically in females.  &amp;lt;ref&amp;gt;Wade, Nicholas (2009-09-15). '''&amp;quot;New Clues to Sex Anomalies in How Y Chromosomes Are Copied&amp;quot;'''. The New York Times. Retrieved 2010-05-26. http://www.nytimes.com/2009/09/15/science/15chrom.html?pagewanted=1&amp;amp;_r=1&amp;amp;hpw&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Etiology ==&lt;br /&gt;
[[File:nondisjunction.jpg|1000px|thumb|right|alt text|Figure 3: This figure shows the progeny created from normal disjunction (A), and non-disjunction during both Meiosis I (B) and Meiosis II (C).]]&lt;br /&gt;
&lt;br /&gt;
Causation of TS can be traced back to the stages of sex-cell development.  When sex cells divide through a process called [[#Glossary18 | '''meiosis''']] to create gametes, either a [[#Glossary12 | '''haploid''']] egg (for females) or sperm (for males) two divisions occur, Meiosis I and Meiosis II.  Meiosis is the main process which helps create the vast genetic diversity within all populations by allowing [[#Glossary25 | '''recombination''']] and [[#Glossary24 | '''random assortment''']].  During Meiosis I [[#Glossary14 | '''homologous chromosomes''']] are separated; following Meiosis I, [[#Glossary27 | '''sister chromatids''']] separate during Meiosis II.  If during either stage of Meiosis I or II the homologous chromosomes or sister chromatids, respectively, do not fully separate, a phenomenon can occur called [[#Glossary21 | '''nondisjunction''']].  Nondisjunction causes an uneven distribution of genetic material to each daughter nuclei.  When an uneven distribution is such that one of the gametes does not have any of a chromosome, it can combine with another normal gamete to create a fertilized egg with only one chromosome as opposed to the normal two that are found in human cells; this is called a monosomy.  When this occurs in the sex chromosomes leaving only a single X chromosome (X0 genotype) TS is created, leaving only 45 chromosomes in the zygote rather than the normal 46.  &lt;br /&gt;
&lt;br /&gt;
[[File:22+23=45.jpg|400px|thumb|right|Figure 4: 22 chromosomal egg + 23 chromosomal sperm = 45 chromsomes in zygote instead of normal 46.]]&lt;br /&gt;
&lt;br /&gt;
TS can also be created by partial monosomy or disjunctions, meaning that although a whole X chromosome is not missing, portions of it are not present or are non-functional, rendering the chromosome useless.  Any disjunction seems to be completely sporadic and have yet to be attributed to any genetic link. The only thing known for sure is that during conception a portion of or the whole second sex chromosome is not conveyed to the zygote.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;7763055&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; Because at least one X chromosome is necessary for vital functions, this condition can only be found in females.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Clinical Manifestations ==&lt;br /&gt;
&lt;br /&gt;
The following are a list of characteristics and diseases which tend to accompany, be caused by, or be related to TS.  &lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| &lt;br /&gt;
| '''Clinical Manifestations'''&lt;br /&gt;
| '''Related Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Physical Attributes'''&lt;br /&gt;
|&lt;br /&gt;
*congenital malformations (heart, urinary system, face, neck, ears) &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*gonadal dysgenesis (causes oestrogen deficiencies, which can cause infertility) &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*increased risk of fractures &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16624607&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low cortical bone mineral density (BMD) &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;/&amp;gt;&lt;br /&gt;
*middle ear infections &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*premature ovarian failure &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*short/reduced stature &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*webbed neck &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;17562588&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Webbed Neck.jpg|none|thumb|250px|Figure 5: An example of neck webbing.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Prone to Develop Autoimmune Conditions'''&lt;br /&gt;
|&lt;br /&gt;
*alopecia areata &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coeliac disease (CD) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12466343&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*psoriasis &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;/&amp;gt;&lt;br /&gt;
*thyroiditis &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*type 1 diabetes &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
|[[File:Psoriasis.jpg|none|thumb|250px|Figure 6: An example of a patient with psoriasis on their arm.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Decreased Cognition'''&lt;br /&gt;
|&lt;br /&gt;
*emotion processing difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;20014362&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*increased impulsivity &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;19750135&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low IQ score &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
*nonverbal learning disability (slow math calculations)&amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*social cognition difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*visuoperception/visuoconstruction deficit (identifying and locating is difficult due to poor visual working memory) &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Increased Risk of'''&lt;br /&gt;
|&lt;br /&gt;
*cirrhosis of the liver &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*colon and rectal cancers &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*hypothyroidism &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*inflammatory bowel disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
*morbidity and mortality &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*neurovascular disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*osteoporosis &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*ovarian failure &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*renal and gastrointestinal disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Cardiac Abnormalities''' (most serious/life threatening medical problems created by TS)&lt;br /&gt;
|&lt;br /&gt;
*absence of portal vein &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16612647&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*aortic dilatation and dissection  &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*arrhythmias &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;17015510&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*arteriosclerosis &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*biscuspid aortic valves &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*coarctation of the aorta &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*hypertension &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*ischemic heart disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*prolapsed mitral valve &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
== Diagnostic Procedures ==&lt;br /&gt;
&lt;br /&gt;
===Diagnostic Definition===&lt;br /&gt;
&lt;br /&gt;
[[File:Turner Syndrome X Chromosome Variations.jpg|thumb|right|Figure 7: Variations of the Second X Chromosome in Turner Syndrome]]&lt;br /&gt;
TS is diagnosed through both an evaluation of physical features and by analysis of the second sex chromosome. The two criteria must be met for classification of TS, an abnormality in the second sex chromosome must be found and the abnormality must be found to be expressed somehow in the individual's traits. Hence if physical characteristics are not present even when the cytogenetic criterion is met the patient is not diagnosed as having TS.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; In TS the second sex chromosome is either:&lt;br /&gt;
&lt;br /&gt;
*Completely absent (45,X)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Partially absent&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
*Forms an isochromosome (isoXq), possessing a long arm duplication (q) and being devoid of a short arm (p)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*In a ring formation (rX)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
*Is devoid of the homeobox gene, [[#Glossary26 | '''SHOX''']] (short stature homeobox), the deletion being prior to the junction between Xp22.2 and Xp22.3&amp;lt;ref name=&amp;quot;PMID21325865&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
Any of these variations of the second sex chromosome may occur with or without cell line [[#Glossary20 | '''mosaicism''']].&lt;br /&gt;
TS may be diagnosed prenatally or postnatally, using this genetic diagnostic definition coupled with an appropriate phenotypic evaluation of the individual, as outlined below.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Prenatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
The prenatal diagnostic tool for TS is karyotype screening and testing for phenotype abnormalities. If TS is diagnosed prenatally, karyotype screening and an evaluation of the individual's traits should be conducted again postnatally for confirmation of this diagnosis. TS is frequently diagnosed after karyotype screening during [[#Glossary5 | '''chorionic villous sampling''']] or [[#Glossary2 | '''amniocentesis''']].&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
The table below outlines various prenatal tests conducted and the indications that may be present in babies with TS. Although these techniques and the indications they reveal may highlight TS signs, they should not be used as sole diagnostic tools.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Technique'''&lt;br /&gt;
| '''Turner syndrome indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Ultrasound'''&lt;br /&gt;
|&lt;br /&gt;
*Increased nuchal translucency &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary6 | '''Cystic hygroma''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Coarctation of the aorta &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Left-sided cardiac defects &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary3 | '''Brachycephaly''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Renal anomalies &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary23 | '''Polyhydramnios''']] &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary22 | '''Oligohydramnios''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Growth retardation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;10599686&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Turner Syndrome Test Showing Nuchal Translucency.gif|none|thumb|400px|Figure 8: Ultrasound Test Showing Nuchal Translucency.]]&lt;br /&gt;
[[File:Turner Syndrome Test Showing Cystic Hygroma.gif|none|thumb|400px|Figure 9: Ultrasound Test Showing Cystic Hygroma.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Maternal serum screening'''&lt;br /&gt;
|&lt;br /&gt;
*Abnormal [[#Glossary1 | '''α-fetoprotein''']] levels &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary16 | '''inhibin A''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary13 | '''hCG''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal unconjugated [[#Glossary9 | '''estriol''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
|[[File: TurnerSyndromeMaternalSerumSampling.jpg|none|thumb|400px|Figure 10: Maternal Serum Sampling.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Postnatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
In postnatal diagnosis, karyotype investigation is undertaken for the individual. When a female presents with the following clinical findings, explained in table below, it is recommended that chromosomal analysis is undertaken, so that TS may be eliminated&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;:&lt;br /&gt;
{|sstyle= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Age'''&lt;br /&gt;
| '''Phenotypic manifestations/indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Baby/infant'''&lt;br /&gt;
|&lt;br /&gt;
*Oedema of the hands or feet &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Nuchal folds &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Cardiac abnormalities for example aortic dilation, bicuspid aortic valve and aortic coarctation &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Low hairline &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Low set ears &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Small mandible &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Gonadal dysgenesis &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
|&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Child'''&lt;br /&gt;
| &lt;br /&gt;
*Short stature with low growth velocity &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Turned in elbows &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Nail [[#Glossary15 | '''hypoplasia''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Hyperconvex uplifted nails &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Multiple pigmented benign birthmarks/moles &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Characteristic faecies &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Short fourth metacarpal &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*High arched palate &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Extensive and chronic inflammation/infection of the ear &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Hearing loss &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 4 year old child.jpg|left|thumb|150px|Figure 11: Four-year-old girl with Turner syndrome. Note somewhat broad chest, prominent ears and ptosis, but otherwise normal proportion. There is no pronounced neck webbing or edema.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Adolescent/Adult'''&lt;br /&gt;
|&lt;br /&gt;
*Absence of breast development by 13 yr of age &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Pubertal arrest &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Primary or secondary amenorrhoea&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Unexplained short stature &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Renal abnormalities &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Immune disorders &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 35 year old woman.jpg|none|thumb|150px|Figure 12: A Thirty-five-year-old woman with Turner syndrome. Note increased carrying angle of arms, broad flat chest and sexual infantilism, but the lack of pronounced neck webbing or peripheral edema.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Since an absence of the physical signs of puberty and/or growth failure are often seen as normal variations in the population, these possible indications/symptoms of TS may not be further investigated by many clinicians.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20361125&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; When karyotyping in order to exclude natural cell variation, a sufficient number of cells should be assessed. Whilst a sample of blood will often reveal TS, an evaluation of a second tissue sample like the skin is recommend.&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
[[#Glossary7 | '''DNA hybridisation''']] or fluorescent in situ hybridisation should be conducted using a Y centromeric or short arm probe to detect for any additional Y or X chromosomal material.&lt;br /&gt;
If there is any of the Y chromosome present, this may initiate gonadoblastoma development, another primary indicator of TS. Hence the individual should have both a vaginal [[#Glossary28 | '''ultrasonograph''']] and colour [[#Glossary8 | '''Doppler sonograph''']] of their gonads to detect whether any Y chromosome fragments are present. These tests should be repeated regularly to monitor the patient for any malignancy, if a gonadectomy is not undertaken.&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Treatment ==&lt;br /&gt;
&lt;br /&gt;
=== Cardiac Treatment ===&lt;br /&gt;
&lt;br /&gt;
When patients are confirmed with TS, it is necessary to have a full cardiac evaulation including a physical exam and a echocardiogram. If cardiac abnormalities are found, monitoring by a cardiologist is recommended including regular blood pressure checks &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.   If no abnormalities are found, blood pressure in TS patients is still routinely checked and a follow up cardiac evaulation is recommended for girls around the age of puberty (12-15) &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. Coarctation of the aorta and hypoplastic left heart are quite often very serious issues which present in infancy&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt; which need to be dealt with surgically &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;. Aortic valves which are bicuspid rather than tricuspid are monitored regularly to ensure complications are found before they seriously effect the health of the patient. &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
=== Renal care ===&lt;br /&gt;
&lt;br /&gt;
Renal anomalies such as posteriorly rotated or horseshoe kidneys are assessed via an ultrasound to determine if any further treatment such as surgery or drug treatment is needed. This renal ultrasound is repeated again at the time the patient is handed over from the pediatic doctor to the adult specialist. &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
=== Liver function ===&lt;br /&gt;
&lt;br /&gt;
As abnormal liver function is highly prevelant in the TS community, liver function tests are performed when regular blood tests are performed. This is particularlly important test at the begining of puberty and when patients are transfered from their pediatrican to adult specialist to pick up any changes in liver enzymes, as raised levels may indicate the onset of cirrhosis of the liver&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
=== Speech and Feeding difficulties ===&lt;br /&gt;
Many TS patients have trouble with their speech. It is necessary for them to be refered to an Ear, Nose and Throat (ENT) specialist and to a speech therapist to work on improve any speech problems &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  TS infants also often suffer from feeding difficulties due to dysfunctional tongue movemnts, poor chewing skills and a highly arched palate. The ENT specialist and speech therapist may be able to help with improving chewing skills and settling down any difficulties &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Management of Puberty and Growth ===&lt;br /&gt;
&lt;br /&gt;
The main treatment for growth and pubertal development is Hormone Replacement Therapy. Growth Hormone is administered to girls with abnormal growth, resulting in postive growth that is consistent with the expected height of the patient. It is administered as early as 2 years of age, but more often in the age group of 9-12 which is in line with the growth spurt that occurs during puberty &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  &lt;br /&gt;
&lt;br /&gt;
Natural oestrogen and progesterone are administered to girls when they reach the age of puberty in early adolescence. The age at which this treatment commences varies between individuals, as does the dosage. The administration of oestrogen will begin the process of puberty in girls affected by TS and it is important that this begins around the same time as her peers &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;.The use of oestrogen is often held off if the patient is also undergoing GH treatment so that maximum growth can be achieved, as oestrogen will induce the fusion of the epiphyses and limit longitudinal bone growth &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  Around 10% of nonmosaic and 20% of mosaic women with TS will have spontaneous menses (periods) and may not need to undergo Hormone Replacement to initiate puberty. Around 2-5% of these women will have the potential to fall pregnant naturally &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
=== Appearance === &lt;br /&gt;
&lt;br /&gt;
Extreme neck webbing maybe worrying or uncomfortable to women with TS and in some cases plastic surgery such as Z-Plasty is undertaken to fix this problem. Surgery can however, leave scars which may further trouble patients and often advice is given to wear their hair long&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Foot problems are common in young girls with TS with short broad feet making it hard to buy and wear convential shoes&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;.Also if convex growth of toenails occurs, surgery is conducted so that the woman can wear normal shoes &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;. Referal to a podiatrist is necessary for correct up to date advice on foot care and for shoe fittings&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Ongoing Adult Treatment ===&lt;br /&gt;
&lt;br /&gt;
Closely monitoring the health of TS adults is vital in the reduction of morbidity and mortality. An annual physical evalution should be undertaken which includes, blood pressure, heart auscultation, thyroid function, breast exam, and pap smear&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. Particular attention needs to be taken in the area of weight and obesity in TS women due to their high risk of developing diabetes, osteoporosis and hypertension. Patients are to be encouraged to have a healthy lifestyle including healthy eating and exercise&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. Many TS women will need to undergo fertility treatment and in many cases need the assistance of an egg donation to fall pregnant. Counselling throughout this process is recommended as is the referal to a reproductive specialist with the patient feels ready to start a family &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Research ==&lt;br /&gt;
&lt;br /&gt;
===Current research===&lt;br /&gt;
&lt;br /&gt;
Since there is no preventative or cure, currently mainly research is being conducted into the areas of symptoms, possible treatments and risks involved with TS.&lt;br /&gt;
&lt;br /&gt;
'''Growth hormone therapy in Turner syndrome: its affect on height, weight and stature.'''&lt;br /&gt;
*'''Growth hormone effect on body composition in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21720878&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research findings from this paper conclude that people with TS have lower height, higher BMI and higher proportional sitting height and leg length than that of the normal population, no matter whether they undergo hormone replacement therapy or not.&lt;br /&gt;
*'''Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21619701&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study has concluded that all adults with TS had a similar quality of life regardless of whether they have a higher stature due to undergoing growth hormone replacement therapy or not. It was hypothesised that height differences did not affect quality of life as the individuals seemed to adapt to their own life challenges.&lt;br /&gt;
*'''Growth hormone treatment for Turner syndrome in Australia reveals that younger age and increased dose interact to improve response.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21375553&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research from this study found that growth hormone therapy works most optimally if given earlier in life and at a high dose in the first year of treatment.&lt;br /&gt;
*'''Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21398400&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: Another study which confers that the early introduction of growth hormone therapy is most efficacious. However the individual's glucose metabolism should be monitored as the hormones may affect glucose tolerance transiently.&lt;br /&gt;
&lt;br /&gt;
'''Oestrogen hormone replacement therapy in Turner syndrome: the adequate dosage and its effect on uterine development, breast development, bone mineral density and sexual characteristics.'''&lt;br /&gt;
*'''Growth hormone plus childhood low-dose oestrogen in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21449786&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study indicates that undergoing both growth hormone and oestrogen therapy together may help increase the efficacy of each (increasing growth in height and pubertal development) more than when they act alone. &lt;br /&gt;
*'''Oestrogen requirements in girls with Turner syndrome; how low is enough for initiating puberty and uterine development?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21793702&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study assessed the minimal dosage of oestrogen that is required to bring about desired pubertal development in girls with TS.&lt;br /&gt;
*'''Puberty induction in Turner syndrome: results of oestrogen treatment on development of secondary sexual characteristics, uterine dimensions and serum hormone levels.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19200215&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: It was found that uterus of women with TS who had undergone oestrogen was underdeveloped, however the exact cause of this needs to be further researched.&lt;br /&gt;
&lt;br /&gt;
'''Pregnancy and Turner syndrome: evaluation and treatment of risks involved with pregnancy for: the mothers of Turner syndrome babies, for individuals with Turner syndrome and for the babies of individuals with Turner syndrome.'''&lt;br /&gt;
*'''Familial occurrence of Turner syndrome: casual event or increased risk?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21648298&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research examined whether there is a higher probability of having a second child with Turner syndrome and concluded that there is evidence in the small cohort that they used of a greater probability. It is suggested that a larger study be conducted to look further into these findings.that &lt;br /&gt;
*'''Obstetric Outcomes in Women with Turner Karyotype.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21865365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: In this study it was found that women with TS had shorter pregnancies than that of a control group, but no other marked difference was observed between the groups.&lt;br /&gt;
*'''Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21496813&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This paper examined a number of pregnant women with TS, some who incidentally went through puberty even though they had no hormone replacement therapy and another group that had undertaken hormone replacement therapy. Though there were not many complications in either group, the groups were small in number and one mother did have cardiovascular difficulties later on in life. Hence a thorough examination of pregnant TS women should be conducted prior to conception.&lt;br /&gt;
*'''Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20923275&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This article assessed the prognosis of pregnant women with TS. They concluded that spontaneous pregnancy increases the risk of the baby having phenotypic and chromosomal abnormalities compared with women having assisted reproductive therapies.&lt;br /&gt;
&lt;br /&gt;
===Future research=== &lt;br /&gt;
&lt;br /&gt;
Future research needs to be conducted in the following areas: to follow up on the suggestions given in the conclusions of current research papers as outlined in the prior section and also into how the care system is functioning for TS individuals as outlined below.&lt;br /&gt;
&lt;br /&gt;
*'''Medical Care of Girls with Turner Syndrome: Where are we Lacking?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21454226&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research found that a large proportion (&amp;gt;50%) of people with TS are not given adequate information upon diagnosis or screenings for complications and symptoms. Therefore it is suggested in order to rectify this issue that more education should be given to physicians on the syndrome&lt;br /&gt;
*'''Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21752892&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; and '''Turner's syndrome requires multidisciplinary approach.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19514616&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: These article evaluate the need for a multidisciplinary approach to treatment of TS. Since the symptoms can be wide ranging and severe, it is difficult but necessary for all of them to be examined in each individual. Hence a greater care plan for individuals should be implemented upon diagnosis.&lt;br /&gt;
&lt;br /&gt;
== Related Pages ==&lt;br /&gt;
&lt;br /&gt;
*[[Genital System - Abnormalities]] : Other genital abnormalities are described here, which may assist in a differential diagnosis of TS.&lt;br /&gt;
&lt;br /&gt;
*[[X Chromosome]] : A more in depth description of the structure and role of the X chromosome.&lt;br /&gt;
&lt;br /&gt;
*[[Cell Division - Meiosis]] &amp;amp; [[Oocyte Development]]  : Examination of the process of meiosis and the developing oocyte, will assist in the comprehension of why and how there is and abnormality or absence of the X chromosome.&lt;br /&gt;
&lt;br /&gt;
*[[Menstrual Cycle]] : An abnormal menstrual cycle can often be an indicator of TS, hence this information on the normal menstrual pattern is helpful in understanding more about the symptoms and diagnosis of TS.&lt;br /&gt;
&lt;br /&gt;
== Glossary ==&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary1&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Alpha-fetoprotein''' is a protein with an unknown function. It makes up, up to one third of the protein serum levels found in the second trimester of pregnancy and in neural tube defects, these alpha-fetoprotein levels are elevated. &amp;lt;ref name=&amp;quot;McPherson&amp;quot;&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary2&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Amniocentesis''' is a prenatal diagnostic tool. The procedure involves the sampling of amniotic fluid from the amniotic sac using a syringe, that is then tested for a number of abnormalities. &amp;lt;ref name=&amp;quot;Moore&amp;quot;&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary3&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Brachycephaly''' is a condition where the coronal suture of the skull fuses prematurely. Since the skull is unable to expand any further in the anterior-posterior directions due to this closure, it grows to an abnormal size in in the lateral dimension.&amp;lt;ref&amp;gt;Flint, P 2010, ''Flint: Cummings Otolaryngology: Head &amp;amp; Neck Surgery, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-323-05283-2..00186-5--s0045&amp;amp;isbn=978-0-323-05283-2&amp;amp;uniqId=282726024-5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary4&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Coarctation''' of the aorta is an abnormality where the aorta is constricted at one or various sections. This can be caused by genetic and/or environmental factors.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary5&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Chorionic villous sampling''' is a prenatal diagnostic tool which can be used from 7 weeks after fertilisation. It is used to test for a number of chromosomal abnormalities including X-linked and metabolic disorders.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary6&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Cystic hygroma''' is a prenatal abnormality where fluid builds up in the posterior portion of the neck. The body may or may not relieve itself naturally of this accumulation of fluid after birth. &amp;lt;ref&amp;gt;Gabbe, S 2007, ''Gabbe: Obstetrics: Normal and Problem Pregnancies, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-443-06930-7..50011-6--cesec51&amp;amp;isbn=978-0-443-06930-7&amp;amp;uniqId=282726024-10&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary7&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''DNA-DNA hybridisation''' is a technique used to compare the similarities and differences between two sets of genes.&amp;lt;ref&amp;gt;Long, S 2009, ''Bradley: Neurology in Clinical Practice, 5th ed.Long: Principles and Practice of Pediatric Infectious Diseases Revised Reprint, 3rd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X&amp;amp;isbn=978-0-7020-3468-8&amp;amp;uniqId=282726024-19#4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary8&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Doppler sonography''' uses the doppler effect to help image and measure blood flow pattern in the patient.&amp;lt;ref name=&amp;quot;Bradley&amp;quot;&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary9&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Estriol''' is a hormone that is produced in greater amounts during pregnancy especially in the second and third trimester. One of its main functions is to assist with blood flow in the placenta and uterus.&amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary10&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Gametes''' are reproductive (sex) cells (ie: eggs and sperm) that can unite to form a new cell called a zygote. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6&amp;amp;isbn=978-0-443-06811-9&amp;amp;uniqId=283289096-4#4-u1.0-B978-0-443-06811-9..10001-6--b0020&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary11&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Gonadoblastoma''' is an abnormal proliferation of gonadal cells, that may or may not be malignant.&amp;lt;ref name=&amp;quot;Wein&amp;quot;&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary12&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Haploid''' is the status of a cell having only a single set of unpaired chromosomes, or half the number of chromosomes contained in typical body cells. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary13&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''hCG''' is the abbreviation for human chorionic gonadotropin. It is a hormone that functions in the early stage of pregnancy to maintain the blood supply to the corpus luteum.&amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary14&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Homologous chromosomes''' are pairs of chromosomes, one each obtained from maternal and paternal gametes.  46 total chromosome complements are within an organism, 22 pairs of which are homologous chromosomes (called autosomes); the other 2 chromosomes are the sex chromosomes. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary15&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Hypoplasia''' is when an organ or tissue is not completely developed.&amp;lt;ref name=&amp;quot;Wein&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary16&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Inhibin A''' is a peptide produced by the ovaries and acts to restrain the production of follicle-stimulating hormone.&amp;lt;ref&amp;gt;Melmed, S 2011, ''Melmed: Williams Textbook of Endocrinology, 12th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0324-5..00045-6&amp;amp;isbn=978-1-4377-0324-5&amp;amp;uniqId=282726024-25 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary17&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Karyotype''' is an individual's set of chromosomes, both their number and appearance.&amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary18&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Meiosis''' is the specific process of cell division within sex cells which halves the number of chromosomes in the cells through via two cell divisions; this is specific to germ cells only, creating haploid gametes (sex cells) from diploid cells. &amp;lt;ref name=&amp;quot;Moore2&amp;quot;&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary19&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Monosomy''' is a condition wherein a specific chromosome is completely missing within one gamete that combines with a normal gamete to form a zygote; a chromosome has no homologue, or matching chromosome, to pair with. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary20&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Mosaicism''' is when a particular type or all cells of an individual do not have the same genetic makeup. This is caused by a mutation during embryonic cell division.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary21&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Nondisjunction''' is the failure of chromosome pairs to separate entirely during either stage of Meiosis. &amp;lt;ref name=&amp;quot;Moore2&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary22&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Oligohydramnios''' is a prenatal condition, where there is an insufficient amount of amniotic fluid.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary23&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Polyhydramnios''' is a prenatal condition, where there is an excessive amount of amniotic fluid.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary24&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Random assortment''' is the idea first proposed by Gregor Mendel which states that pairs of alleles independently separate during the formation of gametes. &amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;   &lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary25&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Recombination''' is the process which by genetic material is crossed over and switched between two segments of DNA which adds to the genetic diversity of the genome.&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary26&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''SHOX gene''' is the short stature homeobox gene, that when deficient frequently results in short stature.&amp;lt;ref name=&amp;quot;PMID21325865&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary27&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Sister chromatids''' are 2 identical copies of a chromatin that are connected at a position in their center called a centromere. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;     &lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary28&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Ultrasonography''' is a medical technique that employs ultrasound frequencies to visualise a patient's internal bodily structure.&amp;lt;ref name=&amp;quot;Bradley&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== References ==&lt;br /&gt;
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&amp;lt;references/&amp;gt;&lt;br /&gt;
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&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
----&lt;br /&gt;
{{2011Projects}}&lt;/div&gt;</summary>
		<author><name>Z3217043</name></author>
	</entry>
	<entry>
		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=User:Z3217043&amp;diff=77729</id>
		<title>User:Z3217043</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=User:Z3217043&amp;diff=77729"/>
		<updated>2011-10-13T00:01:22Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: &lt;/p&gt;
&lt;hr /&gt;
&lt;div&gt;{{2011Student}}&lt;br /&gt;
&lt;br /&gt;
== LAB ATTENDANCE ==&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:20, 6 October 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:21, 29 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 10:59, 15 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:09, 1 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:09, 25 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:07, 18 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:40, 11 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:11, 4 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|Z3217043]] 12:55, 28 July 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
== Group Project COntribution ==&lt;br /&gt;
&lt;br /&gt;
I contributed to the Treatment and Introduction sections. I edited all my work in Word before I added it to the group page to avoid leaving the editing sections open for too long.&lt;br /&gt;
&lt;br /&gt;
I also formatted all of the references so there was no double ups and editted the website for grammer and sentence structure. This is as of the 13/10/2011. &lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 10 ==&lt;br /&gt;
&lt;br /&gt;
1.Besides fetal alcohol syndrome, identify another environmental teratogen that can lead to hearing loss. &lt;br /&gt;
&lt;br /&gt;
Maternal Diabetes&lt;br /&gt;
&lt;br /&gt;
2.Identify 3 factors that contribute to poor neonatal drainage of the middle ear. &lt;br /&gt;
&lt;br /&gt;
Opened by only the tensor palatini muscle, narrow and almost horizontal. &lt;br /&gt;
&lt;br /&gt;
3.Identify 1 genetic abnormality that affects hearing development and link to the OMIM record. (Your individual abnormality should be different from all other students)&lt;br /&gt;
&lt;br /&gt;
FIBROBLAST GROWTH FACTOR 3; FGF3 [http://www.omim.org/entry/164950]&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 8 ==&lt;br /&gt;
&lt;br /&gt;
Group 2 Peer Review&lt;br /&gt;
&lt;br /&gt;
:*The first three sentences about congenital disease is misplaced. This should be in your glossary, not in your very first sentences. &lt;br /&gt;
&lt;br /&gt;
:*The common symptoms could be left out of the introduction and discussed in the appropriate section. &lt;br /&gt;
&lt;br /&gt;
:*Written like an essay rather than a webpage. Language such as “for example” not necessary. &lt;br /&gt;
&lt;br /&gt;
:*Clinical Diagnosis was well structured and good use of pictures. &lt;br /&gt;
&lt;br /&gt;
:*Clinical Manifestations could be simplified slightly in the table. &lt;br /&gt;
&lt;br /&gt;
:*Some references need to be adjusted rather than just a web address.&lt;br /&gt;
&lt;br /&gt;
Group 3 Peer Review&lt;br /&gt;
&lt;br /&gt;
:*The first paragraph is not necessary, talk about Klinefelter’s specifically not about sex chromosomes. This can be discussed further in the webpage. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs and other formatting looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*Great historic information but could be integrated into the timeline instead of having large paragraphs and a timeline. &lt;br /&gt;
&lt;br /&gt;
:*Really liked “other similar disorders”. Great idea. &lt;br /&gt;
&lt;br /&gt;
:*Some references need to be fixed so there is not double ups in the reference list.&lt;br /&gt;
&lt;br /&gt;
Group 4 Peer Review&lt;br /&gt;
&lt;br /&gt;
:* History could be adapted into the timeline. Unnecessary for both.&lt;br /&gt;
&lt;br /&gt;
:*The table of medications in treatments is slightly hard to follow. Perhaps some use of bolding or different font sizes would make it easier to read. &lt;br /&gt;
&lt;br /&gt;
:* Great use of images. Make sure they are formatted correctly. In the Tetrabenezine section the image is large and cuts off one sentence which is then placed under the image which makes it look like a caption.&lt;br /&gt;
&lt;br /&gt;
:* Some references are missing entirely. Make sure the referencing is uniform. Review list and fix up double references. &lt;br /&gt;
&lt;br /&gt;
Group 5 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*The lone sentence at the beginning of the history is unnecessary. &lt;br /&gt;
&lt;br /&gt;
:*Essay language such as “for example” is a bit out of place on a wiki page. Tailor language to a web page. &lt;br /&gt;
&lt;br /&gt;
:*In the epidemiology section some statements are not referenced. Where are these ‘examples’ coming from? &lt;br /&gt;
&lt;br /&gt;
:*Research section would benefit from the bolding of paper headings or authors names. &lt;br /&gt;
&lt;br /&gt;
:*Glossary could be expanded, very minimal. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. &lt;br /&gt;
&lt;br /&gt;
Group 6 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*Introduction does not flow very well. Sentences are very choppy. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit from a timeline rather than paragraphs as it is a bit hard to follow. &lt;br /&gt;
&lt;br /&gt;
:*In the epidemiology and symptoms sections need some more content. Seems very minimal. Also images? &lt;br /&gt;
&lt;br /&gt;
:*Diagnostic section needs the rest of the information added to its table. “Insert text here”. Also use of bolding or different font sizes would benefit this table. &lt;br /&gt;
&lt;br /&gt;
:*Glossary could be expanded, very minimal. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. &lt;br /&gt;
&lt;br /&gt;
Group 7 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit by placing the information into the timeline rather than paragraphs as it is a bit hard to follow. &lt;br /&gt;
&lt;br /&gt;
:*In the epidemiology, aetiology and complications sections need some more content. Seems very minimal. The table in aetiology could be explained much better. &lt;br /&gt;
&lt;br /&gt;
:*Seems to be too many sections with only a small amount of content. These could be merged as some headings fit under a broader heading. This would make the page seem more content filled and give it a better flow. &lt;br /&gt;
&lt;br /&gt;
:*Glossary could be expanded. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. Double ups need to be fixed. &lt;br /&gt;
&lt;br /&gt;
Group 8 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit by placing the information into the timeline rather than paragraphs as it is a bit hard to follow. Could also be expanded. &lt;br /&gt;
&lt;br /&gt;
:*In the epidemiology section the subheadings do not present the information in the best way possible. It makes it look like there is a lack of research into this area. Perhaps combining into paragraphs, or adding more information to each subheading. &lt;br /&gt;
&lt;br /&gt;
:*The pathogenesis section needs some additional information. &lt;br /&gt;
&lt;br /&gt;
:*Further explanation of terms in the symptoms section is needed as the web page is aimed at those that may not have a clinical knowledge. &lt;br /&gt;
&lt;br /&gt;
:*Research could be summarised and papers talked about rather than just listing papers of current research. &lt;br /&gt;
&lt;br /&gt;
:*Glossary is extensive but would be more appropriate following the information on the page rather than after the references as it gets forgotten about. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. Double ups need to be fixed. &lt;br /&gt;
&lt;br /&gt;
Group 9 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit by placing the information into the timeline rather than paragraphs as it is a bit hard to follow. &lt;br /&gt;
&lt;br /&gt;
:*In the diagnosis section each of the hallmark symptoms could be further explained rather than just listed. &lt;br /&gt;
&lt;br /&gt;
:*The management steps could be explained rather than just listed. Not enough information in this section. Treatment is very choppy, should be written in paragraphs not sentences. &lt;br /&gt;
&lt;br /&gt;
:*Research could be summarised and papers talked about rather than just listing papers of current research or individuals that are researchers. &lt;br /&gt;
&lt;br /&gt;
:*Glossary needs to be finished. If you didn’t have time, should have gotten rid of terms. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. Several different styles of referencing used, just have one. &lt;br /&gt;
&lt;br /&gt;
Group 10 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit by placing the information into a timeline rather than paragraphs as it is a bit hard to follow. &lt;br /&gt;
&lt;br /&gt;
:*Epidemiology section could be expanded and written in more flowing way rather than long sentences. &lt;br /&gt;
&lt;br /&gt;
:*Needs more images, lots of large blocks of text. And images need to be formatted into the text as formatting currently looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*Further Research could be added, for example papers or groups that are researching as currently it is just being referred to. &lt;br /&gt;
&lt;br /&gt;
:*Glossary could be expanded. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. Double ups need to be fixed. Also perhaps research from MORE sources is necessary as there is only a few when you cut out the double references. &lt;br /&gt;
&lt;br /&gt;
Group 11 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement&lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit by placing the information into a timeline rather than paragraphs as it is a bit hard to follow. Having both a history section and a timeline section makes no sense. &lt;br /&gt;
&lt;br /&gt;
:*Syndromes and anomalies has sections where “text will be added soon”. Definitely needs more information.Symptoms need to be explained instead of just listed. &lt;br /&gt;
&lt;br /&gt;
:*Needs more images, lots of large blocks of text. And images need to be formatted into the text as formatting currently looks awkward. Text needs to be grammatically corrected and formatted into paragraphs. &lt;br /&gt;
&lt;br /&gt;
:*Further Research could be added, for example papers or groups that are researching as currently it is just being referred to. Listing the name of a paper isn’t discussing it. &lt;br /&gt;
&lt;br /&gt;
:*Glossary could be expanded. &lt;br /&gt;
&lt;br /&gt;
:*Where are the references? Where did you get this information from? Large blocks of text without references. References need to be fixed. There are many that are just a web address. Full citation is needed. Double ups need to be fixed. Links to pubmed could be good. Also perhaps research from MORE sources is necessary as there is only a few when you cut out the double references. &lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 7 ==&lt;br /&gt;
&lt;br /&gt;
1. Are satellite cells (a) necessary for muscle hypertrophy and (b) generally involved in hypertrophy? &lt;br /&gt;
&lt;br /&gt;
a)Satellite cells are not necessary for hypertrophy.&lt;br /&gt;
&lt;br /&gt;
b)They are generally involved in hypertrophy. &lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
2. Why does chronic low frequency stimulation cause a fast to slow fibre type shift? &lt;br /&gt;
&lt;br /&gt;
It causes the fast to slow fibre shift, as the fast fibres become adapt and become more like slow fibres in order to work more efficently with the low frequency stimulation.&lt;br /&gt;
&lt;br /&gt;
Peer Review&lt;br /&gt;
&lt;br /&gt;
*The linking of words to the glossary is good.&lt;br /&gt;
*Some pictures are formatted in a way that the page doesn't flow very well. &lt;br /&gt;
*Formatting is ok. Some areas where there is large empty spaces.&lt;br /&gt;
*Good amount of pictures and text.&lt;br /&gt;
*Informative content.&lt;br /&gt;
--[[User:Z3217043|z3217043]] 10:55, 22 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 6 ==&lt;br /&gt;
&lt;br /&gt;
1. The palatal shelves fuse in week 9.&lt;br /&gt;
&lt;br /&gt;
2. The chicken model was used.&lt;br /&gt;
&lt;br /&gt;
3. The abnormality is Tetralogy of Fallot.&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 5 ==&lt;br /&gt;
&lt;br /&gt;
The most common side is the left side. This is due to the mutation in the pulmonary development gene which causes diaphragmatic hernia. It causes hernia as the left pleural cavity is sealed off at a later stage of development. &lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 4 ==&lt;br /&gt;
&lt;br /&gt;
1. It is continuous with the bladder.&lt;br /&gt;
&lt;br /&gt;
2. Ductus venosus in the liver, Oval foramen between the atria and Ductus arteriosus from the left pulmonary artery to the dorsal aorta (6th arterial arch from the left). &lt;br /&gt;
&lt;br /&gt;
3. I will be doing the history and treatment of thalassemia.&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 10:31, 25 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 3 ==&lt;br /&gt;
&lt;br /&gt;
1. Folic Acid and Iodine&lt;br /&gt;
&lt;br /&gt;
2. [[File:Thalassemia_pic.jpg|200px|thumb|left|Miotic Cell Defects]] --[[User:Z3217043|z3217043]] 11:06, 18 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 2 ==&lt;br /&gt;
&lt;br /&gt;
1. Identify the ZP protein that spermatozoa binds and how is this changed (altered) after fertilisation. &lt;br /&gt;
&lt;br /&gt;
ZP3, it initiates the acrosome reaction, where acrosomal cortical granules are exocytosed from the egg. The granules modify the zona pellucida by making it unable to bind with further sperm and also hardened it.&lt;br /&gt;
&lt;br /&gt;
2. Review articles&lt;br /&gt;
&lt;br /&gt;
[http://www.ncbi.nlm.nih.gov.wwwproxy0.library.unsw.edu.au/pubmed/21806986 A rapid detection for α-thalassemia by PCR combined with dissociation curve analysis]&lt;br /&gt;
&lt;br /&gt;
[http://www.ncbi.nlm.nih.gov.wwwproxy0.library.unsw.edu.au/pubmed/21239835 Hematopoietic stem cell transplantation in thalassemia]&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 20:31, 10 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 1 ==&lt;br /&gt;
&lt;br /&gt;
1. Robert G Edwards&lt;br /&gt;
&lt;br /&gt;
2. B Klln, O Finnstrm, A Lindam, E Nilsson, K-G Nygren, P Otterblad Olausson Trends in delivery and neonatal outcome after in vitro fertilization in Sweden: data for 25 years. Hum. Reprod.: 2010, 25(4);1026-34 PMID:20139431 &lt;br /&gt;
&lt;br /&gt;
Paper discussing the decrease in unwanted outcomes in IVF in Sweden.&lt;br /&gt;
&lt;br /&gt;
3. Congenital Dislocated Hip and Cleft Palate&lt;br /&gt;
&lt;br /&gt;
--z3217043 20:58, 3 August 2011 (EST)&lt;/div&gt;</summary>
		<author><name>Z3217043</name></author>
	</entry>
	<entry>
		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=77727</id>
		<title>2011 Group Project 1</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=77727"/>
		<updated>2011-10-13T00:01:05Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: /* Introduction */&lt;/p&gt;
&lt;hr /&gt;
&lt;div&gt;{{2011ProjectsMH}}&lt;br /&gt;
----&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Turner Syndrome ==&lt;br /&gt;
&lt;br /&gt;
== Introduction ==&lt;br /&gt;
&lt;br /&gt;
[[File:Karyotype.jpg|250px|thumb|right|Figure 1: The arrow indicates the presence of only one X chromosome in Karyotype &amp;lt;ref name= &amp;quot;PMID20680156&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;20680156&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.]]&lt;br /&gt;
&lt;br /&gt;
Turner Syndrome (TS), named after Henry Hubert Turner who first described the syndrome in his paper in 1938,&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;4557013&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; is one of the most commonly occuring chromosomal disorders. It is caused by a complete or partial X [[#Glossary19 | '''monosomy''']] in some or all cells and occurs in approximately 1 in 2000 live births in females only. The morbidity rate of spontaneous abortions is 10% and only about 1% of fetuses survive to term. &lt;br /&gt;
&lt;br /&gt;
During normal fetal development, each ovary contain as many as 7 million oocytes. The oocytes gradually reduce to 400,000 during menarche, and during menopause fewer than 10,000 remain. However in TS, the ovaries develop normally during embryogenesis but the absence of the second X chromosome leads to an accelerated loss of oocytes, which is complete by the time the infant reaches 2 years of age. Genetically, menopause occurs before menarche and the ovaries are reduced to atrophic fibrous strands, devoid of ova and follicles (streak ovaries). Development of somatic (nongonadal) tissues that gentically resides on the missing or abnormal X chromosome are also severely affected. For example short stature is caused by a deletion of the Xp chromosome and the deletion of Xq causes gonadal dysfunction &amp;lt;ref&amp;gt;Pathologic Basis of Disease, 8th Ed. V. Kumar, R. Cotran &amp;amp; S Robbins (2007), Saunders &amp;amp; Co.&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The most frequent clinical features of TS are short stature and gonadal dysgenesis. Other features may include [[#Glossary4 | '''coarctation''']] of the aorta, renal anomalies, neck webbing and lymphoedema. People who have TS all vary in their clinical phenotype. In recent years there has been increased interest in TS due to the introduction of growth hormone treatment and there has been marked improvement in the understanding of this condition as advances in molecular genetic techniques occur. However, there is still need for further research as a multidisciplinary approach to treatment is vital in improving the quality of life of girls with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Epidemiology ==&lt;br /&gt;
&lt;br /&gt;
[[File:Stats abnormal.jpg|225px|thumb|left|Figure 2: The arrow indicates the presence of only one X chromosome in the karyotype &amp;lt;ref&amp;gt;www.ncbi.nlm.nih.gov/pmc/articles/PMC2910953/figure/F0002/&amp;lt;/ref&amp;gt;.]]&lt;br /&gt;
&lt;br /&gt;
TS affects about 1 in 2000 live-born females. There are three types of karyotypic abnormalities but the most frequently observed is the entire X chromosome deletion resulting in 45 X [[#Glossary17 | '''karyotype''']]. The remaining third have structural abnormalities of the X chromosomes and two thirds are mosaics, whereby, the maternal X is retained in two-thirds of women and the paternal X in the remainder.&lt;br /&gt;
&lt;br /&gt;
The phenotype of TS varies but involves anomalies of the sex chromosome. It could be caused by the limited amount of genetic material in these abnormal chromosomes. TS can be transmitted from mother to daughter, and thus could be described as a heredity linked syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The loss of one of the sex chromosomes in TS, occurs after the zygote has formed or just after the fusion of the [[#Glossary10 | '''gametes''']]. In 70-80% of cases the retained X chromosome is inherited from the mother. In such circumstances it has led to the different phenotypic expression of the genes present on the X chromosome depending if inherited from the maternally or paternally. The morphological differences from those retaining the maternal, compared to retaining the paternal X chromosome, have shown to have a greater incidence of cardiovascular anomalies and neck webbing. &lt;br /&gt;
&lt;br /&gt;
The missing sex chromosome could be either an X or a Y. This has clinical implications because if the Y material is present there is a risk of up to 30% of [[#Glossary11 | '''gonadoblastoma''']] developing in the dysgenetic gonads. This is because the 'gonadoblastoma locus' is located on the Y chromosome which is situated just below the centromere.&lt;br /&gt;
The inactivation of the abnormal X chromosomes is another cause that primarily affects hypogonadism phenotypically in females.  &amp;lt;ref&amp;gt;Wade, Nicholas (2009-09-15). '''&amp;quot;New Clues to Sex Anomalies in How Y Chromosomes Are Copied&amp;quot;'''. The New York Times. Retrieved 2010-05-26. http://www.nytimes.com/2009/09/15/science/15chrom.html?pagewanted=1&amp;amp;_r=1&amp;amp;hpw&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Etiology ==&lt;br /&gt;
[[File:nondisjunction.jpg|1000px|thumb|right|alt text|Figure 3: This figure shows the progeny created from normal disjunction (A), and non-disjunction during both Meiosis I (B) and Meiosis II (C).]]&lt;br /&gt;
&lt;br /&gt;
Causation of TS can be traced back to the stages of sex-cell development.  When sex cells divide through a process called [[#Glossary18 | '''meiosis''']] to create gametes, either a [[#Glossary12 | '''haploid''']] egg (for females) or sperm (for males) two divisions occur, Meiosis I and Meiosis II.  Meiosis is the main process which helps create the vast genetic diversity within all populations by allowing [[#Glossary25 | '''recombination''']] and [[#Glossary24 | '''random assortment''']].  During Meiosis I [[#Glossary14 | '''homologous chromosomes''']] are separated; following Meiosis I, [[#Glossary27 | '''sister chromatids''']] separate during Meiosis II.  If during either stage of Meiosis I or II the homologous chromosomes or sister chromatids, respectively, do not fully separate, a phenomenon can occur called [[#Glossary21 | '''nondisjunction''']].  Nondisjunction causes an uneven distribution of genetic material to each daughter nuclei.  When an uneven distribution is such that one of the gametes does not have any of a chromosome, it can combine with another normal gamete to create a fertilized egg with only one chromosome as opposed to the normal two that are found in human cells; this is called a monosomy.  When this occurs in the sex chromosomes leaving only a single X chromosome (X0 genotype) TS is created, leaving only 45 chromosomes in the zygote rather than the normal 46.  &lt;br /&gt;
&lt;br /&gt;
[[File:22+23=45.jpg|400px|thumb|right|Figure 4: 22 chromosomal egg + 23 chromosomal sperm = 45 chromsomes in zygote instead of normal 46.]]&lt;br /&gt;
&lt;br /&gt;
TS can also be created by partial monosomy or disjunctions, meaning that although a whole X chromosome is not missing, portions of it are not present or are non-functional, rendering the chromosome useless.  Any disjunction seems to be completely sporadic and have yet to be attributed to any genetic link. The only thing known for sure is that during conception a portion of or the whole second sex chromosome is not conveyed to the zygote.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;7763055&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; Because at least one X chromosome is necessary for vital functions, this condition can only be found in females.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Clinical Manifestations ==&lt;br /&gt;
&lt;br /&gt;
The following are a list of characteristics and diseases which tend to accompany, be caused by, or be related to TS.  &lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| &lt;br /&gt;
| '''Clinical Manifestations'''&lt;br /&gt;
| '''Related Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Physical Attributes'''&lt;br /&gt;
|&lt;br /&gt;
*congenital malformations (heart, urinary system, face, neck, ears) &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*gonadal dysgenesis (causes oestrogen deficiencies, which can cause infertility) &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*increased risk of fractures &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16624607&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low cortical bone mineral density (BMD) &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;/&amp;gt;&lt;br /&gt;
*middle ear infections &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*premature ovarian failure &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*short/reduced stature &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*webbed neck &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;17562588&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Webbed Neck.jpg|none|thumb|250px|Figure 5: An example of neck webbing.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Prone to Develop Autoimmune Conditions'''&lt;br /&gt;
|&lt;br /&gt;
*alopecia areata &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coeliac disease (CD) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12466343&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*psoriasis &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;/&amp;gt;&lt;br /&gt;
*thyroiditis &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*type 1 diabetes &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
|[[File:Psoriasis.jpg|none|thumb|250px|Figure 6: An example of a patient with psoriasis on their arm.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Decreased Cognition'''&lt;br /&gt;
|&lt;br /&gt;
*emotion processing difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;20014362&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*increased impulsivity &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;19750135&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low IQ score &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
*nonverbal learning disability (slow math calculations)&amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*social cognition difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*visuoperception/visuoconstruction deficit (identifying and locating is difficult due to poor visual working memory) &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Increased Risk of'''&lt;br /&gt;
|&lt;br /&gt;
*cirrhosis of the liver &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*colon and rectal cancers &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*hypothyroidism &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*inflammatory bowel disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
*morbidity and mortality &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*neurovascular disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*osteoporosis &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*ovarian failure &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*renal and gastrointestinal disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Cardiac Abnormalities''' (most serious/life threatening medical problems created by TS)&lt;br /&gt;
|&lt;br /&gt;
*absence of portal vein &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16612647&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*aortic dilatation and dissection  &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*arrhythmias &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;17015510&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*arteriosclerosis &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*biscuspid aortic valves &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*coarctation of the aorta &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*hypertension &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*ischemic heart disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*prolapsed mitral valve &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
== Diagnostic Procedures ==&lt;br /&gt;
&lt;br /&gt;
===Diagnostic Definition===&lt;br /&gt;
&lt;br /&gt;
[[File:Turner Syndrome X Chromosome Variations.jpg|thumb|right|Figure 7: Variations of the Second X Chromosome in Turner Syndrome]]&lt;br /&gt;
TS is diagnosed through both an evaluation of physical features and by analysis of the second sex chromosome. The two criteria must be met for classification of TS, an abnormality in the second sex chromosome must be found and the abnormality must be found to be expressed somehow in the individual's traits. Hence if physical characteristics are not present even when the cytogenetic criterion is met the patient is not diagnosed as having TS.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; In TS the second sex chromosome is either:&lt;br /&gt;
&lt;br /&gt;
*Completely absent (45,X)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Partially absent&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
*Forms an isochromosome (isoXq), possessing a long arm duplication (q) and being devoid of a short arm (p)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*In a ring formation (rX)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
*Is devoid of the homeobox gene, [[#Glossary26 | '''SHOX''']] (short stature homeobox), the deletion being prior to the junction between Xp22.2 and Xp22.3&amp;lt;ref name=&amp;quot;PMID21325865&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
Any of these variations of the second sex chromosome may occur with or without cell line [[#Glossary20 | '''mosaicism''']].&lt;br /&gt;
TS may be diagnosed prenatally or postnatally, using this genetic diagnostic definition coupled with an appropriate phenotypic evaluation of the individual, as outlined below.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Prenatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
The prenatal diagnostic tool for TS is karyotype screening and testing for phenotype abnormalities. If TS is diagnosed prenatally, karyotype screening and an evaluation of the individual's traits should be conducted again postnatally for confirmation of this diagnosis. TS is frequently diagnosed after karyotype screening during [[#Glossary5 | '''chorionic villous sampling''']] or [[#Glossary2 | '''amniocentesis''']].&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
The table below outlines various prenatal tests conducted and the indications that may be present in babies with TS. Although these techniques and the indications they reveal may highlight TS signs, they should not be used as sole diagnostic tools.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Technique'''&lt;br /&gt;
| '''Turner syndrome indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Ultrasound'''&lt;br /&gt;
|&lt;br /&gt;
*Increased nuchal translucency &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary6 | '''Cystic hygroma''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Coarctation of the aorta &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Left-sided cardiac defects &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary3 | '''Brachycephaly''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Renal anomalies &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary23 | '''Polyhydramnios''']] &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary22 | '''Oligohydramnios''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Growth retardation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;10599686&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Turner Syndrome Test Showing Nuchal Translucency.gif|none|thumb|400px|Figure 8: Ultrasound Test Showing Nuchal Translucency.]]&lt;br /&gt;
[[File:Turner Syndrome Test Showing Cystic Hygroma.gif|none|thumb|400px|Figure 9: Ultrasound Test Showing Cystic Hygroma.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Maternal serum screening'''&lt;br /&gt;
|&lt;br /&gt;
*Abnormal [[#Glossary1 | '''α-fetoprotein''']] levels &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary16 | '''inhibin A''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary13 | '''hCG''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal unconjugated [[#Glossary9 | '''estriol''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
|[[File: TurnerSyndromeMaternalSerumSampling.jpg|none|thumb|400px|Figure 10: Maternal Serum Sampling.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Postnatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
In postnatal diagnosis, karyotype investigation is undertaken for the individual. When a female presents with the following clinical findings, explained in table below, it is recommended that chromosomal analysis is undertaken, so that TS may be eliminated&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;:&lt;br /&gt;
{|sstyle= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Age'''&lt;br /&gt;
| '''Phenotypic manifestations/indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Baby/infant'''&lt;br /&gt;
|&lt;br /&gt;
*Oedema of the hands or feet &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Nuchal folds &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Cardiac abnormalities for example aortic dilation, bicuspid aortic valve and aortic coarctation &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Low hairline &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Low set ears &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Small mandible &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Gonadal dysgenesis &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
|&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Child'''&lt;br /&gt;
| &lt;br /&gt;
*Short stature with low growth velocity &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Turned in elbows &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Nail [[#Glossary15 | '''hypoplasia''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Hyperconvex uplifted nails &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Multiple pigmented benign birthmarks/moles &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Characteristic faecies &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Short fourth metacarpal &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*High arched palate &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Extensive and chronic inflammation/infection of the ear &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Hearing loss &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 4 year old child.jpg|left|thumb|150px|Figure 11: Four-year-old girl with Turner syndrome. Note somewhat broad chest, prominent ears and ptosis, but otherwise normal proportion. There is no pronounced neck webbing or edema.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Adolescent/Adult'''&lt;br /&gt;
|&lt;br /&gt;
*Absence of breast development by 13 yr of age &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Pubertal arrest &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Primary or secondary amenorrhoea&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Unexplained short stature &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Renal abnormalities &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Immune disorders &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 35 year old woman.jpg|none|thumb|150px|Figure 12: A Thirty-five-year-old woman with Turner syndrome. Note increased carrying angle of arms, broad flat chest and sexual infantilism, but the lack of pronounced neck webbing or peripheral edema.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Since an absence of the physical signs of puberty and/or growth failure are often seen as normal variations in the population, these possible indications/symptoms of TS may not be further investigated by many clinicians.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20361125&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; When karyotyping in order to exclude natural cell variation, a sufficient number of cells should be assessed. Whilst a sample of blood will often reveal TS, an evaluation of a second tissue sample like the skin is recommend.&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
[[#Glossary7 | '''DNA hybridisation''']] or fluorescent in situ hybridisation should be conducted using a Y centromeric or short arm probe to detect for any additional Y or X chromosomal material.&lt;br /&gt;
If there is any of the Y chromosome present, this may initiate gonadoblastoma development, another primary indicator of TS. Hence the individual should have both a vaginal [[#Glossary28 | '''ultrasonograph''']] and colour [[#Glossary8 | '''Doppler sonograph''']] of their gonads to detect whether any Y chromosome fragments are present. These tests should be repeated regularly to monitor the patient for any malignancy, if a gonadectomy is not undertaken.&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Treatment ==&lt;br /&gt;
&lt;br /&gt;
=== Cardiac Treatment ===&lt;br /&gt;
&lt;br /&gt;
When patients are confirmed with TS, it is necessary to have a full cardiac evaulation including a physical exam and a echocardiogram. If cardiac abnormalities are found, monitoring by a cardiologist is recommended including regular blood pressure checks &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.   If no abnormalities are found, blood pressure in TS patients is still routinely checked and a follow up cardiac evaulation is recommended for girls around the age of puberty (12-15) &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. Coarctation of the aorta and hypoplastic left heart are quite often very serious issues which present in infancy&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt; which need to be dealt with surgically &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;. Aortic valves which are bicuspid rather than tricuspid are monitored regularly to ensure complications are found before they seriously effect the health of the patient. &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
=== Renal care ===&lt;br /&gt;
&lt;br /&gt;
Renal anomalies such as posteriorly rotated or horseshoe kidneys are assessed via an ultrasound to determine if any further treatment such as surgery or drug treatment is needed. This renal ultrasound is repeated again at the time the patient is handed over from the pediatic doctor to the adult specialist. &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
=== Liver function ===&lt;br /&gt;
&lt;br /&gt;
As abnormal liver function is highly prevelant in the TS community, liver function tests are performed when regular blood tests are performed. This is particularlly important test at the begining of puberty and when patients are transfered from their pediatrican to adult specialist to pick up any changes in liver enzymes, as raised levels may indicate the onset of cirrhosis of the liver&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
=== Speech and Feeding difficulties ===&lt;br /&gt;
Many TS patients have trouble with their speech. It is necessary for them to be refered to an Ear, Nose and Throat (ENT) specialist and to a speech therapist to work on improve any speech problems &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  TS infants also often suffer from feeding difficulties due to dysfunctional tongue movemnts, poor chewing skills and a highly arched palate. The ENT specialist and speech therapist may be able to help with improving chewing skills and settling down any difficulties &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Management of Puberty and Growth ===&lt;br /&gt;
&lt;br /&gt;
The main treatment for growth and pubertal development is Hormone Replacement Therapy. Growth Hormone is administered to girls with abnormal growth, resulting in postive growth that is consistent with the expected height of the patient. It is administered as early as 2 years of age, but more often in the age group of 9-12 which is in line with the growth spurt that occurs during puberty &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  &lt;br /&gt;
&lt;br /&gt;
Natural oestrogen and progesterone are administered to girls when they reach the age of puberty in early adolescence. The age at which this treatment commences varies between individuals, as does the dosage. The administration of oestrogen will begin the process of puberty in girls affected by TS and it is important that this begins around the same time as her peers &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;.The use of oestrogen is often held off if the patient is also undergoing GH treatment so that maximum growth can be achieved, as oestrogen will induce the fusion of the epiphyses and limit longitudinal bone growth &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  Around 10% of nonmosaic and 20% of mosaic women with TS will have spontaneous menses (periods) and may not need to undergo Hormone Replacement to initiate puberty. Around 2-5% of these women will have the potential to fall pregnant naturally &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
=== Appearance === &lt;br /&gt;
&lt;br /&gt;
Extreme neck webbing maybe worrying or uncomfortable to women with TS and in some cases plastic surgery such as Z-Plasty is undertaken to fix this problem. Surgery can however, leave scars which may further trouble patients and often advice is given to wear their hair long&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Foot problems are common in young girls with TS with short broad feet making it hard to buy and wear convential shoes&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;.Also if convex growth of toenails occurs, surgery is conducted so that the woman can wear normal shoes &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;. Referal to a podiatrist is necessary for correct up to date advice on foot care and for shoe fittings&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Ongoing Adult Treatment ===&lt;br /&gt;
&lt;br /&gt;
Closely monitoring the health of TS adults is vital in the reduction of morbidity and mortality. An annual physical evalution should be undertaken which includes, blood pressure, heart auscultation, thyroid function, breast exam, and pap smear&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. Particular attention needs to be taken in the area of weight and obesity in TS women due to their high risk of developing diabetes, osteoporosis and hypertension. Patients are to be encouraged to have a healthy lifestyle including healthy eating and exercise&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. Many TS women will need to undergo fertility treatment and in many cases need the assistance of an egg donation to fall pregnant. Counselling throughout this process is recommended as is the referal to a reproductive specialist with the patient feels ready to start a family &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Research ==&lt;br /&gt;
&lt;br /&gt;
===Current research===&lt;br /&gt;
&lt;br /&gt;
Since there is no preventative or cure, currently mainly research is being conducted into the areas of symptoms, possible treatments and risks involved with TS.&lt;br /&gt;
&lt;br /&gt;
'''Growth hormone therapy in Turner syndrome: its affect on height, weight and stature.'''&lt;br /&gt;
*'''Growth hormone effect on body composition in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21720878&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research findings from this paper conclude that people with TS have lower height, higher BMI and higher proportional sitting height and leg length than that of the normal population, no matter whether they undergo hormone replacement therapy or not.&lt;br /&gt;
*'''Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21619701&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study has concluded that all adults with TS had a similar quality of life regardless of whether they have a higher stature due to undergoing growth hormone replacement therapy or not. It was hypothesised that height differences did not affect quality of life as the individuals seemed to adapt to their own life challenges.&lt;br /&gt;
*'''Growth hormone treatment for Turner syndrome in Australia reveals that younger age and increased dose interact to improve response.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21375553&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research from this study found that growth hormone therapy works most optimally if given earlier in life and at a high dose in the first year of treatment.&lt;br /&gt;
*'''Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21398400&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: Another study which confers that the early introduction of growth hormone therapy is most efficacious. However the individual's glucose metabolism should be monitored as the hormones may affect glucose tolerance transiently.&lt;br /&gt;
&lt;br /&gt;
'''Oestrogen hormone replacement therapy in Turner syndrome: the adequate dosage and its effect on uterine development, breast development, bone mineral density and sexual characteristics.'''&lt;br /&gt;
*'''Growth hormone plus childhood low-dose oestrogen in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21449786&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study indicates that undergoing both growth hormone and oestrogen therapy together may help increase the efficacy of each (increasing growth in height and pubertal development) more than when they act alone. &lt;br /&gt;
*'''Oestrogen requirements in girls with Turner syndrome; how low is enough for initiating puberty and uterine development?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21793702&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study assessed the minimal dosage of oestrogen that is required to bring about desired pubertal development in girls with TS.&lt;br /&gt;
*'''Puberty induction in Turner syndrome: results of oestrogen treatment on development of secondary sexual characteristics, uterine dimensions and serum hormone levels.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19200215&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: It was found that uterus of women with TS who had undergone oestrogen was underdeveloped, however the exact cause of this needs to be further researched.&lt;br /&gt;
&lt;br /&gt;
'''Pregnancy and Turner syndrome: evaluation and treatment of risks involved with pregnancy for: the mothers of Turner syndrome babies, for individuals with Turner syndrome and for the babies of individuals with Turner syndrome.'''&lt;br /&gt;
*'''Familial occurrence of Turner syndrome: casual event or increased risk?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21648298&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research examined whether there is a higher probability of having a second child with Turner syndrome and concluded that there is evidence in the small cohort that they used of a greater probability. It is suggested that a larger study be conducted to look further into these findings.that &lt;br /&gt;
*'''Obstetric Outcomes in Women with Turner Karyotype.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21865365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: In this study it was found that women with TS had shorter pregnancies than that of a control group, but no other marked difference was observed between the groups.&lt;br /&gt;
*'''Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21496813&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This paper examined a number of pregnant women with TS, some who incidentally went through puberty even though they had no hormone replacement therapy and another group that had undertaken hormone replacement therapy. Though there were not many complications in either group, the groups were small in number and one mother did have cardiovascular difficulties later on in life. Hence a thorough examination of pregnant TS women should be conducted prior to conception.&lt;br /&gt;
*'''Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20923275&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This article assessed the prognosis of pregnant women with TS. They concluded that spontaneous pregnancy increases the risk of the baby having phenotypic and chromosomal abnormalities compared with women having assisted reproductive therapies.&lt;br /&gt;
&lt;br /&gt;
===Future research=== &lt;br /&gt;
&lt;br /&gt;
Future research needs to be conducted in the following areas: to follow up on the suggestions given in the conclusions of current research papers as outlined in the prior section and also into how the care system is functioning for TS individuals as outlined below.&lt;br /&gt;
&lt;br /&gt;
*'''Medical Care of Girls with Turner Syndrome: Where are we Lacking?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21454226&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research found that a large proportion (&amp;gt;50%) of people with TS are not given adequate information upon diagnosis or screenings for complications and symptoms. Therefore it is suggested in order to rectify this issue that more education should be given to physicians on the syndrome&lt;br /&gt;
*'''Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21752892&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; and '''Turner's syndrome requires multidisciplinary approach.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19514616&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: These article evaluate the need for a multidisciplinary approach to treatment of TS. Since the symptoms can be wide ranging and severe, it is difficult but necessary for all of them to be examined in each individual. Hence a greater care plan for individuals should be implemented upon diagnosis.&lt;br /&gt;
&lt;br /&gt;
== Related Pages ==&lt;br /&gt;
&lt;br /&gt;
*[[Genital System - Abnormalities]] : Other genital abnormalities are described here, which may assist in a differential diagnosis of TS.&lt;br /&gt;
&lt;br /&gt;
*[[X Chromosome]] : A more in depth description of the structure and role of the X chromosome.&lt;br /&gt;
&lt;br /&gt;
*[[Cell Division - Meiosis]] &amp;amp; [[Oocyte Development]]  : Examination of the process of meiosis and the developing oocyte, will assist in the comprehension of why and how there is and abnormality or absence of the X chromosome.&lt;br /&gt;
&lt;br /&gt;
*[[Menstrual Cycle]] : An abnormal menstrual cycle can often be an indicator of TS, hence this information on the normal menstrual pattern is helpful in understanding more about the symptoms and diagnosis of TS.&lt;br /&gt;
&lt;br /&gt;
== Glossary ==&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary1&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Alpha-fetoprotein''' is a protein with an unknown function. It makes up, up to one third of the protein serum levels found in the second trimester of pregnancy and in neural tube defects, these alpha-fetoprotein levels are elevated. &amp;lt;ref name=&amp;quot;McPherson&amp;quot;&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary2&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Amniocentesis''' is a prenatal diagnostic tool. The procedure involves the sampling of amniotic fluid from the amniotic sac using a syringe, that is then tested for a number of abnormalities. &amp;lt;ref name=&amp;quot;Moore&amp;quot;&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary3&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Brachycephaly''' is a condition where the coronal suture of the skull fuses prematurely. Since the skull is unable to expand any further in the anterior-posterior directions due to this closure, it grows to an abnormal size in in the lateral dimension.&amp;lt;ref&amp;gt;Flint, P 2010, ''Flint: Cummings Otolaryngology: Head &amp;amp; Neck Surgery, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-323-05283-2..00186-5--s0045&amp;amp;isbn=978-0-323-05283-2&amp;amp;uniqId=282726024-5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary4&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Coarctation''' of the aorta is an abnormality where the aorta is constricted at one or various sections. This can be caused by genetic and/or environmental factors.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary5&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Chorionic villous sampling''' is a prenatal diagnostic tool which can be used from 7 weeks after fertilisation. It is used to test for a number of chromosomal abnormalities including X-linked and metabolic disorders.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary6&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Cystic hygroma''' is a prenatal abnormality where fluid builds up in the posterior portion of the neck. The body may or may not relieve itself naturally of this accumulation of fluid after birth. &amp;lt;ref&amp;gt;Gabbe, S 2007, ''Gabbe: Obstetrics: Normal and Problem Pregnancies, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-443-06930-7..50011-6--cesec51&amp;amp;isbn=978-0-443-06930-7&amp;amp;uniqId=282726024-10&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary7&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''DNA-DNA hybridisation''' is a technique used to compare the similarities and differences between two sets of genes.&amp;lt;ref&amp;gt;Long, S 2009, ''Bradley: Neurology in Clinical Practice, 5th ed.Long: Principles and Practice of Pediatric Infectious Diseases Revised Reprint, 3rd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X&amp;amp;isbn=978-0-7020-3468-8&amp;amp;uniqId=282726024-19#4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary8&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Doppler sonography''' uses the doppler effect to help image and measure blood flow pattern in the patient.&amp;lt;ref name=&amp;quot;Bradley&amp;quot;&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary9&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Estriol''' is a hormone that is produced in greater amounts during pregnancy especially in the second and third trimester. One of its main functions is to assist with blood flow in the placenta and uterus.&amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary10&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Gametes''' are reproductive (sex) cells (ie: eggs and sperm) that can unite to form a new cell called a zygote. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6&amp;amp;isbn=978-0-443-06811-9&amp;amp;uniqId=283289096-4#4-u1.0-B978-0-443-06811-9..10001-6--b0020&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary11&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Gonadoblastoma''' is an abnormal proliferation of gonadal cells, that may or may not be malignant.&amp;lt;ref name=&amp;quot;Wein&amp;quot;&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary12&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Haploid''' is the status of a cell having only a single set of unpaired chromosomes, or half the number of chromosomes contained in typical body cells. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary13&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''hCG''' is the abbreviation for human chorionic gonadotropin. It is a hormone that functions in the early stage of pregnancy to maintain the blood supply to the corpus luteum.&amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary14&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Homologous chromosomes''' are pairs of chromosomes, one each obtained from maternal and paternal gametes.  46 total chromosome complements are within an organism, 22 pairs of which are homologous chromosomes (called autosomes); the other 2 chromosomes are the sex chromosomes. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary15&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Hypoplasia''' is when an organ or tissue is not completely developed.&amp;lt;ref name=&amp;quot;Wein&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary16&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Inhibin A''' is a peptide produced by the ovaries and acts to restrain the production of follicle-stimulating hormone.&amp;lt;ref&amp;gt;Melmed, S 2011, ''Melmed: Williams Textbook of Endocrinology, 12th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0324-5..00045-6&amp;amp;isbn=978-1-4377-0324-5&amp;amp;uniqId=282726024-25 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary17&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Karyotype''' is an individual's set of chromosomes, both their number and appearance.&amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary18&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Meiosis''' is the specific process of cell division within sex cells which halves the number of chromosomes in the cells through via two cell divisions; this is specific to germ cells only, creating haploid gametes (sex cells) from diploid cells. &amp;lt;ref name=&amp;quot;Moore2&amp;quot;&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary19&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Monosomy''' is a condition wherein a specific chromosome is completely missing within one gamete that combines with a normal gamete to form a zygote; a chromosome has no homologue, or matching chromosome, to pair with. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary20&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Mosaicism''' is when a particular type or all cells of an individual do not have the same genetic makeup. This is caused by a mutation during embryonic cell division.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary21&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Nondisjunction''' is the failure of chromosome pairs to separate entirely during either stage of Meiosis. &amp;lt;ref name=&amp;quot;Moore2&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary22&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Oligohydramnios''' is a prenatal condition, where there is an insufficient amount of amniotic fluid.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary23&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Polyhydramnios''' is a prenatal condition, where there is an excessive amount of amniotic fluid.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary24&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Random assortment''' is the idea first proposed by Gregor Mendel which states that pairs of alleles independently separate during the formation of gametes. &amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;   &lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary25&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Recombination''' is the process which by genetic material is crossed over and switched between two segments of DNA which adds to the genetic diversity of the genome.&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary26&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''SHOX gene''' is the short stature homeobox gene, that when deficient frequently results in short stature.&amp;lt;ref name=&amp;quot;PMID21325865&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary27&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Sister chromatids''' are 2 identical copies of a chromatin that are connected at a position in their center called a centromere. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;     &lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary28&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Ultrasonography''' is a medical technique that employs ultrasound frequencies to visualise a patient's internal bodily structure.&amp;lt;ref name=&amp;quot;Bradley&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== References ==&lt;br /&gt;
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&amp;lt;references/&amp;gt;&lt;br /&gt;
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{{2011Projects}}&lt;/div&gt;</summary>
		<author><name>Z3217043</name></author>
	</entry>
	<entry>
		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=77719</id>
		<title>2011 Group Project 1</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=77719"/>
		<updated>2011-10-12T23:58:14Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: /* Introduction */&lt;/p&gt;
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== Turner Syndrome ==&lt;br /&gt;
&lt;br /&gt;
== Introduction ==&lt;br /&gt;
&lt;br /&gt;
[[File:Karyotype.jpg|250px|thumb|right|Figure 1: The arrow indicates the presence of only one X chromosome in Karyotype &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20680156&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.]]&lt;br /&gt;
&lt;br /&gt;
Turner Syndrome (TS), named after Henry Hubert Turner who first described the syndrome in his paper in 1938,&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;4557013&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; is one of the most commonly occuring chromosomal disorders. It is caused by a complete or partial X [[#Glossary19 | '''monosomy''']] in some or all cells and occurs in approximately 1 in 2000 live births in females only. The morbidity rate of spontaneous abortions is 10% and only about 1% of fetuses survive to term. &lt;br /&gt;
&lt;br /&gt;
During normal fetal development, each ovary contain as many as 7 million oocytes. The oocytes gradually reduce to 400,000 during menarche, and during menopause fewer than 10,000 remain. However in TS, the ovaries develop normally during embryogenesis but the absence of the second X chromosome leads to an accelerated loss of oocytes, which is complete by the time the infant reaches 2 years of age. Genetically, menopause occurs before menarche and the ovaries are reduced to atrophic fibrous strands, devoid of ova and follicles (streak ovaries). Development of somatic (nongonadal) tissues that gentically resides on the missing or abnormal X chromosome are also severely affected. For example short stature is caused by a deletion of the Xp chromosome and the deletion of Xq causes gonadal dysfunction &amp;lt;ref&amp;gt;Pathologic Basis of Disease, 8th Ed. V. Kumar, R. Cotran &amp;amp; S Robbins (2007), Saunders &amp;amp; Co.&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The most frequent clinical features of TS are short stature and gonadal dysgenesis. Other features may include [[#Glossary4 | '''coarctation''']] of the aorta, renal anomalies, neck webbing and lymphoedema. People who have TS all vary in their clinical phenotype. In recent years there has been increased interest in TS due to the introduction of growth hormone treatment and there has been marked improvement in the understanding of this condition as advances in molecular genetic techniques occur. However, there is still need for further research as a multidisciplinary approach to treatment is vital in improving the quality of life of girls with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Epidemiology ==&lt;br /&gt;
&lt;br /&gt;
[[File:Stats abnormal.jpg|225px|thumb|left|Figure 2: The arrow indicates the presence of only one X chromosome in the karyotype &amp;lt;ref&amp;gt;www.ncbi.nlm.nih.gov/pmc/articles/PMC2910953/figure/F0002/&amp;lt;/ref&amp;gt;.]]&lt;br /&gt;
&lt;br /&gt;
TS affects about 1 in 2000 live-born females. There are three types of karyotypic abnormalities but the most frequently observed is the entire X chromosome deletion resulting in 45 X [[#Glossary17 | '''karyotype''']]. The remaining third have structural abnormalities of the X chromosomes and two thirds are mosaics, whereby, the maternal X is retained in two-thirds of women and the paternal X in the remainder.&lt;br /&gt;
&lt;br /&gt;
The phenotype of TS varies but involves anomalies of the sex chromosome. It could be caused by the limited amount of genetic material in these abnormal chromosomes. TS can be transmitted from mother to daughter, and thus could be described as a heredity linked syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The loss of one of the sex chromosomes in TS, occurs after the zygote has formed or just after the fusion of the [[#Glossary10 | '''gametes''']]. In 70-80% of cases the retained X chromosome is inherited from the mother. In such circumstances it has led to the different phenotypic expression of the genes present on the X chromosome depending if inherited from the maternally or paternally. The morphological differences from those retaining the maternal, compared to retaining the paternal X chromosome, have shown to have a greater incidence of cardiovascular anomalies and neck webbing. &lt;br /&gt;
&lt;br /&gt;
The missing sex chromosome could be either an X or a Y. This has clinical implications because if the Y material is present there is a risk of up to 30% of [[#Glossary11 | '''gonadoblastoma''']] developing in the dysgenetic gonads. This is because the 'gonadoblastoma locus' is located on the Y chromosome which is situated just below the centromere.&lt;br /&gt;
The inactivation of the abnormal X chromosomes is another cause that primarily affects hypogonadism phenotypically in females.  &amp;lt;ref&amp;gt;Wade, Nicholas (2009-09-15). '''&amp;quot;New Clues to Sex Anomalies in How Y Chromosomes Are Copied&amp;quot;'''. The New York Times. Retrieved 2010-05-26. http://www.nytimes.com/2009/09/15/science/15chrom.html?pagewanted=1&amp;amp;_r=1&amp;amp;hpw&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Etiology ==&lt;br /&gt;
[[File:nondisjunction.jpg|1000px|thumb|right|alt text|Figure 3: This figure shows the progeny created from normal disjunction (A), and non-disjunction during both Meiosis I (B) and Meiosis II (C).]]&lt;br /&gt;
&lt;br /&gt;
Causation of TS can be traced back to the stages of sex-cell development.  When sex cells divide through a process called [[#Glossary18 | '''meiosis''']] to create gametes, either a [[#Glossary12 | '''haploid''']] egg (for females) or sperm (for males) two divisions occur, Meiosis I and Meiosis II.  Meiosis is the main process which helps create the vast genetic diversity within all populations by allowing [[#Glossary25 | '''recombination''']] and [[#Glossary24 | '''random assortment''']].  During Meiosis I [[#Glossary14 | '''homologous chromosomes''']] are separated; following Meiosis I, [[#Glossary27 | '''sister chromatids''']] separate during Meiosis II.  If during either stage of Meiosis I or II the homologous chromosomes or sister chromatids, respectively, do not fully separate, a phenomenon can occur called [[#Glossary21 | '''nondisjunction''']].  Nondisjunction causes an uneven distribution of genetic material to each daughter nuclei.  When an uneven distribution is such that one of the gametes does not have any of a chromosome, it can combine with another normal gamete to create a fertilized egg with only one chromosome as opposed to the normal two that are found in human cells; this is called a monosomy.  When this occurs in the sex chromosomes leaving only a single X chromosome (X0 genotype) TS is created, leaving only 45 chromosomes in the zygote rather than the normal 46.  &lt;br /&gt;
&lt;br /&gt;
[[File:22+23=45.jpg|400px|thumb|right|Figure 4: 22 chromosomal egg + 23 chromosomal sperm = 45 chromsomes in zygote instead of normal 46.]]&lt;br /&gt;
&lt;br /&gt;
TS can also be created by partial monosomy or disjunctions, meaning that although a whole X chromosome is not missing, portions of it are not present or are non-functional, rendering the chromosome useless.  Any disjunction seems to be completely sporadic and have yet to be attributed to any genetic link. The only thing known for sure is that during conception a portion of or the whole second sex chromosome is not conveyed to the zygote.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;7763055&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; Because at least one X chromosome is necessary for vital functions, this condition can only be found in females.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Clinical Manifestations ==&lt;br /&gt;
&lt;br /&gt;
The following are a list of characteristics and diseases which tend to accompany, be caused by, or be related to TS.  &lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| &lt;br /&gt;
| '''Clinical Manifestations'''&lt;br /&gt;
| '''Related Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Physical Attributes'''&lt;br /&gt;
|&lt;br /&gt;
*congenital malformations (heart, urinary system, face, neck, ears) &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*gonadal dysgenesis (causes oestrogen deficiencies, which can cause infertility) &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*increased risk of fractures &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16624607&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low cortical bone mineral density (BMD) &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;/&amp;gt;&lt;br /&gt;
*middle ear infections &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*premature ovarian failure &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*short/reduced stature &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*webbed neck &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;17562588&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Webbed Neck.jpg|none|thumb|250px|Figure 5: An example of neck webbing.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Prone to Develop Autoimmune Conditions'''&lt;br /&gt;
|&lt;br /&gt;
*alopecia areata &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coeliac disease (CD) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12466343&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*psoriasis &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;/&amp;gt;&lt;br /&gt;
*thyroiditis &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*type 1 diabetes &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
|[[File:Psoriasis.jpg|none|thumb|250px|Figure 6: An example of a patient with psoriasis on their arm.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Decreased Cognition'''&lt;br /&gt;
|&lt;br /&gt;
*emotion processing difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;20014362&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*increased impulsivity &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;19750135&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low IQ score &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
*nonverbal learning disability (slow math calculations)&amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*social cognition difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*visuoperception/visuoconstruction deficit (identifying and locating is difficult due to poor visual working memory) &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Increased Risk of'''&lt;br /&gt;
|&lt;br /&gt;
*cirrhosis of the liver &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*colon and rectal cancers &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*hypothyroidism &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*inflammatory bowel disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
*morbidity and mortality &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*neurovascular disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*osteoporosis &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*ovarian failure &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*renal and gastrointestinal disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Cardiac Abnormalities''' (most serious/life threatening medical problems created by TS)&lt;br /&gt;
|&lt;br /&gt;
*absence of portal vein &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16612647&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*aortic dilatation and dissection  &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*arrhythmias &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;17015510&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*arteriosclerosis &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*biscuspid aortic valves &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*coarctation of the aorta &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*hypertension &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*ischemic heart disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*prolapsed mitral valve &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
== Diagnostic Procedures ==&lt;br /&gt;
&lt;br /&gt;
===Diagnostic Definition===&lt;br /&gt;
&lt;br /&gt;
[[File:Turner Syndrome X Chromosome Variations.jpg|thumb|right|Figure 7: Variations of the Second X Chromosome in Turner Syndrome]]&lt;br /&gt;
TS is diagnosed through both an evaluation of physical features and by analysis of the second sex chromosome. The two criteria must be met for classification of TS, an abnormality in the second sex chromosome must be found and the abnormality must be found to be expressed somehow in the individual's traits. Hence if physical characteristics are not present even when the cytogenetic criterion is met the patient is not diagnosed as having TS.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; In TS the second sex chromosome is either:&lt;br /&gt;
&lt;br /&gt;
*Completely absent (45,X)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Partially absent&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
*Forms an isochromosome (isoXq), possessing a long arm duplication (q) and being devoid of a short arm (p)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*In a ring formation (rX)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
*Is devoid of the homeobox gene, [[#Glossary26 | '''SHOX''']] (short stature homeobox), the deletion being prior to the junction between Xp22.2 and Xp22.3&amp;lt;ref name=&amp;quot;PMID21325865&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
Any of these variations of the second sex chromosome may occur with or without cell line [[#Glossary20 | '''mosaicism''']].&lt;br /&gt;
TS may be diagnosed prenatally or postnatally, using this genetic diagnostic definition coupled with an appropriate phenotypic evaluation of the individual, as outlined below.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Prenatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
The prenatal diagnostic tool for TS is karyotype screening and testing for phenotype abnormalities. If TS is diagnosed prenatally, karyotype screening and an evaluation of the individual's traits should be conducted again postnatally for confirmation of this diagnosis. TS is frequently diagnosed after karyotype screening during [[#Glossary5 | '''chorionic villous sampling''']] or [[#Glossary2 | '''amniocentesis''']].&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
The table below outlines various prenatal tests conducted and the indications that may be present in babies with TS. Although these techniques and the indications they reveal may highlight TS signs, they should not be used as sole diagnostic tools.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Technique'''&lt;br /&gt;
| '''Turner syndrome indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Ultrasound'''&lt;br /&gt;
|&lt;br /&gt;
*Increased nuchal translucency &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary6 | '''Cystic hygroma''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Coarctation of the aorta &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Left-sided cardiac defects &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary3 | '''Brachycephaly''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Renal anomalies &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary23 | '''Polyhydramnios''']] &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary22 | '''Oligohydramnios''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Growth retardation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;10599686&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Turner Syndrome Test Showing Nuchal Translucency.gif|none|thumb|400px|Figure 8: Ultrasound Test Showing Nuchal Translucency.]]&lt;br /&gt;
[[File:Turner Syndrome Test Showing Cystic Hygroma.gif|none|thumb|400px|Figure 9: Ultrasound Test Showing Cystic Hygroma.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Maternal serum screening'''&lt;br /&gt;
|&lt;br /&gt;
*Abnormal [[#Glossary1 | '''α-fetoprotein''']] levels &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary16 | '''inhibin A''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary13 | '''hCG''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal unconjugated [[#Glossary9 | '''estriol''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
|[[File: TurnerSyndromeMaternalSerumSampling.jpg|none|thumb|400px|Figure 10: Maternal Serum Sampling.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Postnatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
In postnatal diagnosis, karyotype investigation is undertaken for the individual. When a female presents with the following clinical findings, explained in table below, it is recommended that chromosomal analysis is undertaken, so that TS may be eliminated&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;:&lt;br /&gt;
{|sstyle= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Age'''&lt;br /&gt;
| '''Phenotypic manifestations/indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Baby/infant'''&lt;br /&gt;
|&lt;br /&gt;
*Oedema of the hands or feet &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Nuchal folds &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Cardiac abnormalities for example aortic dilation, bicuspid aortic valve and aortic coarctation &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Low hairline &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Low set ears &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Small mandible &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Gonadal dysgenesis &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
|&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Child'''&lt;br /&gt;
| &lt;br /&gt;
*Short stature with low growth velocity &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Turned in elbows &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Nail [[#Glossary15 | '''hypoplasia''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Hyperconvex uplifted nails &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Multiple pigmented benign birthmarks/moles &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Characteristic faecies &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Short fourth metacarpal &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*High arched palate &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Extensive and chronic inflammation/infection of the ear &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Hearing loss &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 4 year old child.jpg|left|thumb|150px|Figure 11: Four-year-old girl with Turner syndrome. Note somewhat broad chest, prominent ears and ptosis, but otherwise normal proportion. There is no pronounced neck webbing or edema.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Adolescent/Adult'''&lt;br /&gt;
|&lt;br /&gt;
*Absence of breast development by 13 yr of age &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Pubertal arrest &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Primary or secondary amenorrhoea&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Unexplained short stature &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Renal abnormalities &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Immune disorders &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 35 year old woman.jpg|none|thumb|150px|Figure 12: A Thirty-five-year-old woman with Turner syndrome. Note increased carrying angle of arms, broad flat chest and sexual infantilism, but the lack of pronounced neck webbing or peripheral edema.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Since an absence of the physical signs of puberty and/or growth failure are often seen as normal variations in the population, these possible indications/symptoms of TS may not be further investigated by many clinicians.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20361125&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; When karyotyping in order to exclude natural cell variation, a sufficient number of cells should be assessed. Whilst a sample of blood will often reveal TS, an evaluation of a second tissue sample like the skin is recommend.&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
[[#Glossary7 | '''DNA hybridisation''']] or fluorescent in situ hybridisation should be conducted using a Y centromeric or short arm probe to detect for any additional Y or X chromosomal material.&lt;br /&gt;
If there is any of the Y chromosome present, this may initiate gonadoblastoma development, another primary indicator of TS. Hence the individual should have both a vaginal [[#Glossary28 | '''ultrasonograph''']] and colour [[#Glossary8 | '''Doppler sonograph''']] of their gonads to detect whether any Y chromosome fragments are present. These tests should be repeated regularly to monitor the patient for any malignancy, if a gonadectomy is not undertaken.&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Treatment ==&lt;br /&gt;
&lt;br /&gt;
=== Cardiac Treatment ===&lt;br /&gt;
&lt;br /&gt;
When patients are confirmed with TS, it is necessary to have a full cardiac evaulation including a physical exam and a echocardiogram. If cardiac abnormalities are found, monitoring by a cardiologist is recommended including regular blood pressure checks &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.   If no abnormalities are found, blood pressure in TS patients is still routinely checked and a follow up cardiac evaulation is recommended for girls around the age of puberty (12-15) &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. Coarctation of the aorta and hypoplastic left heart are quite often very serious issues which present in infancy&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt; which need to be dealt with surgically &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;. Aortic valves which are bicuspid rather than tricuspid are monitored regularly to ensure complications are found before they seriously effect the health of the patient. &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
=== Renal care ===&lt;br /&gt;
&lt;br /&gt;
Renal anomalies such as posteriorly rotated or horseshoe kidneys are assessed via an ultrasound to determine if any further treatment such as surgery or drug treatment is needed. This renal ultrasound is repeated again at the time the patient is handed over from the pediatic doctor to the adult specialist. &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
=== Liver function ===&lt;br /&gt;
&lt;br /&gt;
As abnormal liver function is highly prevelant in the TS community, liver function tests are performed when regular blood tests are performed. This is particularlly important test at the begining of puberty and when patients are transfered from their pediatrican to adult specialist to pick up any changes in liver enzymes, as raised levels may indicate the onset of cirrhosis of the liver&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
=== Speech and Feeding difficulties ===&lt;br /&gt;
Many TS patients have trouble with their speech. It is necessary for them to be refered to an Ear, Nose and Throat (ENT) specialist and to a speech therapist to work on improve any speech problems &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  TS infants also often suffer from feeding difficulties due to dysfunctional tongue movemnts, poor chewing skills and a highly arched palate. The ENT specialist and speech therapist may be able to help with improving chewing skills and settling down any difficulties &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Management of Puberty and Growth ===&lt;br /&gt;
&lt;br /&gt;
The main treatment for growth and pubertal development is Hormone Replacement Therapy. Growth Hormone is administered to girls with abnormal growth, resulting in postive growth that is consistent with the expected height of the patient. It is administered as early as 2 years of age, but more often in the age group of 9-12 which is in line with the growth spurt that occurs during puberty &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  &lt;br /&gt;
&lt;br /&gt;
Natural oestrogen and progesterone are administered to girls when they reach the age of puberty in early adolescence. The age at which this treatment commences varies between individuals, as does the dosage. The administration of oestrogen will begin the process of puberty in girls affected by TS and it is important that this begins around the same time as her peers &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;.The use of oestrogen is often held off if the patient is also undergoing GH treatment so that maximum growth can be achieved, as oestrogen will induce the fusion of the epiphyses and limit longitudinal bone growth &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  Around 10% of nonmosaic and 20% of mosaic women with TS will have spontaneous menses (periods) and may not need to undergo Hormone Replacement to initiate puberty. Around 2-5% of these women will have the potential to fall pregnant naturally &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
=== Appearance === &lt;br /&gt;
&lt;br /&gt;
Extreme neck webbing maybe worrying or uncomfortable to women with TS and in some cases plastic surgery such as Z-Plasty is undertaken to fix this problem. Surgery can however, leave scars which may further trouble patients and often advice is given to wear their hair long&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Foot problems are common in young girls with TS with short broad feet making it hard to buy and wear convential shoes&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;.Also if convex growth of toenails occurs, surgery is conducted so that the woman can wear normal shoes &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;. Referal to a podiatrist is necessary for correct up to date advice on foot care and for shoe fittings&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Ongoing Adult Treatment ===&lt;br /&gt;
&lt;br /&gt;
Closely monitoring the health of TS adults is vital in the reduction of morbidity and mortality. An annual physical evalution should be undertaken which includes, blood pressure, heart auscultation, thyroid function, breast exam, and pap smear&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. Particular attention needs to be taken in the area of weight and obesity in TS women due to their high risk of developing diabetes, osteoporosis and hypertension. Patients are to be encouraged to have a healthy lifestyle including healthy eating and exercise&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. Many TS women will need to undergo fertility treatment and in many cases need the assistance of an egg donation to fall pregnant. Counselling throughout this process is recommended as is the referal to a reproductive specialist with the patient feels ready to start a family &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Research ==&lt;br /&gt;
&lt;br /&gt;
===Current research===&lt;br /&gt;
&lt;br /&gt;
Since there is no preventative or cure, currently mainly research is being conducted into the areas of symptoms, possible treatments and risks involved with TS.&lt;br /&gt;
&lt;br /&gt;
'''Growth hormone therapy in Turner syndrome: its affect on height, weight and stature.'''&lt;br /&gt;
*'''Growth hormone effect on body composition in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21720878&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research findings from this paper conclude that people with TS have lower height, higher BMI and higher proportional sitting height and leg length than that of the normal population, no matter whether they undergo hormone replacement therapy or not.&lt;br /&gt;
*'''Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21619701&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study has concluded that all adults with TS had a similar quality of life regardless of whether they have a higher stature due to undergoing growth hormone replacement therapy or not. It was hypothesised that height differences did not affect quality of life as the individuals seemed to adapt to their own life challenges.&lt;br /&gt;
*'''Growth hormone treatment for Turner syndrome in Australia reveals that younger age and increased dose interact to improve response.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21375553&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research from this study found that growth hormone therapy works most optimally if given earlier in life and at a high dose in the first year of treatment.&lt;br /&gt;
*'''Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21398400&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: Another study which confers that the early introduction of growth hormone therapy is most efficacious. However the individual's glucose metabolism should be monitored as the hormones may affect glucose tolerance transiently.&lt;br /&gt;
&lt;br /&gt;
'''Oestrogen hormone replacement therapy in Turner syndrome: the adequate dosage and its effect on uterine development, breast development, bone mineral density and sexual characteristics.'''&lt;br /&gt;
*'''Growth hormone plus childhood low-dose oestrogen in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21449786&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study indicates that undergoing both growth hormone and oestrogen therapy together may help increase the efficacy of each (increasing growth in height and pubertal development) more than when they act alone. &lt;br /&gt;
*'''Oestrogen requirements in girls with Turner syndrome; how low is enough for initiating puberty and uterine development?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21793702&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study assessed the minimal dosage of oestrogen that is required to bring about desired pubertal development in girls with TS.&lt;br /&gt;
*'''Puberty induction in Turner syndrome: results of oestrogen treatment on development of secondary sexual characteristics, uterine dimensions and serum hormone levels.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19200215&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: It was found that uterus of women with TS who had undergone oestrogen was underdeveloped, however the exact cause of this needs to be further researched.&lt;br /&gt;
&lt;br /&gt;
'''Pregnancy and Turner syndrome: evaluation and treatment of risks involved with pregnancy for: the mothers of Turner syndrome babies, for individuals with Turner syndrome and for the babies of individuals with Turner syndrome.'''&lt;br /&gt;
*'''Familial occurrence of Turner syndrome: casual event or increased risk?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21648298&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research examined whether there is a higher probability of having a second child with Turner syndrome and concluded that there is evidence in the small cohort that they used of a greater probability. It is suggested that a larger study be conducted to look further into these findings.that &lt;br /&gt;
*'''Obstetric Outcomes in Women with Turner Karyotype.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21865365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: In this study it was found that women with TS had shorter pregnancies than that of a control group, but no other marked difference was observed between the groups.&lt;br /&gt;
*'''Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21496813&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This paper examined a number of pregnant women with TS, some who incidentally went through puberty even though they had no hormone replacement therapy and another group that had undertaken hormone replacement therapy. Though there were not many complications in either group, the groups were small in number and one mother did have cardiovascular difficulties later on in life. Hence a thorough examination of pregnant TS women should be conducted prior to conception.&lt;br /&gt;
*'''Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20923275&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This article assessed the prognosis of pregnant women with TS. They concluded that spontaneous pregnancy increases the risk of the baby having phenotypic and chromosomal abnormalities compared with women having assisted reproductive therapies.&lt;br /&gt;
&lt;br /&gt;
===Future research=== &lt;br /&gt;
&lt;br /&gt;
Future research needs to be conducted in the following areas: to follow up on the suggestions given in the conclusions of current research papers as outlined in the prior section and also into how the care system is functioning for TS individuals as outlined below.&lt;br /&gt;
&lt;br /&gt;
*'''Medical Care of Girls with Turner Syndrome: Where are we Lacking?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21454226&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research found that a large proportion (&amp;gt;50%) of people with TS are not given adequate information upon diagnosis or screenings for complications and symptoms. Therefore it is suggested in order to rectify this issue that more education should be given to physicians on the syndrome&lt;br /&gt;
*'''Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21752892&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; and '''Turner's syndrome requires multidisciplinary approach.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19514616&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: These article evaluate the need for a multidisciplinary approach to treatment of TS. Since the symptoms can be wide ranging and severe, it is difficult but necessary for all of them to be examined in each individual. Hence a greater care plan for individuals should be implemented upon diagnosis.&lt;br /&gt;
&lt;br /&gt;
== Related Pages ==&lt;br /&gt;
&lt;br /&gt;
*[[Genital System - Abnormalities]] : Other genital abnormalities are described here, which may assist in a differential diagnosis of TS.&lt;br /&gt;
&lt;br /&gt;
*[[X Chromosome]] : A more in depth description of the structure and role of the X chromosome.&lt;br /&gt;
&lt;br /&gt;
*[[Cell Division - Meiosis]] &amp;amp; [[Oocyte Development]]  : Examination of the process of meiosis and the developing oocyte, will assist in the comprehension of why and how there is and abnormality or absence of the X chromosome.&lt;br /&gt;
&lt;br /&gt;
*[[Menstrual Cycle]] : An abnormal menstrual cycle can often be an indicator of TS, hence this information on the normal menstrual pattern is helpful in understanding more about the symptoms and diagnosis of TS.&lt;br /&gt;
&lt;br /&gt;
== Glossary ==&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary1&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Alpha-fetoprotein''' is a protein with an unknown function. It makes up, up to one third of the protein serum levels found in the second trimester of pregnancy and in neural tube defects, these alpha-fetoprotein levels are elevated. &amp;lt;ref name=&amp;quot;McPherson&amp;quot;&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary2&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Amniocentesis''' is a prenatal diagnostic tool. The procedure involves the sampling of amniotic fluid from the amniotic sac using a syringe, that is then tested for a number of abnormalities. &amp;lt;ref name=&amp;quot;Moore&amp;quot;&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary3&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Brachycephaly''' is a condition where the coronal suture of the skull fuses prematurely. Since the skull is unable to expand any further in the anterior-posterior directions due to this closure, it grows to an abnormal size in in the lateral dimension.&amp;lt;ref&amp;gt;Flint, P 2010, ''Flint: Cummings Otolaryngology: Head &amp;amp; Neck Surgery, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-323-05283-2..00186-5--s0045&amp;amp;isbn=978-0-323-05283-2&amp;amp;uniqId=282726024-5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary4&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Coarctation''' of the aorta is an abnormality where the aorta is constricted at one or various sections. This can be caused by genetic and/or environmental factors.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary5&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Chorionic villous sampling''' is a prenatal diagnostic tool which can be used from 7 weeks after fertilisation. It is used to test for a number of chromosomal abnormalities including X-linked and metabolic disorders.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary6&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Cystic hygroma''' is a prenatal abnormality where fluid builds up in the posterior portion of the neck. The body may or may not relieve itself naturally of this accumulation of fluid after birth. &amp;lt;ref&amp;gt;Gabbe, S 2007, ''Gabbe: Obstetrics: Normal and Problem Pregnancies, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-443-06930-7..50011-6--cesec51&amp;amp;isbn=978-0-443-06930-7&amp;amp;uniqId=282726024-10&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary7&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''DNA-DNA hybridisation''' is a technique used to compare the similarities and differences between two sets of genes.&amp;lt;ref&amp;gt;Long, S 2009, ''Bradley: Neurology in Clinical Practice, 5th ed.Long: Principles and Practice of Pediatric Infectious Diseases Revised Reprint, 3rd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X&amp;amp;isbn=978-0-7020-3468-8&amp;amp;uniqId=282726024-19#4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary8&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Doppler sonography''' uses the doppler effect to help image and measure blood flow pattern in the patient.&amp;lt;ref name=&amp;quot;Bradley&amp;quot;&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary9&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Estriol''' is a hormone that is produced in greater amounts during pregnancy especially in the second and third trimester. One of its main functions is to assist with blood flow in the placenta and uterus.&amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary10&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Gametes''' are reproductive (sex) cells (ie: eggs and sperm) that can unite to form a new cell called a zygote. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6&amp;amp;isbn=978-0-443-06811-9&amp;amp;uniqId=283289096-4#4-u1.0-B978-0-443-06811-9..10001-6--b0020&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary11&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Gonadoblastoma''' is an abnormal proliferation of gonadal cells, that may or may not be malignant.&amp;lt;ref name=&amp;quot;Wein&amp;quot;&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary12&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Haploid''' is the status of a cell having only a single set of unpaired chromosomes, or half the number of chromosomes contained in typical body cells. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary13&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''hCG''' is the abbreviation for human chorionic gonadotropin. It is a hormone that functions in the early stage of pregnancy to maintain the blood supply to the corpus luteum.&amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary14&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Homologous chromosomes''' are pairs of chromosomes, one each obtained from maternal and paternal gametes.  46 total chromosome complements are within an organism, 22 pairs of which are homologous chromosomes (called autosomes); the other 2 chromosomes are the sex chromosomes. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary15&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Hypoplasia''' is when an organ or tissue is not completely developed.&amp;lt;ref name=&amp;quot;Wein&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary16&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Inhibin A''' is a peptide produced by the ovaries and acts to restrain the production of follicle-stimulating hormone.&amp;lt;ref&amp;gt;Melmed, S 2011, ''Melmed: Williams Textbook of Endocrinology, 12th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0324-5..00045-6&amp;amp;isbn=978-1-4377-0324-5&amp;amp;uniqId=282726024-25 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary17&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Karyotype''' is an individual's set of chromosomes, both their number and appearance.&amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary18&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Meiosis''' is the specific process of cell division within sex cells which halves the number of chromosomes in the cells through via two cell divisions; this is specific to germ cells only, creating haploid gametes (sex cells) from diploid cells. &amp;lt;ref name=&amp;quot;Moore2&amp;quot;&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary19&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Monosomy''' is a condition wherein a specific chromosome is completely missing within one gamete that combines with a normal gamete to form a zygote; a chromosome has no homologue, or matching chromosome, to pair with. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary20&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Mosaicism''' is when a particular type or all cells of an individual do not have the same genetic makeup. This is caused by a mutation during embryonic cell division.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary21&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Nondisjunction''' is the failure of chromosome pairs to separate entirely during either stage of Meiosis. &amp;lt;ref name=&amp;quot;Moore2&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary22&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Oligohydramnios''' is a prenatal condition, where there is an insufficient amount of amniotic fluid.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary23&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Polyhydramnios''' is a prenatal condition, where there is an excessive amount of amniotic fluid.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary24&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Random assortment''' is the idea first proposed by Gregor Mendel which states that pairs of alleles independently separate during the formation of gametes. &amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;   &lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary25&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Recombination''' is the process which by genetic material is crossed over and switched between two segments of DNA which adds to the genetic diversity of the genome.&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary26&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''SHOX gene''' is the short stature homeobox gene, that when deficient frequently results in short stature.&amp;lt;ref name=&amp;quot;PMID21325865&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary27&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Sister chromatids''' are 2 identical copies of a chromatin that are connected at a position in their center called a centromere. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;     &lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary28&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Ultrasonography''' is a medical technique that employs ultrasound frequencies to visualise a patient's internal bodily structure.&amp;lt;ref name=&amp;quot;Bradley&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== References ==&lt;br /&gt;
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{{2011Projects}}&lt;/div&gt;</summary>
		<author><name>Z3217043</name></author>
	</entry>
	<entry>
		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=77711</id>
		<title>2011 Group Project 1</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=77711"/>
		<updated>2011-10-12T23:54:42Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: /* Related Pages */&lt;/p&gt;
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== Turner Syndrome ==&lt;br /&gt;
&lt;br /&gt;
== Introduction ==&lt;br /&gt;
&lt;br /&gt;
[[File:Karyotype.jpg|250px|thumb|right|Figure 1: The arrow indicates the presence of only one X chromosome in Karyotype &amp;lt;ref&amp;gt;www.ncbi.nlm.nih.gov/pmc/articles/PMC2910953/figure/F0002/&amp;lt;/ref&amp;gt;.]]&lt;br /&gt;
&lt;br /&gt;
Turner Syndrome (TS), named after Henry Hubert Turner who first described the syndrome in his paper in 1938,&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;4557013&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; is one of the most commonly occuring chromosomal disorders. It is caused by a complete or partial X [[#Glossary19 | '''monosomy''']] in some or all cells and occurs in approximately 1 in 2000 live births in females only. The morbidity rate of spontaneous abortions is 10% and only about 1% of fetuses survive to term. &lt;br /&gt;
&lt;br /&gt;
During normal fetal development, each ovary contain as many as 7 million oocytes. The oocytes gradually reduce to 400,000 during menarche, and during menopause fewer than 10,000 remain. However in TS, the ovaries develop normally during embryogenesis but the absence of the second X chromosome leads to an accelerated loss of oocytes, which is complete by the time the infant reaches 2 years of age. Genetically, menopause occurs before menarche and the ovaries are reduced to atrophic fibrous strands, devoid of ova and follicles (streak ovaries). Development of somatic (nongonadal) tissues that gentically resides on the missing or abnormal X chromosome are also severely affected. For example short stature is caused by a deletion of the Xp chromosome and the deletion of Xq causes gonadal dysfunction &amp;lt;ref&amp;gt;Pathologic Basis of Disease, 8th Ed. V. Kumar, R. Cotran &amp;amp; S Robbins (2007), Saunders &amp;amp; Co.&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The most frequent clinical features of TS are short stature and gonadal dysgenesis. Other features may include [[#Glossary4 | '''coarctation''']] of the aorta, renal anomalies, neck webbing and lymphoedema. People who have TS all vary in their clinical phenotype. In recent years there has been increased interest in TS due to the introduction of growth hormone treatment and there has been marked improvement in the understanding of this condition as advances in molecular genetic techniques occur. However, there is still need for further research as a multidisciplinary approach to treatment is vital in improving the quality of life of girls with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Epidemiology ==&lt;br /&gt;
&lt;br /&gt;
[[File:Stats abnormal.jpg|225px|thumb|left|Figure 2: The arrow indicates the presence of only one X chromosome in the karyotype &amp;lt;ref&amp;gt;www.ncbi.nlm.nih.gov/pmc/articles/PMC2910953/figure/F0002/&amp;lt;/ref&amp;gt;.]]&lt;br /&gt;
&lt;br /&gt;
TS affects about 1 in 2000 live-born females. There are three types of karyotypic abnormalities but the most frequently observed is the entire X chromosome deletion resulting in 45 X [[#Glossary17 | '''karyotype''']]. The remaining third have structural abnormalities of the X chromosomes and two thirds are mosaics, whereby, the maternal X is retained in two-thirds of women and the paternal X in the remainder.&lt;br /&gt;
&lt;br /&gt;
The phenotype of TS varies but involves anomalies of the sex chromosome. It could be caused by the limited amount of genetic material in these abnormal chromosomes. TS can be transmitted from mother to daughter, and thus could be described as a heredity linked syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The loss of one of the sex chromosomes in TS, occurs after the zygote has formed or just after the fusion of the [[#Glossary10 | '''gametes''']]. In 70-80% of cases the retained X chromosome is inherited from the mother. In such circumstances it has led to the different phenotypic expression of the genes present on the X chromosome depending if inherited from the maternally or paternally. The morphological differences from those retaining the maternal, compared to retaining the paternal X chromosome, have shown to have a greater incidence of cardiovascular anomalies and neck webbing. &lt;br /&gt;
&lt;br /&gt;
The missing sex chromosome could be either an X or a Y. This has clinical implications because if the Y material is present there is a risk of up to 30% of [[#Glossary11 | '''gonadoblastoma''']] developing in the dysgenetic gonads. This is because the 'gonadoblastoma locus' is located on the Y chromosome which is situated just below the centromere.&lt;br /&gt;
The inactivation of the abnormal X chromosomes is another cause that primarily affects hypogonadism phenotypically in females.  &amp;lt;ref&amp;gt;Wade, Nicholas (2009-09-15). '''&amp;quot;New Clues to Sex Anomalies in How Y Chromosomes Are Copied&amp;quot;'''. The New York Times. Retrieved 2010-05-26. http://www.nytimes.com/2009/09/15/science/15chrom.html?pagewanted=1&amp;amp;_r=1&amp;amp;hpw&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Etiology ==&lt;br /&gt;
[[File:nondisjunction.jpg|1000px|thumb|right|alt text|Figure 3: This figure shows the progeny created from normal disjunction (A), and non-disjunction during both Meiosis I (B) and Meiosis II (C).]]&lt;br /&gt;
&lt;br /&gt;
Causation of TS can be traced back to the stages of sex-cell development.  When sex cells divide through a process called [[#Glossary18 | '''meiosis''']] to create gametes, either a [[#Glossary12 | '''haploid''']] egg (for females) or sperm (for males) two divisions occur, Meiosis I and Meiosis II.  Meiosis is the main process which helps create the vast genetic diversity within all populations by allowing [[#Glossary25 | '''recombination''']] and [[#Glossary24 | '''random assortment''']].  During Meiosis I [[#Glossary14 | '''homologous chromosomes''']] are separated; following Meiosis I, [[#Glossary27 | '''sister chromatids''']] separate during Meiosis II.  If during either stage of Meiosis I or II the homologous chromosomes or sister chromatids, respectively, do not fully separate, a phenomenon can occur called [[#Glossary21 | '''nondisjunction''']].  Nondisjunction causes an uneven distribution of genetic material to each daughter nuclei.  When an uneven distribution is such that one of the gametes does not have any of a chromosome, it can combine with another normal gamete to create a fertilized egg with only one chromosome as opposed to the normal two that are found in human cells; this is called a monosomy.  When this occurs in the sex chromosomes leaving only a single X chromosome (X0 genotype) TS is created, leaving only 45 chromosomes in the zygote rather than the normal 46.  &lt;br /&gt;
&lt;br /&gt;
[[File:22+23=45.jpg|400px|thumb|right|Figure 4: 22 chromosomal egg + 23 chromosomal sperm = 45 chromsomes in zygote instead of normal 46.]]&lt;br /&gt;
&lt;br /&gt;
TS can also be created by partial monosomy or disjunctions, meaning that although a whole X chromosome is not missing, portions of it are not present or are non-functional, rendering the chromosome useless.  Any disjunction seems to be completely sporadic and have yet to be attributed to any genetic link. The only thing known for sure is that during conception a portion of or the whole second sex chromosome is not conveyed to the zygote.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;7763055&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; Because at least one X chromosome is necessary for vital functions, this condition can only be found in females.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Clinical Manifestations ==&lt;br /&gt;
&lt;br /&gt;
The following are a list of characteristics and diseases which tend to accompany, be caused by, or be related to TS.  &lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| &lt;br /&gt;
| '''Clinical Manifestations'''&lt;br /&gt;
| '''Related Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Physical Attributes'''&lt;br /&gt;
|&lt;br /&gt;
*congenital malformations (heart, urinary system, face, neck, ears) &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*gonadal dysgenesis (causes oestrogen deficiencies, which can cause infertility) &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*increased risk of fractures &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16624607&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low cortical bone mineral density (BMD) &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;/&amp;gt;&lt;br /&gt;
*middle ear infections &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*premature ovarian failure &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*short/reduced stature &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*webbed neck &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;17562588&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Webbed Neck.jpg|none|thumb|250px|Figure 5: An example of neck webbing.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Prone to Develop Autoimmune Conditions'''&lt;br /&gt;
|&lt;br /&gt;
*alopecia areata &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coeliac disease (CD) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12466343&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*psoriasis &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;/&amp;gt;&lt;br /&gt;
*thyroiditis &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*type 1 diabetes &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
|[[File:Psoriasis.jpg|none|thumb|250px|Figure 6: An example of a patient with psoriasis on their arm.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Decreased Cognition'''&lt;br /&gt;
|&lt;br /&gt;
*emotion processing difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;20014362&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*increased impulsivity &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;19750135&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low IQ score &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
*nonverbal learning disability (slow math calculations)&amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*social cognition difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*visuoperception/visuoconstruction deficit (identifying and locating is difficult due to poor visual working memory) &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Increased Risk of'''&lt;br /&gt;
|&lt;br /&gt;
*cirrhosis of the liver &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*colon and rectal cancers &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*hypothyroidism &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*inflammatory bowel disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
*morbidity and mortality &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*neurovascular disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*osteoporosis &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*ovarian failure &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*renal and gastrointestinal disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Cardiac Abnormalities''' (most serious/life threatening medical problems created by TS)&lt;br /&gt;
|&lt;br /&gt;
*absence of portal vein &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16612647&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*aortic dilatation and dissection  &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*arrhythmias &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;17015510&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*arteriosclerosis &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*biscuspid aortic valves &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*coarctation of the aorta &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*hypertension &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*ischemic heart disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*prolapsed mitral valve &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
== Diagnostic Procedures ==&lt;br /&gt;
&lt;br /&gt;
===Diagnostic Definition===&lt;br /&gt;
&lt;br /&gt;
[[File:Turner Syndrome X Chromosome Variations.jpg|thumb|right|Figure 7: Variations of the Second X Chromosome in Turner Syndrome]]&lt;br /&gt;
TS is diagnosed through both an evaluation of physical features and by analysis of the second sex chromosome. The two criteria must be met for classification of TS, an abnormality in the second sex chromosome must be found and the abnormality must be found to be expressed somehow in the individual's traits. Hence if physical characteristics are not present even when the cytogenetic criterion is met the patient is not diagnosed as having TS.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; In TS the second sex chromosome is either:&lt;br /&gt;
&lt;br /&gt;
*Completely absent (45,X)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Partially absent&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
*Forms an isochromosome (isoXq), possessing a long arm duplication (q) and being devoid of a short arm (p)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*In a ring formation (rX)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
*Is devoid of the homeobox gene, [[#Glossary26 | '''SHOX''']] (short stature homeobox), the deletion being prior to the junction between Xp22.2 and Xp22.3&amp;lt;ref name=&amp;quot;PMID21325865&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
Any of these variations of the second sex chromosome may occur with or without cell line [[#Glossary20 | '''mosaicism''']].&lt;br /&gt;
TS may be diagnosed prenatally or postnatally, using this genetic diagnostic definition coupled with an appropriate phenotypic evaluation of the individual, as outlined below.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Prenatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
The prenatal diagnostic tool for TS is karyotype screening and testing for phenotype abnormalities. If TS is diagnosed prenatally, karyotype screening and an evaluation of the individual's traits should be conducted again postnatally for confirmation of this diagnosis. TS is frequently diagnosed after karyotype screening during [[#Glossary5 | '''chorionic villous sampling''']] or [[#Glossary2 | '''amniocentesis''']].&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
The table below outlines various prenatal tests conducted and the indications that may be present in babies with TS. Although these techniques and the indications they reveal may highlight TS signs, they should not be used as sole diagnostic tools.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Technique'''&lt;br /&gt;
| '''Turner syndrome indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Ultrasound'''&lt;br /&gt;
|&lt;br /&gt;
*Increased nuchal translucency &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary6 | '''Cystic hygroma''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Coarctation of the aorta &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Left-sided cardiac defects &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary3 | '''Brachycephaly''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Renal anomalies &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary23 | '''Polyhydramnios''']] &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary22 | '''Oligohydramnios''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Growth retardation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;10599686&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Turner Syndrome Test Showing Nuchal Translucency.gif|none|thumb|400px|Figure 8: Ultrasound Test Showing Nuchal Translucency.]]&lt;br /&gt;
[[File:Turner Syndrome Test Showing Cystic Hygroma.gif|none|thumb|400px|Figure 9: Ultrasound Test Showing Cystic Hygroma.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Maternal serum screening'''&lt;br /&gt;
|&lt;br /&gt;
*Abnormal [[#Glossary1 | '''α-fetoprotein''']] levels &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary16 | '''inhibin A''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary13 | '''hCG''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal unconjugated [[#Glossary9 | '''estriol''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
|[[File: TurnerSyndromeMaternalSerumSampling.jpg|none|thumb|400px|Figure 10: Maternal Serum Sampling.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Postnatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
In postnatal diagnosis, karyotype investigation is undertaken for the individual. When a female presents with the following clinical findings, explained in table below, it is recommended that chromosomal analysis is undertaken, so that TS may be eliminated&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;:&lt;br /&gt;
{|sstyle= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Age'''&lt;br /&gt;
| '''Phenotypic manifestations/indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Baby/infant'''&lt;br /&gt;
|&lt;br /&gt;
*Oedema of the hands or feet &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Nuchal folds &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Cardiac abnormalities for example aortic dilation, bicuspid aortic valve and aortic coarctation &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Low hairline &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Low set ears &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Small mandible &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Gonadal dysgenesis &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
|&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Child'''&lt;br /&gt;
| &lt;br /&gt;
*Short stature with low growth velocity &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Turned in elbows &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Nail [[#Glossary15 | '''hypoplasia''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Hyperconvex uplifted nails &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Multiple pigmented benign birthmarks/moles &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Characteristic faecies &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Short fourth metacarpal &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*High arched palate &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Extensive and chronic inflammation/infection of the ear &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Hearing loss &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 4 year old child.jpg|left|thumb|150px|Figure 11: Four-year-old girl with Turner syndrome. Note somewhat broad chest, prominent ears and ptosis, but otherwise normal proportion. There is no pronounced neck webbing or edema.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Adolescent/Adult'''&lt;br /&gt;
|&lt;br /&gt;
*Absence of breast development by 13 yr of age &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Pubertal arrest &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Primary or secondary amenorrhoea&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Unexplained short stature &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Renal abnormalities &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Immune disorders &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 35 year old woman.jpg|none|thumb|150px|Figure 12: A Thirty-five-year-old woman with Turner syndrome. Note increased carrying angle of arms, broad flat chest and sexual infantilism, but the lack of pronounced neck webbing or peripheral edema.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Since an absence of the physical signs of puberty and/or growth failure are often seen as normal variations in the population, these possible indications/symptoms of TS may not be further investigated by many clinicians.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20361125&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; When karyotyping in order to exclude natural cell variation, a sufficient number of cells should be assessed. Whilst a sample of blood will often reveal TS, an evaluation of a second tissue sample like the skin is recommend.&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
[[#Glossary7 | '''DNA hybridisation''']] or fluorescent in situ hybridisation should be conducted using a Y centromeric or short arm probe to detect for any additional Y or X chromosomal material.&lt;br /&gt;
If there is any of the Y chromosome present, this may initiate gonadoblastoma development, another primary indicator of TS. Hence the individual should have both a vaginal [[#Glossary28 | '''ultrasonograph''']] and colour [[#Glossary8 | '''Doppler sonograph''']] of their gonads to detect whether any Y chromosome fragments are present. These tests should be repeated regularly to monitor the patient for any malignancy, if a gonadectomy is not undertaken.&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Treatment ==&lt;br /&gt;
&lt;br /&gt;
=== Cardiac Treatment ===&lt;br /&gt;
&lt;br /&gt;
When patients are confirmed with TS, it is necessary to have a full cardiac evaulation including a physical exam and a echocardiogram. If cardiac abnormalities are found, monitoring by a cardiologist is recommended including regular blood pressure checks &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.   If no abnormalities are found, blood pressure in TS patients is still routinely checked and a follow up cardiac evaulation is recommended for girls around the age of puberty (12-15) &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. Coarctation of the aorta and hypoplastic left heart are quite often very serious issues which present in infancy&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt; which need to be dealt with surgically &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;. Aortic valves which are bicuspid rather than tricuspid are monitored regularly to ensure complications are found before they seriously effect the health of the patient. &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
=== Renal care ===&lt;br /&gt;
&lt;br /&gt;
Renal anomalies such as posteriorly rotated or horseshoe kidneys are assessed via an ultrasound to determine if any further treatment such as surgery or drug treatment is needed. This renal ultrasound is repeated again at the time the patient is handed over from the pediatic doctor to the adult specialist. &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
=== Liver function ===&lt;br /&gt;
&lt;br /&gt;
As abnormal liver function is highly prevelant in the TS community, liver function tests are performed when regular blood tests are performed. This is particularlly important test at the begining of puberty and when patients are transfered from their pediatrican to adult specialist to pick up any changes in liver enzymes, as raised levels may indicate the onset of cirrhosis of the liver&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
=== Speech and Feeding difficulties ===&lt;br /&gt;
Many TS patients have trouble with their speech. It is necessary for them to be refered to an Ear, Nose and Throat (ENT) specialist and to a speech therapist to work on improve any speech problems &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  TS infants also often suffer from feeding difficulties due to dysfunctional tongue movemnts, poor chewing skills and a highly arched palate. The ENT specialist and speech therapist may be able to help with improving chewing skills and settling down any difficulties &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Management of Puberty and Growth ===&lt;br /&gt;
&lt;br /&gt;
The main treatment for growth and pubertal development is Hormone Replacement Therapy. Growth Hormone is administered to girls with abnormal growth, resulting in postive growth that is consistent with the expected height of the patient. It is administered as early as 2 years of age, but more often in the age group of 9-12 which is in line with the growth spurt that occurs during puberty &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  &lt;br /&gt;
&lt;br /&gt;
Natural oestrogen and progesterone are administered to girls when they reach the age of puberty in early adolescence. The age at which this treatment commences varies between individuals, as does the dosage. The administration of oestrogen will begin the process of puberty in girls affected by TS and it is important that this begins around the same time as her peers &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;.The use of oestrogen is often held off if the patient is also undergoing GH treatment so that maximum growth can be achieved, as oestrogen will induce the fusion of the epiphyses and limit longitudinal bone growth &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  Around 10% of nonmosaic and 20% of mosaic women with TS will have spontaneous menses (periods) and may not need to undergo Hormone Replacement to initiate puberty. Around 2-5% of these women will have the potential to fall pregnant naturally &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
=== Appearance === &lt;br /&gt;
&lt;br /&gt;
Extreme neck webbing maybe worrying or uncomfortable to women with TS and in some cases plastic surgery such as Z-Plasty is undertaken to fix this problem. Surgery can however, leave scars which may further trouble patients and often advice is given to wear their hair long&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Foot problems are common in young girls with TS with short broad feet making it hard to buy and wear convential shoes&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;.Also if convex growth of toenails occurs, surgery is conducted so that the woman can wear normal shoes &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;. Referal to a podiatrist is necessary for correct up to date advice on foot care and for shoe fittings&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Ongoing Adult Treatment ===&lt;br /&gt;
&lt;br /&gt;
Closely monitoring the health of TS adults is vital in the reduction of morbidity and mortality. An annual physical evalution should be undertaken which includes, blood pressure, heart auscultation, thyroid function, breast exam, and pap smear&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. Particular attention needs to be taken in the area of weight and obesity in TS women due to their high risk of developing diabetes, osteoporosis and hypertension. Patients are to be encouraged to have a healthy lifestyle including healthy eating and exercise&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. Many TS women will need to undergo fertility treatment and in many cases need the assistance of an egg donation to fall pregnant. Counselling throughout this process is recommended as is the referal to a reproductive specialist with the patient feels ready to start a family &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Research ==&lt;br /&gt;
&lt;br /&gt;
===Current research===&lt;br /&gt;
&lt;br /&gt;
Since there is no preventative or cure, currently mainly research is being conducted into the areas of symptoms, possible treatments and risks involved with TS.&lt;br /&gt;
&lt;br /&gt;
'''Growth hormone therapy in Turner syndrome: its affect on height, weight and stature.'''&lt;br /&gt;
*'''Growth hormone effect on body composition in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21720878&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research findings from this paper conclude that people with TS have lower height, higher BMI and higher proportional sitting height and leg length than that of the normal population, no matter whether they undergo hormone replacement therapy or not.&lt;br /&gt;
*'''Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21619701&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study has concluded that all adults with TS had a similar quality of life regardless of whether they have a higher stature due to undergoing growth hormone replacement therapy or not. It was hypothesised that height differences did not affect quality of life as the individuals seemed to adapt to their own life challenges.&lt;br /&gt;
*'''Growth hormone treatment for Turner syndrome in Australia reveals that younger age and increased dose interact to improve response.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21375553&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research from this study found that growth hormone therapy works most optimally if given earlier in life and at a high dose in the first year of treatment.&lt;br /&gt;
*'''Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21398400&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: Another study which confers that the early introduction of growth hormone therapy is most efficacious. However the individual's glucose metabolism should be monitored as the hormones may affect glucose tolerance transiently.&lt;br /&gt;
&lt;br /&gt;
'''Oestrogen hormone replacement therapy in Turner syndrome: the adequate dosage and its effect on uterine development, breast development, bone mineral density and sexual characteristics.'''&lt;br /&gt;
*'''Growth hormone plus childhood low-dose oestrogen in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21449786&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study indicates that undergoing both growth hormone and oestrogen therapy together may help increase the efficacy of each (increasing growth in height and pubertal development) more than when they act alone. &lt;br /&gt;
*'''Oestrogen requirements in girls with Turner syndrome; how low is enough for initiating puberty and uterine development?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21793702&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study assessed the minimal dosage of oestrogen that is required to bring about desired pubertal development in girls with TS.&lt;br /&gt;
*'''Puberty induction in Turner syndrome: results of oestrogen treatment on development of secondary sexual characteristics, uterine dimensions and serum hormone levels.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19200215&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: It was found that uterus of women with TS who had undergone oestrogen was underdeveloped, however the exact cause of this needs to be further researched.&lt;br /&gt;
&lt;br /&gt;
'''Pregnancy and Turner syndrome: evaluation and treatment of risks involved with pregnancy for: the mothers of Turner syndrome babies, for individuals with Turner syndrome and for the babies of individuals with Turner syndrome.'''&lt;br /&gt;
*'''Familial occurrence of Turner syndrome: casual event or increased risk?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21648298&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research examined whether there is a higher probability of having a second child with Turner syndrome and concluded that there is evidence in the small cohort that they used of a greater probability. It is suggested that a larger study be conducted to look further into these findings.that &lt;br /&gt;
*'''Obstetric Outcomes in Women with Turner Karyotype.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21865365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: In this study it was found that women with TS had shorter pregnancies than that of a control group, but no other marked difference was observed between the groups.&lt;br /&gt;
*'''Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21496813&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This paper examined a number of pregnant women with TS, some who incidentally went through puberty even though they had no hormone replacement therapy and another group that had undertaken hormone replacement therapy. Though there were not many complications in either group, the groups were small in number and one mother did have cardiovascular difficulties later on in life. Hence a thorough examination of pregnant TS women should be conducted prior to conception.&lt;br /&gt;
*'''Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20923275&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This article assessed the prognosis of pregnant women with TS. They concluded that spontaneous pregnancy increases the risk of the baby having phenotypic and chromosomal abnormalities compared with women having assisted reproductive therapies.&lt;br /&gt;
&lt;br /&gt;
===Future research=== &lt;br /&gt;
&lt;br /&gt;
Future research needs to be conducted in the following areas: to follow up on the suggestions given in the conclusions of current research papers as outlined in the prior section and also into how the care system is functioning for TS individuals as outlined below.&lt;br /&gt;
&lt;br /&gt;
*'''Medical Care of Girls with Turner Syndrome: Where are we Lacking?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21454226&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research found that a large proportion (&amp;gt;50%) of people with TS are not given adequate information upon diagnosis or screenings for complications and symptoms. Therefore it is suggested in order to rectify this issue that more education should be given to physicians on the syndrome&lt;br /&gt;
*'''Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21752892&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; and '''Turner's syndrome requires multidisciplinary approach.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19514616&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: These article evaluate the need for a multidisciplinary approach to treatment of TS. Since the symptoms can be wide ranging and severe, it is difficult but necessary for all of them to be examined in each individual. Hence a greater care plan for individuals should be implemented upon diagnosis.&lt;br /&gt;
&lt;br /&gt;
== Related Pages ==&lt;br /&gt;
&lt;br /&gt;
*[[Genital System - Abnormalities]] : Other genital abnormalities are described here, which may assist in a differential diagnosis of TS.&lt;br /&gt;
&lt;br /&gt;
*[[X Chromosome]] : A more in depth description of the structure and role of the X chromosome.&lt;br /&gt;
&lt;br /&gt;
*[[Cell Division - Meiosis]] &amp;amp; [[Oocyte Development]]  : Examination of the process of meiosis and the developing oocyte, will assist in the comprehension of why and how there is and abnormality or absence of the X chromosome.&lt;br /&gt;
&lt;br /&gt;
*[[Menstrual Cycle]] : An abnormal menstrual cycle can often be an indicator of TS, hence this information on the normal menstrual pattern is helpful in understanding more about the symptoms and diagnosis of TS.&lt;br /&gt;
&lt;br /&gt;
== Glossary ==&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary1&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Alpha-fetoprotein''' is a protein with an unknown function. It makes up, up to one third of the protein serum levels found in the second trimester of pregnancy and in neural tube defects, these alpha-fetoprotein levels are elevated. &amp;lt;ref name=&amp;quot;McPherson&amp;quot;&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary2&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Amniocentesis''' is a prenatal diagnostic tool. The procedure involves the sampling of amniotic fluid from the amniotic sac using a syringe, that is then tested for a number of abnormalities. &amp;lt;ref name=&amp;quot;Moore&amp;quot;&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary3&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Brachycephaly''' is a condition where the coronal suture of the skull fuses prematurely. Since the skull is unable to expand any further in the anterior-posterior directions due to this closure, it grows to an abnormal size in in the lateral dimension.&amp;lt;ref&amp;gt;Flint, P 2010, ''Flint: Cummings Otolaryngology: Head &amp;amp; Neck Surgery, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-323-05283-2..00186-5--s0045&amp;amp;isbn=978-0-323-05283-2&amp;amp;uniqId=282726024-5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary4&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Coarctation''' of the aorta is an abnormality where the aorta is constricted at one or various sections. This can be caused by genetic and/or environmental factors.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary5&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Chorionic villous sampling''' is a prenatal diagnostic tool which can be used from 7 weeks after fertilisation. It is used to test for a number of chromosomal abnormalities including X-linked and metabolic disorders.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary6&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Cystic hygroma''' is a prenatal abnormality where fluid builds up in the posterior portion of the neck. The body may or may not relieve itself naturally of this accumulation of fluid after birth. &amp;lt;ref&amp;gt;Gabbe, S 2007, ''Gabbe: Obstetrics: Normal and Problem Pregnancies, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-443-06930-7..50011-6--cesec51&amp;amp;isbn=978-0-443-06930-7&amp;amp;uniqId=282726024-10&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary7&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''DNA-DNA hybridisation''' is a technique used to compare the similarities and differences between two sets of genes.&amp;lt;ref&amp;gt;Long, S 2009, ''Bradley: Neurology in Clinical Practice, 5th ed.Long: Principles and Practice of Pediatric Infectious Diseases Revised Reprint, 3rd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X&amp;amp;isbn=978-0-7020-3468-8&amp;amp;uniqId=282726024-19#4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary8&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Doppler sonography''' uses the doppler effect to help image and measure blood flow pattern in the patient.&amp;lt;ref name=&amp;quot;Bradley&amp;quot;&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary9&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Estriol''' is a hormone that is produced in greater amounts during pregnancy especially in the second and third trimester. One of its main functions is to assist with blood flow in the placenta and uterus.&amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary10&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Gametes''' are reproductive (sex) cells (ie: eggs and sperm) that can unite to form a new cell called a zygote. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6&amp;amp;isbn=978-0-443-06811-9&amp;amp;uniqId=283289096-4#4-u1.0-B978-0-443-06811-9..10001-6--b0020&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary11&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Gonadoblastoma''' is an abnormal proliferation of gonadal cells, that may or may not be malignant.&amp;lt;ref name=&amp;quot;Wein&amp;quot;&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary12&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Haploid''' is the status of a cell having only a single set of unpaired chromosomes, or half the number of chromosomes contained in typical body cells. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary13&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''hCG''' is the abbreviation for human chorionic gonadotropin. It is a hormone that functions in the early stage of pregnancy to maintain the blood supply to the corpus luteum.&amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary14&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Homologous chromosomes''' are pairs of chromosomes, one each obtained from maternal and paternal gametes.  46 total chromosome complements are within an organism, 22 pairs of which are homologous chromosomes (called autosomes); the other 2 chromosomes are the sex chromosomes. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary15&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Hypoplasia''' is when an organ or tissue is not completely developed.&amp;lt;ref name=&amp;quot;Wein&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary16&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Inhibin A''' is a peptide produced by the ovaries and acts to restrain the production of follicle-stimulating hormone.&amp;lt;ref&amp;gt;Melmed, S 2011, ''Melmed: Williams Textbook of Endocrinology, 12th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0324-5..00045-6&amp;amp;isbn=978-1-4377-0324-5&amp;amp;uniqId=282726024-25 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary17&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Karyotype''' is an individual's set of chromosomes, both their number and appearance.&amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary18&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Meiosis''' is the specific process of cell division within sex cells which halves the number of chromosomes in the cells through via two cell divisions; this is specific to germ cells only, creating haploid gametes (sex cells) from diploid cells. &amp;lt;ref name=&amp;quot;Moore2&amp;quot;&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary19&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Monosomy''' is a condition wherein a specific chromosome is completely missing within one gamete that combines with a normal gamete to form a zygote; a chromosome has no homologue, or matching chromosome, to pair with. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary20&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Mosaicism''' is when a particular type or all cells of an individual do not have the same genetic makeup. This is caused by a mutation during embryonic cell division.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary21&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Nondisjunction''' is the failure of chromosome pairs to separate entirely during either stage of Meiosis. &amp;lt;ref name=&amp;quot;Moore2&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary22&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Oligohydramnios''' is a prenatal condition, where there is an insufficient amount of amniotic fluid.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary23&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Polyhydramnios''' is a prenatal condition, where there is an excessive amount of amniotic fluid.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary24&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Random assortment''' is the idea first proposed by Gregor Mendel which states that pairs of alleles independently separate during the formation of gametes. &amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;   &lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary25&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Recombination''' is the process which by genetic material is crossed over and switched between two segments of DNA which adds to the genetic diversity of the genome.&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary26&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''SHOX gene''' is the short stature homeobox gene, that when deficient frequently results in short stature.&amp;lt;ref name=&amp;quot;PMID21325865&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary27&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Sister chromatids''' are 2 identical copies of a chromatin that are connected at a position in their center called a centromere. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;     &lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary28&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Ultrasonography''' is a medical technique that employs ultrasound frequencies to visualise a patient's internal bodily structure.&amp;lt;ref name=&amp;quot;Bradley&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== References ==&lt;br /&gt;
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{{2011Projects}}&lt;/div&gt;</summary>
		<author><name>Z3217043</name></author>
	</entry>
	<entry>
		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=77709</id>
		<title>2011 Group Project 1</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=77709"/>
		<updated>2011-10-12T23:53:32Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: /* Research */&lt;/p&gt;
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&lt;div&gt;{{2011ProjectsMH}}&lt;br /&gt;
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== Turner Syndrome ==&lt;br /&gt;
&lt;br /&gt;
== Introduction ==&lt;br /&gt;
&lt;br /&gt;
[[File:Karyotype.jpg|250px|thumb|right|Figure 1: The arrow indicates the presence of only one X chromosome in Karyotype &amp;lt;ref&amp;gt;www.ncbi.nlm.nih.gov/pmc/articles/PMC2910953/figure/F0002/&amp;lt;/ref&amp;gt;.]]&lt;br /&gt;
&lt;br /&gt;
Turner Syndrome (TS), named after Henry Hubert Turner who first described the syndrome in his paper in 1938,&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;4557013&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; is one of the most commonly occuring chromosomal disorders. It is caused by a complete or partial X [[#Glossary19 | '''monosomy''']] in some or all cells and occurs in approximately 1 in 2000 live births in females only. The morbidity rate of spontaneous abortions is 10% and only about 1% of fetuses survive to term. &lt;br /&gt;
&lt;br /&gt;
During normal fetal development, each ovary contain as many as 7 million oocytes. The oocytes gradually reduce to 400,000 during menarche, and during menopause fewer than 10,000 remain. However in TS, the ovaries develop normally during embryogenesis but the absence of the second X chromosome leads to an accelerated loss of oocytes, which is complete by the time the infant reaches 2 years of age. Genetically, menopause occurs before menarche and the ovaries are reduced to atrophic fibrous strands, devoid of ova and follicles (streak ovaries). Development of somatic (nongonadal) tissues that gentically resides on the missing or abnormal X chromosome are also severely affected. For example short stature is caused by a deletion of the Xp chromosome and the deletion of Xq causes gonadal dysfunction &amp;lt;ref&amp;gt;Pathologic Basis of Disease, 8th Ed. V. Kumar, R. Cotran &amp;amp; S Robbins (2007), Saunders &amp;amp; Co.&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The most frequent clinical features of TS are short stature and gonadal dysgenesis. Other features may include [[#Glossary4 | '''coarctation''']] of the aorta, renal anomalies, neck webbing and lymphoedema. People who have TS all vary in their clinical phenotype. In recent years there has been increased interest in TS due to the introduction of growth hormone treatment and there has been marked improvement in the understanding of this condition as advances in molecular genetic techniques occur. However, there is still need for further research as a multidisciplinary approach to treatment is vital in improving the quality of life of girls with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Epidemiology ==&lt;br /&gt;
&lt;br /&gt;
[[File:Stats abnormal.jpg|225px|thumb|left|Figure 2: The arrow indicates the presence of only one X chromosome in the karyotype &amp;lt;ref&amp;gt;www.ncbi.nlm.nih.gov/pmc/articles/PMC2910953/figure/F0002/&amp;lt;/ref&amp;gt;.]]&lt;br /&gt;
&lt;br /&gt;
TS affects about 1 in 2000 live-born females. There are three types of karyotypic abnormalities but the most frequently observed is the entire X chromosome deletion resulting in 45 X [[#Glossary17 | '''karyotype''']]. The remaining third have structural abnormalities of the X chromosomes and two thirds are mosaics, whereby, the maternal X is retained in two-thirds of women and the paternal X in the remainder.&lt;br /&gt;
&lt;br /&gt;
The phenotype of TS varies but involves anomalies of the sex chromosome. It could be caused by the limited amount of genetic material in these abnormal chromosomes. TS can be transmitted from mother to daughter, and thus could be described as a heredity linked syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The loss of one of the sex chromosomes in TS, occurs after the zygote has formed or just after the fusion of the [[#Glossary10 | '''gametes''']]. In 70-80% of cases the retained X chromosome is inherited from the mother. In such circumstances it has led to the different phenotypic expression of the genes present on the X chromosome depending if inherited from the maternally or paternally. The morphological differences from those retaining the maternal, compared to retaining the paternal X chromosome, have shown to have a greater incidence of cardiovascular anomalies and neck webbing. &lt;br /&gt;
&lt;br /&gt;
The missing sex chromosome could be either an X or a Y. This has clinical implications because if the Y material is present there is a risk of up to 30% of [[#Glossary11 | '''gonadoblastoma''']] developing in the dysgenetic gonads. This is because the 'gonadoblastoma locus' is located on the Y chromosome which is situated just below the centromere.&lt;br /&gt;
The inactivation of the abnormal X chromosomes is another cause that primarily affects hypogonadism phenotypically in females.  &amp;lt;ref&amp;gt;Wade, Nicholas (2009-09-15). '''&amp;quot;New Clues to Sex Anomalies in How Y Chromosomes Are Copied&amp;quot;'''. The New York Times. Retrieved 2010-05-26. http://www.nytimes.com/2009/09/15/science/15chrom.html?pagewanted=1&amp;amp;_r=1&amp;amp;hpw&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Etiology ==&lt;br /&gt;
[[File:nondisjunction.jpg|1000px|thumb|right|alt text|Figure 3: This figure shows the progeny created from normal disjunction (A), and non-disjunction during both Meiosis I (B) and Meiosis II (C).]]&lt;br /&gt;
&lt;br /&gt;
Causation of TS can be traced back to the stages of sex-cell development.  When sex cells divide through a process called [[#Glossary18 | '''meiosis''']] to create gametes, either a [[#Glossary12 | '''haploid''']] egg (for females) or sperm (for males) two divisions occur, Meiosis I and Meiosis II.  Meiosis is the main process which helps create the vast genetic diversity within all populations by allowing [[#Glossary25 | '''recombination''']] and [[#Glossary24 | '''random assortment''']].  During Meiosis I [[#Glossary14 | '''homologous chromosomes''']] are separated; following Meiosis I, [[#Glossary27 | '''sister chromatids''']] separate during Meiosis II.  If during either stage of Meiosis I or II the homologous chromosomes or sister chromatids, respectively, do not fully separate, a phenomenon can occur called [[#Glossary21 | '''nondisjunction''']].  Nondisjunction causes an uneven distribution of genetic material to each daughter nuclei.  When an uneven distribution is such that one of the gametes does not have any of a chromosome, it can combine with another normal gamete to create a fertilized egg with only one chromosome as opposed to the normal two that are found in human cells; this is called a monosomy.  When this occurs in the sex chromosomes leaving only a single X chromosome (X0 genotype) TS is created, leaving only 45 chromosomes in the zygote rather than the normal 46.  &lt;br /&gt;
&lt;br /&gt;
[[File:22+23=45.jpg|400px|thumb|right|Figure 4: 22 chromosomal egg + 23 chromosomal sperm = 45 chromsomes in zygote instead of normal 46.]]&lt;br /&gt;
&lt;br /&gt;
TS can also be created by partial monosomy or disjunctions, meaning that although a whole X chromosome is not missing, portions of it are not present or are non-functional, rendering the chromosome useless.  Any disjunction seems to be completely sporadic and have yet to be attributed to any genetic link. The only thing known for sure is that during conception a portion of or the whole second sex chromosome is not conveyed to the zygote.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;7763055&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; Because at least one X chromosome is necessary for vital functions, this condition can only be found in females.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Clinical Manifestations ==&lt;br /&gt;
&lt;br /&gt;
The following are a list of characteristics and diseases which tend to accompany, be caused by, or be related to TS.  &lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| &lt;br /&gt;
| '''Clinical Manifestations'''&lt;br /&gt;
| '''Related Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Physical Attributes'''&lt;br /&gt;
|&lt;br /&gt;
*congenital malformations (heart, urinary system, face, neck, ears) &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*gonadal dysgenesis (causes oestrogen deficiencies, which can cause infertility) &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*increased risk of fractures &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16624607&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low cortical bone mineral density (BMD) &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;/&amp;gt;&lt;br /&gt;
*middle ear infections &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*premature ovarian failure &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*short/reduced stature &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*webbed neck &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;17562588&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Webbed Neck.jpg|none|thumb|250px|Figure 5: An example of neck webbing.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Prone to Develop Autoimmune Conditions'''&lt;br /&gt;
|&lt;br /&gt;
*alopecia areata &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coeliac disease (CD) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12466343&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*psoriasis &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;/&amp;gt;&lt;br /&gt;
*thyroiditis &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*type 1 diabetes &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
|[[File:Psoriasis.jpg|none|thumb|250px|Figure 6: An example of a patient with psoriasis on their arm.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Decreased Cognition'''&lt;br /&gt;
|&lt;br /&gt;
*emotion processing difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;20014362&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*increased impulsivity &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;19750135&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low IQ score &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
*nonverbal learning disability (slow math calculations)&amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*social cognition difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*visuoperception/visuoconstruction deficit (identifying and locating is difficult due to poor visual working memory) &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Increased Risk of'''&lt;br /&gt;
|&lt;br /&gt;
*cirrhosis of the liver &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*colon and rectal cancers &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*hypothyroidism &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*inflammatory bowel disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
*morbidity and mortality &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*neurovascular disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*osteoporosis &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*ovarian failure &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*renal and gastrointestinal disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Cardiac Abnormalities''' (most serious/life threatening medical problems created by TS)&lt;br /&gt;
|&lt;br /&gt;
*absence of portal vein &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16612647&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*aortic dilatation and dissection  &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*arrhythmias &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;17015510&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*arteriosclerosis &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*biscuspid aortic valves &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*coarctation of the aorta &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*hypertension &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*ischemic heart disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*prolapsed mitral valve &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
== Diagnostic Procedures ==&lt;br /&gt;
&lt;br /&gt;
===Diagnostic Definition===&lt;br /&gt;
&lt;br /&gt;
[[File:Turner Syndrome X Chromosome Variations.jpg|thumb|right|Figure 7: Variations of the Second X Chromosome in Turner Syndrome]]&lt;br /&gt;
TS is diagnosed through both an evaluation of physical features and by analysis of the second sex chromosome. The two criteria must be met for classification of TS, an abnormality in the second sex chromosome must be found and the abnormality must be found to be expressed somehow in the individual's traits. Hence if physical characteristics are not present even when the cytogenetic criterion is met the patient is not diagnosed as having TS.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; In TS the second sex chromosome is either:&lt;br /&gt;
&lt;br /&gt;
*Completely absent (45,X)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Partially absent&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
*Forms an isochromosome (isoXq), possessing a long arm duplication (q) and being devoid of a short arm (p)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*In a ring formation (rX)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
*Is devoid of the homeobox gene, [[#Glossary26 | '''SHOX''']] (short stature homeobox), the deletion being prior to the junction between Xp22.2 and Xp22.3&amp;lt;ref name=&amp;quot;PMID21325865&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
Any of these variations of the second sex chromosome may occur with or without cell line [[#Glossary20 | '''mosaicism''']].&lt;br /&gt;
TS may be diagnosed prenatally or postnatally, using this genetic diagnostic definition coupled with an appropriate phenotypic evaluation of the individual, as outlined below.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Prenatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
The prenatal diagnostic tool for TS is karyotype screening and testing for phenotype abnormalities. If TS is diagnosed prenatally, karyotype screening and an evaluation of the individual's traits should be conducted again postnatally for confirmation of this diagnosis. TS is frequently diagnosed after karyotype screening during [[#Glossary5 | '''chorionic villous sampling''']] or [[#Glossary2 | '''amniocentesis''']].&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
The table below outlines various prenatal tests conducted and the indications that may be present in babies with TS. Although these techniques and the indications they reveal may highlight TS signs, they should not be used as sole diagnostic tools.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Technique'''&lt;br /&gt;
| '''Turner syndrome indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Ultrasound'''&lt;br /&gt;
|&lt;br /&gt;
*Increased nuchal translucency &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary6 | '''Cystic hygroma''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Coarctation of the aorta &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Left-sided cardiac defects &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary3 | '''Brachycephaly''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Renal anomalies &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary23 | '''Polyhydramnios''']] &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary22 | '''Oligohydramnios''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Growth retardation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;10599686&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Turner Syndrome Test Showing Nuchal Translucency.gif|none|thumb|400px|Figure 8: Ultrasound Test Showing Nuchal Translucency.]]&lt;br /&gt;
[[File:Turner Syndrome Test Showing Cystic Hygroma.gif|none|thumb|400px|Figure 9: Ultrasound Test Showing Cystic Hygroma.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Maternal serum screening'''&lt;br /&gt;
|&lt;br /&gt;
*Abnormal [[#Glossary1 | '''α-fetoprotein''']] levels &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary16 | '''inhibin A''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary13 | '''hCG''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal unconjugated [[#Glossary9 | '''estriol''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
|[[File: TurnerSyndromeMaternalSerumSampling.jpg|none|thumb|400px|Figure 10: Maternal Serum Sampling.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Postnatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
In postnatal diagnosis, karyotype investigation is undertaken for the individual. When a female presents with the following clinical findings, explained in table below, it is recommended that chromosomal analysis is undertaken, so that TS may be eliminated&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;:&lt;br /&gt;
{|sstyle= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Age'''&lt;br /&gt;
| '''Phenotypic manifestations/indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Baby/infant'''&lt;br /&gt;
|&lt;br /&gt;
*Oedema of the hands or feet &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Nuchal folds &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Cardiac abnormalities for example aortic dilation, bicuspid aortic valve and aortic coarctation &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Low hairline &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Low set ears &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Small mandible &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Gonadal dysgenesis &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
|&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Child'''&lt;br /&gt;
| &lt;br /&gt;
*Short stature with low growth velocity &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Turned in elbows &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Nail [[#Glossary15 | '''hypoplasia''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Hyperconvex uplifted nails &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Multiple pigmented benign birthmarks/moles &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Characteristic faecies &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Short fourth metacarpal &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*High arched palate &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Extensive and chronic inflammation/infection of the ear &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Hearing loss &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 4 year old child.jpg|left|thumb|150px|Figure 11: Four-year-old girl with Turner syndrome. Note somewhat broad chest, prominent ears and ptosis, but otherwise normal proportion. There is no pronounced neck webbing or edema.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Adolescent/Adult'''&lt;br /&gt;
|&lt;br /&gt;
*Absence of breast development by 13 yr of age &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Pubertal arrest &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Primary or secondary amenorrhoea&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Unexplained short stature &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Renal abnormalities &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Immune disorders &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 35 year old woman.jpg|none|thumb|150px|Figure 12: A Thirty-five-year-old woman with Turner syndrome. Note increased carrying angle of arms, broad flat chest and sexual infantilism, but the lack of pronounced neck webbing or peripheral edema.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Since an absence of the physical signs of puberty and/or growth failure are often seen as normal variations in the population, these possible indications/symptoms of TS may not be further investigated by many clinicians.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20361125&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; When karyotyping in order to exclude natural cell variation, a sufficient number of cells should be assessed. Whilst a sample of blood will often reveal TS, an evaluation of a second tissue sample like the skin is recommend.&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
[[#Glossary7 | '''DNA hybridisation''']] or fluorescent in situ hybridisation should be conducted using a Y centromeric or short arm probe to detect for any additional Y or X chromosomal material.&lt;br /&gt;
If there is any of the Y chromosome present, this may initiate gonadoblastoma development, another primary indicator of TS. Hence the individual should have both a vaginal [[#Glossary28 | '''ultrasonograph''']] and colour [[#Glossary8 | '''Doppler sonograph''']] of their gonads to detect whether any Y chromosome fragments are present. These tests should be repeated regularly to monitor the patient for any malignancy, if a gonadectomy is not undertaken.&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Treatment ==&lt;br /&gt;
&lt;br /&gt;
=== Cardiac Treatment ===&lt;br /&gt;
&lt;br /&gt;
When patients are confirmed with TS, it is necessary to have a full cardiac evaulation including a physical exam and a echocardiogram. If cardiac abnormalities are found, monitoring by a cardiologist is recommended including regular blood pressure checks &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.   If no abnormalities are found, blood pressure in TS patients is still routinely checked and a follow up cardiac evaulation is recommended for girls around the age of puberty (12-15) &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. Coarctation of the aorta and hypoplastic left heart are quite often very serious issues which present in infancy&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt; which need to be dealt with surgically &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;. Aortic valves which are bicuspid rather than tricuspid are monitored regularly to ensure complications are found before they seriously effect the health of the patient. &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
=== Renal care ===&lt;br /&gt;
&lt;br /&gt;
Renal anomalies such as posteriorly rotated or horseshoe kidneys are assessed via an ultrasound to determine if any further treatment such as surgery or drug treatment is needed. This renal ultrasound is repeated again at the time the patient is handed over from the pediatic doctor to the adult specialist. &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
=== Liver function ===&lt;br /&gt;
&lt;br /&gt;
As abnormal liver function is highly prevelant in the TS community, liver function tests are performed when regular blood tests are performed. This is particularlly important test at the begining of puberty and when patients are transfered from their pediatrican to adult specialist to pick up any changes in liver enzymes, as raised levels may indicate the onset of cirrhosis of the liver&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
=== Speech and Feeding difficulties ===&lt;br /&gt;
Many TS patients have trouble with their speech. It is necessary for them to be refered to an Ear, Nose and Throat (ENT) specialist and to a speech therapist to work on improve any speech problems &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  TS infants also often suffer from feeding difficulties due to dysfunctional tongue movemnts, poor chewing skills and a highly arched palate. The ENT specialist and speech therapist may be able to help with improving chewing skills and settling down any difficulties &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Management of Puberty and Growth ===&lt;br /&gt;
&lt;br /&gt;
The main treatment for growth and pubertal development is Hormone Replacement Therapy. Growth Hormone is administered to girls with abnormal growth, resulting in postive growth that is consistent with the expected height of the patient. It is administered as early as 2 years of age, but more often in the age group of 9-12 which is in line with the growth spurt that occurs during puberty &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  &lt;br /&gt;
&lt;br /&gt;
Natural oestrogen and progesterone are administered to girls when they reach the age of puberty in early adolescence. The age at which this treatment commences varies between individuals, as does the dosage. The administration of oestrogen will begin the process of puberty in girls affected by TS and it is important that this begins around the same time as her peers &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;.The use of oestrogen is often held off if the patient is also undergoing GH treatment so that maximum growth can be achieved, as oestrogen will induce the fusion of the epiphyses and limit longitudinal bone growth &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  Around 10% of nonmosaic and 20% of mosaic women with TS will have spontaneous menses (periods) and may not need to undergo Hormone Replacement to initiate puberty. Around 2-5% of these women will have the potential to fall pregnant naturally &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
=== Appearance === &lt;br /&gt;
&lt;br /&gt;
Extreme neck webbing maybe worrying or uncomfortable to women with TS and in some cases plastic surgery such as Z-Plasty is undertaken to fix this problem. Surgery can however, leave scars which may further trouble patients and often advice is given to wear their hair long&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Foot problems are common in young girls with TS with short broad feet making it hard to buy and wear convential shoes&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;.Also if convex growth of toenails occurs, surgery is conducted so that the woman can wear normal shoes &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;. Referal to a podiatrist is necessary for correct up to date advice on foot care and for shoe fittings&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Ongoing Adult Treatment ===&lt;br /&gt;
&lt;br /&gt;
Closely monitoring the health of TS adults is vital in the reduction of morbidity and mortality. An annual physical evalution should be undertaken which includes, blood pressure, heart auscultation, thyroid function, breast exam, and pap smear&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. Particular attention needs to be taken in the area of weight and obesity in TS women due to their high risk of developing diabetes, osteoporosis and hypertension. Patients are to be encouraged to have a healthy lifestyle including healthy eating and exercise&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. Many TS women will need to undergo fertility treatment and in many cases need the assistance of an egg donation to fall pregnant. Counselling throughout this process is recommended as is the referal to a reproductive specialist with the patient feels ready to start a family &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Research ==&lt;br /&gt;
&lt;br /&gt;
===Current research===&lt;br /&gt;
&lt;br /&gt;
Since there is no preventative or cure, currently mainly research is being conducted into the areas of symptoms, possible treatments and risks involved with TS.&lt;br /&gt;
&lt;br /&gt;
'''Growth hormone therapy in Turner syndrome: its affect on height, weight and stature.'''&lt;br /&gt;
*'''Growth hormone effect on body composition in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21720878&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research findings from this paper conclude that people with TS have lower height, higher BMI and higher proportional sitting height and leg length than that of the normal population, no matter whether they undergo hormone replacement therapy or not.&lt;br /&gt;
*'''Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21619701&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study has concluded that all adults with TS had a similar quality of life regardless of whether they have a higher stature due to undergoing growth hormone replacement therapy or not. It was hypothesised that height differences did not affect quality of life as the individuals seemed to adapt to their own life challenges.&lt;br /&gt;
*'''Growth hormone treatment for Turner syndrome in Australia reveals that younger age and increased dose interact to improve response.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21375553&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research from this study found that growth hormone therapy works most optimally if given earlier in life and at a high dose in the first year of treatment.&lt;br /&gt;
*'''Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21398400&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: Another study which confers that the early introduction of growth hormone therapy is most efficacious. However the individual's glucose metabolism should be monitored as the hormones may affect glucose tolerance transiently.&lt;br /&gt;
&lt;br /&gt;
'''Oestrogen hormone replacement therapy in Turner syndrome: the adequate dosage and its effect on uterine development, breast development, bone mineral density and sexual characteristics.'''&lt;br /&gt;
*'''Growth hormone plus childhood low-dose oestrogen in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21449786&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study indicates that undergoing both growth hormone and oestrogen therapy together may help increase the efficacy of each (increasing growth in height and pubertal development) more than when they act alone. &lt;br /&gt;
*'''Oestrogen requirements in girls with Turner syndrome; how low is enough for initiating puberty and uterine development?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21793702&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study assessed the minimal dosage of oestrogen that is required to bring about desired pubertal development in girls with TS.&lt;br /&gt;
*'''Puberty induction in Turner syndrome: results of oestrogen treatment on development of secondary sexual characteristics, uterine dimensions and serum hormone levels.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19200215&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: It was found that uterus of women with TS who had undergone oestrogen was underdeveloped, however the exact cause of this needs to be further researched.&lt;br /&gt;
&lt;br /&gt;
'''Pregnancy and Turner syndrome: evaluation and treatment of risks involved with pregnancy for: the mothers of Turner syndrome babies, for individuals with Turner syndrome and for the babies of individuals with Turner syndrome.'''&lt;br /&gt;
*'''Familial occurrence of Turner syndrome: casual event or increased risk?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21648298&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research examined whether there is a higher probability of having a second child with Turner syndrome and concluded that there is evidence in the small cohort that they used of a greater probability. It is suggested that a larger study be conducted to look further into these findings.that &lt;br /&gt;
*'''Obstetric Outcomes in Women with Turner Karyotype.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21865365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: In this study it was found that women with TS had shorter pregnancies than that of a control group, but no other marked difference was observed between the groups.&lt;br /&gt;
*'''Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21496813&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This paper examined a number of pregnant women with TS, some who incidentally went through puberty even though they had no hormone replacement therapy and another group that had undertaken hormone replacement therapy. Though there were not many complications in either group, the groups were small in number and one mother did have cardiovascular difficulties later on in life. Hence a thorough examination of pregnant TS women should be conducted prior to conception.&lt;br /&gt;
*'''Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20923275&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This article assessed the prognosis of pregnant women with TS. They concluded that spontaneous pregnancy increases the risk of the baby having phenotypic and chromosomal abnormalities compared with women having assisted reproductive therapies.&lt;br /&gt;
&lt;br /&gt;
===Future research=== &lt;br /&gt;
&lt;br /&gt;
Future research needs to be conducted in the following areas: to follow up on the suggestions given in the conclusions of current research papers as outlined in the prior section and also into how the care system is functioning for TS individuals as outlined below.&lt;br /&gt;
&lt;br /&gt;
*'''Medical Care of Girls with Turner Syndrome: Where are we Lacking?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21454226&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research found that a large proportion (&amp;gt;50%) of people with TS are not given adequate information upon diagnosis or screenings for complications and symptoms. Therefore it is suggested in order to rectify this issue that more education should be given to physicians on the syndrome&lt;br /&gt;
*'''Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21752892&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; and '''Turner's syndrome requires multidisciplinary approach.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19514616&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: These article evaluate the need for a multidisciplinary approach to treatment of TS. Since the symptoms can be wide ranging and severe, it is difficult but necessary for all of them to be examined in each individual. Hence a greater care plan for individuals should be implemented upon diagnosis.&lt;br /&gt;
&lt;br /&gt;
== Related Pages ==&lt;br /&gt;
&lt;br /&gt;
*[[Genital System - Abnormalities]] : Other genital abnormalities are described here, which may assist in a differential diagnosis of TS.&lt;br /&gt;
&lt;br /&gt;
*[[X Chromosome]] : A more in depth description of the structure and role of the X chromosome.&lt;br /&gt;
&lt;br /&gt;
*[[Cell Division - Meiosis]] &amp;amp; [[Oocyte Development]]  : Examination of the process of meiosis and the developing oocyte, will assist in the comprehension of why and how there is and abnormality or absence of the X chromosome.&lt;br /&gt;
&lt;br /&gt;
*[[Menstrual Cycle]] : An abnormal menstrual cycle can often be an indicator of TS, hence this information on the normal menstrual pattern is helpful in understanding more about the symptoms and diagnosis of TS.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Glossary ==&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary1&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Alpha-fetoprotein''' is a protein with an unknown function. It makes up, up to one third of the protein serum levels found in the second trimester of pregnancy and in neural tube defects, these alpha-fetoprotein levels are elevated. &amp;lt;ref name=&amp;quot;McPherson&amp;quot;&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary2&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Amniocentesis''' is a prenatal diagnostic tool. The procedure involves the sampling of amniotic fluid from the amniotic sac using a syringe, that is then tested for a number of abnormalities. &amp;lt;ref name=&amp;quot;Moore&amp;quot;&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary3&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Brachycephaly''' is a condition where the coronal suture of the skull fuses prematurely. Since the skull is unable to expand any further in the anterior-posterior directions due to this closure, it grows to an abnormal size in in the lateral dimension.&amp;lt;ref&amp;gt;Flint, P 2010, ''Flint: Cummings Otolaryngology: Head &amp;amp; Neck Surgery, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-323-05283-2..00186-5--s0045&amp;amp;isbn=978-0-323-05283-2&amp;amp;uniqId=282726024-5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary4&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Coarctation''' of the aorta is an abnormality where the aorta is constricted at one or various sections. This can be caused by genetic and/or environmental factors.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary5&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Chorionic villous sampling''' is a prenatal diagnostic tool which can be used from 7 weeks after fertilisation. It is used to test for a number of chromosomal abnormalities including X-linked and metabolic disorders.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary6&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Cystic hygroma''' is a prenatal abnormality where fluid builds up in the posterior portion of the neck. The body may or may not relieve itself naturally of this accumulation of fluid after birth. &amp;lt;ref&amp;gt;Gabbe, S 2007, ''Gabbe: Obstetrics: Normal and Problem Pregnancies, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-443-06930-7..50011-6--cesec51&amp;amp;isbn=978-0-443-06930-7&amp;amp;uniqId=282726024-10&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary7&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''DNA-DNA hybridisation''' is a technique used to compare the similarities and differences between two sets of genes.&amp;lt;ref&amp;gt;Long, S 2009, ''Bradley: Neurology in Clinical Practice, 5th ed.Long: Principles and Practice of Pediatric Infectious Diseases Revised Reprint, 3rd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X&amp;amp;isbn=978-0-7020-3468-8&amp;amp;uniqId=282726024-19#4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary8&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Doppler sonography''' uses the doppler effect to help image and measure blood flow pattern in the patient.&amp;lt;ref name=&amp;quot;Bradley&amp;quot;&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary9&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Estriol''' is a hormone that is produced in greater amounts during pregnancy especially in the second and third trimester. One of its main functions is to assist with blood flow in the placenta and uterus.&amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary10&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Gametes''' are reproductive (sex) cells (ie: eggs and sperm) that can unite to form a new cell called a zygote. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6&amp;amp;isbn=978-0-443-06811-9&amp;amp;uniqId=283289096-4#4-u1.0-B978-0-443-06811-9..10001-6--b0020&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary11&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Gonadoblastoma''' is an abnormal proliferation of gonadal cells, that may or may not be malignant.&amp;lt;ref name=&amp;quot;Wein&amp;quot;&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary12&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Haploid''' is the status of a cell having only a single set of unpaired chromosomes, or half the number of chromosomes contained in typical body cells. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary13&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''hCG''' is the abbreviation for human chorionic gonadotropin. It is a hormone that functions in the early stage of pregnancy to maintain the blood supply to the corpus luteum.&amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary14&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Homologous chromosomes''' are pairs of chromosomes, one each obtained from maternal and paternal gametes.  46 total chromosome complements are within an organism, 22 pairs of which are homologous chromosomes (called autosomes); the other 2 chromosomes are the sex chromosomes. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary15&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Hypoplasia''' is when an organ or tissue is not completely developed.&amp;lt;ref name=&amp;quot;Wein&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary16&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Inhibin A''' is a peptide produced by the ovaries and acts to restrain the production of follicle-stimulating hormone.&amp;lt;ref&amp;gt;Melmed, S 2011, ''Melmed: Williams Textbook of Endocrinology, 12th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0324-5..00045-6&amp;amp;isbn=978-1-4377-0324-5&amp;amp;uniqId=282726024-25 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary17&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Karyotype''' is an individual's set of chromosomes, both their number and appearance.&amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary18&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Meiosis''' is the specific process of cell division within sex cells which halves the number of chromosomes in the cells through via two cell divisions; this is specific to germ cells only, creating haploid gametes (sex cells) from diploid cells. &amp;lt;ref name=&amp;quot;Moore2&amp;quot;&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary19&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Monosomy''' is a condition wherein a specific chromosome is completely missing within one gamete that combines with a normal gamete to form a zygote; a chromosome has no homologue, or matching chromosome, to pair with. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary20&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Mosaicism''' is when a particular type or all cells of an individual do not have the same genetic makeup. This is caused by a mutation during embryonic cell division.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary21&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Nondisjunction''' is the failure of chromosome pairs to separate entirely during either stage of Meiosis. &amp;lt;ref name=&amp;quot;Moore2&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary22&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Oligohydramnios''' is a prenatal condition, where there is an insufficient amount of amniotic fluid.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary23&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Polyhydramnios''' is a prenatal condition, where there is an excessive amount of amniotic fluid.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary24&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Random assortment''' is the idea first proposed by Gregor Mendel which states that pairs of alleles independently separate during the formation of gametes. &amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;   &lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary25&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Recombination''' is the process which by genetic material is crossed over and switched between two segments of DNA which adds to the genetic diversity of the genome.&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary26&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''SHOX gene''' is the short stature homeobox gene, that when deficient frequently results in short stature.&amp;lt;ref name=&amp;quot;PMID21325865&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary27&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Sister chromatids''' are 2 identical copies of a chromatin that are connected at a position in their center called a centromere. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;     &lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary28&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Ultrasonography''' is a medical technique that employs ultrasound frequencies to visualise a patient's internal bodily structure.&amp;lt;ref name=&amp;quot;Bradley&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== References ==&lt;br /&gt;
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{{2011Projects}}&lt;/div&gt;</summary>
		<author><name>Z3217043</name></author>
	</entry>
	<entry>
		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=77702</id>
		<title>2011 Group Project 1</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=77702"/>
		<updated>2011-10-12T23:52:01Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: /* Treatment */&lt;/p&gt;
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== Turner Syndrome ==&lt;br /&gt;
&lt;br /&gt;
== Introduction ==&lt;br /&gt;
&lt;br /&gt;
[[File:Karyotype.jpg|250px|thumb|right|Figure 1: The arrow indicates the presence of only one X chromosome in Karyotype &amp;lt;ref&amp;gt;www.ncbi.nlm.nih.gov/pmc/articles/PMC2910953/figure/F0002/&amp;lt;/ref&amp;gt;.]]&lt;br /&gt;
&lt;br /&gt;
Turner Syndrome (TS), named after Henry Hubert Turner who first described the syndrome in his paper in 1938,&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;4557013&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; is one of the most commonly occuring chromosomal disorders. It is caused by a complete or partial X [[#Glossary19 | '''monosomy''']] in some or all cells and occurs in approximately 1 in 2000 live births in females only. The morbidity rate of spontaneous abortions is 10% and only about 1% of fetuses survive to term. &lt;br /&gt;
&lt;br /&gt;
During normal fetal development, each ovary contain as many as 7 million oocytes. The oocytes gradually reduce to 400,000 during menarche, and during menopause fewer than 10,000 remain. However in TS, the ovaries develop normally during embryogenesis but the absence of the second X chromosome leads to an accelerated loss of oocytes, which is complete by the time the infant reaches 2 years of age. Genetically, menopause occurs before menarche and the ovaries are reduced to atrophic fibrous strands, devoid of ova and follicles (streak ovaries). Development of somatic (nongonadal) tissues that gentically resides on the missing or abnormal X chromosome are also severely affected. For example short stature is caused by a deletion of the Xp chromosome and the deletion of Xq causes gonadal dysfunction &amp;lt;ref&amp;gt;Pathologic Basis of Disease, 8th Ed. V. Kumar, R. Cotran &amp;amp; S Robbins (2007), Saunders &amp;amp; Co.&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The most frequent clinical features of TS are short stature and gonadal dysgenesis. Other features may include [[#Glossary4 | '''coarctation''']] of the aorta, renal anomalies, neck webbing and lymphoedema. People who have TS all vary in their clinical phenotype. In recent years there has been increased interest in TS due to the introduction of growth hormone treatment and there has been marked improvement in the understanding of this condition as advances in molecular genetic techniques occur. However, there is still need for further research as a multidisciplinary approach to treatment is vital in improving the quality of life of girls with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Epidemiology ==&lt;br /&gt;
&lt;br /&gt;
[[File:Stats abnormal.jpg|225px|thumb|left|Figure 2: The arrow indicates the presence of only one X chromosome in the karyotype &amp;lt;ref&amp;gt;www.ncbi.nlm.nih.gov/pmc/articles/PMC2910953/figure/F0002/&amp;lt;/ref&amp;gt;.]]&lt;br /&gt;
&lt;br /&gt;
TS affects about 1 in 2000 live-born females. There are three types of karyotypic abnormalities but the most frequently observed is the entire X chromosome deletion resulting in 45 X [[#Glossary17 | '''karyotype''']]. The remaining third have structural abnormalities of the X chromosomes and two thirds are mosaics, whereby, the maternal X is retained in two-thirds of women and the paternal X in the remainder.&lt;br /&gt;
&lt;br /&gt;
The phenotype of TS varies but involves anomalies of the sex chromosome. It could be caused by the limited amount of genetic material in these abnormal chromosomes. TS can be transmitted from mother to daughter, and thus could be described as a heredity linked syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The loss of one of the sex chromosomes in TS, occurs after the zygote has formed or just after the fusion of the [[#Glossary10 | '''gametes''']]. In 70-80% of cases the retained X chromosome is inherited from the mother. In such circumstances it has led to the different phenotypic expression of the genes present on the X chromosome depending if inherited from the maternally or paternally. The morphological differences from those retaining the maternal, compared to retaining the paternal X chromosome, have shown to have a greater incidence of cardiovascular anomalies and neck webbing. &lt;br /&gt;
&lt;br /&gt;
The missing sex chromosome could be either an X or a Y. This has clinical implications because if the Y material is present there is a risk of up to 30% of [[#Glossary11 | '''gonadoblastoma''']] developing in the dysgenetic gonads. This is because the 'gonadoblastoma locus' is located on the Y chromosome which is situated just below the centromere.&lt;br /&gt;
The inactivation of the abnormal X chromosomes is another cause that primarily affects hypogonadism phenotypically in females.  &amp;lt;ref&amp;gt;Wade, Nicholas (2009-09-15). '''&amp;quot;New Clues to Sex Anomalies in How Y Chromosomes Are Copied&amp;quot;'''. The New York Times. Retrieved 2010-05-26. http://www.nytimes.com/2009/09/15/science/15chrom.html?pagewanted=1&amp;amp;_r=1&amp;amp;hpw&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Etiology ==&lt;br /&gt;
[[File:nondisjunction.jpg|1000px|thumb|right|alt text|Figure 3: This figure shows the progeny created from normal disjunction (A), and non-disjunction during both Meiosis I (B) and Meiosis II (C).]]&lt;br /&gt;
&lt;br /&gt;
Causation of TS can be traced back to the stages of sex-cell development.  When sex cells divide through a process called [[#Glossary18 | '''meiosis''']] to create gametes, either a [[#Glossary12 | '''haploid''']] egg (for females) or sperm (for males) two divisions occur, Meiosis I and Meiosis II.  Meiosis is the main process which helps create the vast genetic diversity within all populations by allowing [[#Glossary25 | '''recombination''']] and [[#Glossary24 | '''random assortment''']].  During Meiosis I [[#Glossary14 | '''homologous chromosomes''']] are separated; following Meiosis I, [[#Glossary27 | '''sister chromatids''']] separate during Meiosis II.  If during either stage of Meiosis I or II the homologous chromosomes or sister chromatids, respectively, do not fully separate, a phenomenon can occur called [[#Glossary21 | '''nondisjunction''']].  Nondisjunction causes an uneven distribution of genetic material to each daughter nuclei.  When an uneven distribution is such that one of the gametes does not have any of a chromosome, it can combine with another normal gamete to create a fertilized egg with only one chromosome as opposed to the normal two that are found in human cells; this is called a monosomy.  When this occurs in the sex chromosomes leaving only a single X chromosome (X0 genotype) TS is created, leaving only 45 chromosomes in the zygote rather than the normal 46.  &lt;br /&gt;
&lt;br /&gt;
[[File:22+23=45.jpg|400px|thumb|right|Figure 4: 22 chromosomal egg + 23 chromosomal sperm = 45 chromsomes in zygote instead of normal 46.]]&lt;br /&gt;
&lt;br /&gt;
TS can also be created by partial monosomy or disjunctions, meaning that although a whole X chromosome is not missing, portions of it are not present or are non-functional, rendering the chromosome useless.  Any disjunction seems to be completely sporadic and have yet to be attributed to any genetic link. The only thing known for sure is that during conception a portion of or the whole second sex chromosome is not conveyed to the zygote.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;7763055&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; Because at least one X chromosome is necessary for vital functions, this condition can only be found in females.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Clinical Manifestations ==&lt;br /&gt;
&lt;br /&gt;
The following are a list of characteristics and diseases which tend to accompany, be caused by, or be related to TS.  &lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| &lt;br /&gt;
| '''Clinical Manifestations'''&lt;br /&gt;
| '''Related Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Physical Attributes'''&lt;br /&gt;
|&lt;br /&gt;
*congenital malformations (heart, urinary system, face, neck, ears) &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*gonadal dysgenesis (causes oestrogen deficiencies, which can cause infertility) &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*increased risk of fractures &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16624607&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low cortical bone mineral density (BMD) &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;/&amp;gt;&lt;br /&gt;
*middle ear infections &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*premature ovarian failure &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*short/reduced stature &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*webbed neck &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;17562588&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Webbed Neck.jpg|none|thumb|250px|Figure 5: An example of neck webbing.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Prone to Develop Autoimmune Conditions'''&lt;br /&gt;
|&lt;br /&gt;
*alopecia areata &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coeliac disease (CD) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12466343&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*psoriasis &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;/&amp;gt;&lt;br /&gt;
*thyroiditis &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*type 1 diabetes &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
|[[File:Psoriasis.jpg|none|thumb|250px|Figure 6: An example of a patient with psoriasis on their arm.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Decreased Cognition'''&lt;br /&gt;
|&lt;br /&gt;
*emotion processing difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;20014362&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*increased impulsivity &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;19750135&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low IQ score &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
*nonverbal learning disability (slow math calculations)&amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*social cognition difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*visuoperception/visuoconstruction deficit (identifying and locating is difficult due to poor visual working memory) &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Increased Risk of'''&lt;br /&gt;
|&lt;br /&gt;
*cirrhosis of the liver &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*colon and rectal cancers &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*hypothyroidism &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*inflammatory bowel disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
*morbidity and mortality &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*neurovascular disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*osteoporosis &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*ovarian failure &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*renal and gastrointestinal disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Cardiac Abnormalities''' (most serious/life threatening medical problems created by TS)&lt;br /&gt;
|&lt;br /&gt;
*absence of portal vein &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16612647&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*aortic dilatation and dissection  &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*arrhythmias &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;17015510&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*arteriosclerosis &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*biscuspid aortic valves &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*coarctation of the aorta &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*hypertension &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*ischemic heart disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*prolapsed mitral valve &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
== Diagnostic Procedures ==&lt;br /&gt;
&lt;br /&gt;
===Diagnostic Definition===&lt;br /&gt;
&lt;br /&gt;
[[File:Turner Syndrome X Chromosome Variations.jpg|thumb|right|Figure 7: Variations of the Second X Chromosome in Turner Syndrome]]&lt;br /&gt;
TS is diagnosed through both an evaluation of physical features and by analysis of the second sex chromosome. The two criteria must be met for classification of TS, an abnormality in the second sex chromosome must be found and the abnormality must be found to be expressed somehow in the individual's traits. Hence if physical characteristics are not present even when the cytogenetic criterion is met the patient is not diagnosed as having TS.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; In TS the second sex chromosome is either:&lt;br /&gt;
&lt;br /&gt;
*Completely absent (45,X)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Partially absent&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
*Forms an isochromosome (isoXq), possessing a long arm duplication (q) and being devoid of a short arm (p)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*In a ring formation (rX)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
*Is devoid of the homeobox gene, [[#Glossary26 | '''SHOX''']] (short stature homeobox), the deletion being prior to the junction between Xp22.2 and Xp22.3&amp;lt;ref name=&amp;quot;PMID21325865&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
Any of these variations of the second sex chromosome may occur with or without cell line [[#Glossary20 | '''mosaicism''']].&lt;br /&gt;
TS may be diagnosed prenatally or postnatally, using this genetic diagnostic definition coupled with an appropriate phenotypic evaluation of the individual, as outlined below.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Prenatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
The prenatal diagnostic tool for TS is karyotype screening and testing for phenotype abnormalities. If TS is diagnosed prenatally, karyotype screening and an evaluation of the individual's traits should be conducted again postnatally for confirmation of this diagnosis. TS is frequently diagnosed after karyotype screening during [[#Glossary5 | '''chorionic villous sampling''']] or [[#Glossary2 | '''amniocentesis''']].&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
The table below outlines various prenatal tests conducted and the indications that may be present in babies with TS. Although these techniques and the indications they reveal may highlight TS signs, they should not be used as sole diagnostic tools.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Technique'''&lt;br /&gt;
| '''Turner syndrome indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Ultrasound'''&lt;br /&gt;
|&lt;br /&gt;
*Increased nuchal translucency &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary6 | '''Cystic hygroma''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Coarctation of the aorta &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Left-sided cardiac defects &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary3 | '''Brachycephaly''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Renal anomalies &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary23 | '''Polyhydramnios''']] &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary22 | '''Oligohydramnios''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Growth retardation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;10599686&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Turner Syndrome Test Showing Nuchal Translucency.gif|none|thumb|400px|Figure 8: Ultrasound Test Showing Nuchal Translucency.]]&lt;br /&gt;
[[File:Turner Syndrome Test Showing Cystic Hygroma.gif|none|thumb|400px|Figure 9: Ultrasound Test Showing Cystic Hygroma.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Maternal serum screening'''&lt;br /&gt;
|&lt;br /&gt;
*Abnormal [[#Glossary1 | '''α-fetoprotein''']] levels &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary16 | '''inhibin A''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary13 | '''hCG''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal unconjugated [[#Glossary9 | '''estriol''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
|[[File: TurnerSyndromeMaternalSerumSampling.jpg|none|thumb|400px|Figure 10: Maternal Serum Sampling.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Postnatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
In postnatal diagnosis, karyotype investigation is undertaken for the individual. When a female presents with the following clinical findings, explained in table below, it is recommended that chromosomal analysis is undertaken, so that TS may be eliminated&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;:&lt;br /&gt;
{|sstyle= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Age'''&lt;br /&gt;
| '''Phenotypic manifestations/indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Baby/infant'''&lt;br /&gt;
|&lt;br /&gt;
*Oedema of the hands or feet &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Nuchal folds &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Cardiac abnormalities for example aortic dilation, bicuspid aortic valve and aortic coarctation &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Low hairline &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Low set ears &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Small mandible &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Gonadal dysgenesis &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
|&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Child'''&lt;br /&gt;
| &lt;br /&gt;
*Short stature with low growth velocity &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Turned in elbows &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Nail [[#Glossary15 | '''hypoplasia''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Hyperconvex uplifted nails &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Multiple pigmented benign birthmarks/moles &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Characteristic faecies &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Short fourth metacarpal &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*High arched palate &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Extensive and chronic inflammation/infection of the ear &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Hearing loss &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 4 year old child.jpg|left|thumb|150px|Figure 11: Four-year-old girl with Turner syndrome. Note somewhat broad chest, prominent ears and ptosis, but otherwise normal proportion. There is no pronounced neck webbing or edema.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Adolescent/Adult'''&lt;br /&gt;
|&lt;br /&gt;
*Absence of breast development by 13 yr of age &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Pubertal arrest &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Primary or secondary amenorrhoea&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Unexplained short stature &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Renal abnormalities &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Immune disorders &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 35 year old woman.jpg|none|thumb|150px|Figure 12: A Thirty-five-year-old woman with Turner syndrome. Note increased carrying angle of arms, broad flat chest and sexual infantilism, but the lack of pronounced neck webbing or peripheral edema.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Since an absence of the physical signs of puberty and/or growth failure are often seen as normal variations in the population, these possible indications/symptoms of TS may not be further investigated by many clinicians.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20361125&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; When karyotyping in order to exclude natural cell variation, a sufficient number of cells should be assessed. Whilst a sample of blood will often reveal TS, an evaluation of a second tissue sample like the skin is recommend.&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
[[#Glossary7 | '''DNA hybridisation''']] or fluorescent in situ hybridisation should be conducted using a Y centromeric or short arm probe to detect for any additional Y or X chromosomal material.&lt;br /&gt;
If there is any of the Y chromosome present, this may initiate gonadoblastoma development, another primary indicator of TS. Hence the individual should have both a vaginal [[#Glossary28 | '''ultrasonograph''']] and colour [[#Glossary8 | '''Doppler sonograph''']] of their gonads to detect whether any Y chromosome fragments are present. These tests should be repeated regularly to monitor the patient for any malignancy, if a gonadectomy is not undertaken.&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Treatment ==&lt;br /&gt;
&lt;br /&gt;
=== Cardiac Treatment ===&lt;br /&gt;
&lt;br /&gt;
When patients are confirmed with TS, it is necessary to have a full cardiac evaulation including a physical exam and a echocardiogram. If cardiac abnormalities are found, monitoring by a cardiologist is recommended including regular blood pressure checks &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.   If no abnormalities are found, blood pressure in TS patients is still routinely checked and a follow up cardiac evaulation is recommended for girls around the age of puberty (12-15) &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. Coarctation of the aorta and hypoplastic left heart are quite often very serious issues which present in infancy&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt; which need to be dealt with surgically &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;. Aortic valves which are bicuspid rather than tricuspid are monitored regularly to ensure complications are found before they seriously effect the health of the patient. &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
=== Renal care ===&lt;br /&gt;
&lt;br /&gt;
Renal anomalies such as posteriorly rotated or horseshoe kidneys are assessed via an ultrasound to determine if any further treatment such as surgery or drug treatment is needed. This renal ultrasound is repeated again at the time the patient is handed over from the pediatic doctor to the adult specialist. &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
=== Liver function ===&lt;br /&gt;
&lt;br /&gt;
As abnormal liver function is highly prevelant in the TS community, liver function tests are performed when regular blood tests are performed. This is particularlly important test at the begining of puberty and when patients are transfered from their pediatrican to adult specialist to pick up any changes in liver enzymes, as raised levels may indicate the onset of cirrhosis of the liver&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
=== Speech and Feeding difficulties ===&lt;br /&gt;
Many TS patients have trouble with their speech. It is necessary for them to be refered to an Ear, Nose and Throat (ENT) specialist and to a speech therapist to work on improve any speech problems &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  TS infants also often suffer from feeding difficulties due to dysfunctional tongue movemnts, poor chewing skills and a highly arched palate. The ENT specialist and speech therapist may be able to help with improving chewing skills and settling down any difficulties &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Management of Puberty and Growth ===&lt;br /&gt;
&lt;br /&gt;
The main treatment for growth and pubertal development is Hormone Replacement Therapy. Growth Hormone is administered to girls with abnormal growth, resulting in postive growth that is consistent with the expected height of the patient. It is administered as early as 2 years of age, but more often in the age group of 9-12 which is in line with the growth spurt that occurs during puberty &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  &lt;br /&gt;
&lt;br /&gt;
Natural oestrogen and progesterone are administered to girls when they reach the age of puberty in early adolescence. The age at which this treatment commences varies between individuals, as does the dosage. The administration of oestrogen will begin the process of puberty in girls affected by TS and it is important that this begins around the same time as her peers &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;.The use of oestrogen is often held off if the patient is also undergoing GH treatment so that maximum growth can be achieved, as oestrogen will induce the fusion of the epiphyses and limit longitudinal bone growth &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  Around 10% of nonmosaic and 20% of mosaic women with TS will have spontaneous menses (periods) and may not need to undergo Hormone Replacement to initiate puberty. Around 2-5% of these women will have the potential to fall pregnant naturally &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
=== Appearance === &lt;br /&gt;
&lt;br /&gt;
Extreme neck webbing maybe worrying or uncomfortable to women with TS and in some cases plastic surgery such as Z-Plasty is undertaken to fix this problem. Surgery can however, leave scars which may further trouble patients and often advice is given to wear their hair long&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Foot problems are common in young girls with TS with short broad feet making it hard to buy and wear convential shoes&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;.Also if convex growth of toenails occurs, surgery is conducted so that the woman can wear normal shoes &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;. Referal to a podiatrist is necessary for correct up to date advice on foot care and for shoe fittings&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Ongoing Adult Treatment ===&lt;br /&gt;
&lt;br /&gt;
Closely monitoring the health of TS adults is vital in the reduction of morbidity and mortality. An annual physical evalution should be undertaken which includes, blood pressure, heart auscultation, thyroid function, breast exam, and pap smear&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. Particular attention needs to be taken in the area of weight and obesity in TS women due to their high risk of developing diabetes, osteoporosis and hypertension. Patients are to be encouraged to have a healthy lifestyle including healthy eating and exercise&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. Many TS women will need to undergo fertility treatment and in many cases need the assistance of an egg donation to fall pregnant. Counselling throughout this process is recommended as is the referal to a reproductive specialist with the patient feels ready to start a family &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Research ==&lt;br /&gt;
&lt;br /&gt;
===Current research===&lt;br /&gt;
&lt;br /&gt;
Since there is no preventative or cure, currently mainly research is being conducted into the areas of symptoms, possible treatments and risks involved with TS.&lt;br /&gt;
&lt;br /&gt;
'''Growth hormone therapy in Turner syndrome: its affect on height, weight and stature.'''&lt;br /&gt;
*'''Growth hormone effect on body composition in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21720878&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research findings from this paper conclude that people with TS have lower height, higher BMI and higher proportional sitting height and leg length than that of the normal population, no matter whether they undergo hormone replacement therapy or not.&lt;br /&gt;
*'''Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21619701&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study has concluded that all adults with TS had a similar quality of life regardless of whether they have a higher stature due to undergoing growth hormone replacement therapy or not. It was hypothesised that height differences did not affect quality of life as the individuals seemed to adapt to their own life challenges.&lt;br /&gt;
*'''Growth hormone treatment for Turner syndrome in Australia reveals that younger age and increased dose interact to improve response.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21375553&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research from this study found that growth hormone therapy works most optimally if given earlier in life and at a high dose in the first year of treatment.&lt;br /&gt;
*'''Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21398400&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: Another study which confers that the early introduction of growth hormone therapy is most efficacious. However the individual's glucose metabolism should be monitored as the hormones may affect glucose tolerance transiently.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Oestrogen hormone replacement therapy in Turner syndrome: the adequate dosage and its effect on uterine development, breast development, bone mineral density and sexual characteristics.'''&lt;br /&gt;
*'''Growth hormone plus childhood low-dose oestrogen in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21449786&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study indicates that undergoing both growth hormone and oestrogen therapy together may help increase the efficacy of each (increasing growth in height and pubertal development) more than when they act alone. &lt;br /&gt;
*'''Oestrogen requirements in girls with Turner syndrome; how low is enough for initiating puberty and uterine development?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21793702&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study assessed the minimal dosage of oestrogen that is required to bring about desired pubertal development in girls with TS.&lt;br /&gt;
*'''Puberty induction in Turner syndrome: results of oestrogen treatment on development of secondary sexual characteristics, uterine dimensions and serum hormone levels.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19200215&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: It was found that uterus of women with TS who had undergone oestrogen was underdeveloped, however the exact cause of this needs to be further researched.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Pregnancy and Turner syndrome: evaluation and treatment of risks involved with pregnancy for: the mothers of Turner syndrome babies, for individuals with Turner syndrome and for the babies of individuals with Turner syndrome.'''&lt;br /&gt;
*'''Familial occurrence of Turner syndrome: casual event or increased risk?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21648298&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research examined whether there is a higher probability of having a second child with Turner syndrome and concluded that there is evidence in the small cohort that they used of a greater probability. It is suggested that a larger study be conducted to look further into these findings.that &lt;br /&gt;
*'''Obstetric Outcomes in Women with Turner Karyotype.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21865365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: In this study it was found that women with TS had shorter pregnancies than that of a control group, but no other marked difference was observed between the groups.&lt;br /&gt;
*'''Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21496813&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This paper examined a number of pregnant women with TS, some who incidentally went through puberty even though they had no hormone replacement therapy and another group that had undertaken hormone replacement therapy. Though there were not many complications in either group, the groups were small in number and one mother did have cardiovascular difficulties later on in life. Hence a thorough examination of pregnant TS women should be conducted prior to conception.&lt;br /&gt;
*'''Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20923275&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This article assessed the prognosis of pregnant women with TS. They concluded that spontaneous pregnancy increases the risk of the baby having phenotypic and chromosomal abnormalities compared with women having assisted reproductive therapies.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Future research=== &lt;br /&gt;
&lt;br /&gt;
Future research needs to be conducted in the following areas: to follow up on the suggestions given in the conclusions of current research papers as outlined in the prior section and also into how the care system is functioning for TS individuals as outlined below.&lt;br /&gt;
&lt;br /&gt;
*'''Medical Care of Girls with Turner Syndrome: Where are we Lacking?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21454226&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research found that a large proportion (&amp;gt;50%) of people with TS are not given adequate information upon diagnosis or screenings for complications and symptoms. Therefore it is suggested in order to rectify this issue that more education should be given to physicians on the syndrome&lt;br /&gt;
*'''Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21752892&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; and '''Turner's syndrome requires multidisciplinary approach.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19514616&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: These article evaluate the need for a multidisciplinary approach to treatment of TS. Since the symptoms can be wide ranging and severe, it is difficult but necessary for all of them to be examined in each individual. Hence a greater care plan for individuals should be implemented upon diagnosis.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Related Pages ==&lt;br /&gt;
&lt;br /&gt;
*[[Genital System - Abnormalities]] : Other genital abnormalities are described here, which may assist in a differential diagnosis of TS.&lt;br /&gt;
&lt;br /&gt;
*[[X Chromosome]] : A more in depth description of the structure and role of the X chromosome.&lt;br /&gt;
&lt;br /&gt;
*[[Cell Division - Meiosis]] &amp;amp; [[Oocyte Development]]  : Examination of the process of meiosis and the developing oocyte, will assist in the comprehension of why and how there is and abnormality or absence of the X chromosome.&lt;br /&gt;
&lt;br /&gt;
*[[Menstrual Cycle]] : An abnormal menstrual cycle can often be an indicator of TS, hence this information on the normal menstrual pattern is helpful in understanding more about the symptoms and diagnosis of TS.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Glossary ==&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary1&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Alpha-fetoprotein''' is a protein with an unknown function. It makes up, up to one third of the protein serum levels found in the second trimester of pregnancy and in neural tube defects, these alpha-fetoprotein levels are elevated. &amp;lt;ref name=&amp;quot;McPherson&amp;quot;&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary2&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Amniocentesis''' is a prenatal diagnostic tool. The procedure involves the sampling of amniotic fluid from the amniotic sac using a syringe, that is then tested for a number of abnormalities. &amp;lt;ref name=&amp;quot;Moore&amp;quot;&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary3&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Brachycephaly''' is a condition where the coronal suture of the skull fuses prematurely. Since the skull is unable to expand any further in the anterior-posterior directions due to this closure, it grows to an abnormal size in in the lateral dimension.&amp;lt;ref&amp;gt;Flint, P 2010, ''Flint: Cummings Otolaryngology: Head &amp;amp; Neck Surgery, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-323-05283-2..00186-5--s0045&amp;amp;isbn=978-0-323-05283-2&amp;amp;uniqId=282726024-5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary4&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Coarctation''' of the aorta is an abnormality where the aorta is constricted at one or various sections. This can be caused by genetic and/or environmental factors.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary5&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Chorionic villous sampling''' is a prenatal diagnostic tool which can be used from 7 weeks after fertilisation. It is used to test for a number of chromosomal abnormalities including X-linked and metabolic disorders.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary6&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Cystic hygroma''' is a prenatal abnormality where fluid builds up in the posterior portion of the neck. The body may or may not relieve itself naturally of this accumulation of fluid after birth. &amp;lt;ref&amp;gt;Gabbe, S 2007, ''Gabbe: Obstetrics: Normal and Problem Pregnancies, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-443-06930-7..50011-6--cesec51&amp;amp;isbn=978-0-443-06930-7&amp;amp;uniqId=282726024-10&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary7&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''DNA-DNA hybridisation''' is a technique used to compare the similarities and differences between two sets of genes.&amp;lt;ref&amp;gt;Long, S 2009, ''Bradley: Neurology in Clinical Practice, 5th ed.Long: Principles and Practice of Pediatric Infectious Diseases Revised Reprint, 3rd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X&amp;amp;isbn=978-0-7020-3468-8&amp;amp;uniqId=282726024-19#4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary8&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Doppler sonography''' uses the doppler effect to help image and measure blood flow pattern in the patient.&amp;lt;ref name=&amp;quot;Bradley&amp;quot;&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary9&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Estriol''' is a hormone that is produced in greater amounts during pregnancy especially in the second and third trimester. One of its main functions is to assist with blood flow in the placenta and uterus.&amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary10&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Gametes''' are reproductive (sex) cells (ie: eggs and sperm) that can unite to form a new cell called a zygote. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6&amp;amp;isbn=978-0-443-06811-9&amp;amp;uniqId=283289096-4#4-u1.0-B978-0-443-06811-9..10001-6--b0020&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary11&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Gonadoblastoma''' is an abnormal proliferation of gonadal cells, that may or may not be malignant.&amp;lt;ref name=&amp;quot;Wein&amp;quot;&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary12&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Haploid''' is the status of a cell having only a single set of unpaired chromosomes, or half the number of chromosomes contained in typical body cells. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary13&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''hCG''' is the abbreviation for human chorionic gonadotropin. It is a hormone that functions in the early stage of pregnancy to maintain the blood supply to the corpus luteum.&amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary14&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Homologous chromosomes''' are pairs of chromosomes, one each obtained from maternal and paternal gametes.  46 total chromosome complements are within an organism, 22 pairs of which are homologous chromosomes (called autosomes); the other 2 chromosomes are the sex chromosomes. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary15&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Hypoplasia''' is when an organ or tissue is not completely developed.&amp;lt;ref name=&amp;quot;Wein&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary16&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Inhibin A''' is a peptide produced by the ovaries and acts to restrain the production of follicle-stimulating hormone.&amp;lt;ref&amp;gt;Melmed, S 2011, ''Melmed: Williams Textbook of Endocrinology, 12th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0324-5..00045-6&amp;amp;isbn=978-1-4377-0324-5&amp;amp;uniqId=282726024-25 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary17&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Karyotype''' is an individual's set of chromosomes, both their number and appearance.&amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary18&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Meiosis''' is the specific process of cell division within sex cells which halves the number of chromosomes in the cells through via two cell divisions; this is specific to germ cells only, creating haploid gametes (sex cells) from diploid cells. &amp;lt;ref name=&amp;quot;Moore2&amp;quot;&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary19&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Monosomy''' is a condition wherein a specific chromosome is completely missing within one gamete that combines with a normal gamete to form a zygote; a chromosome has no homologue, or matching chromosome, to pair with. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary20&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Mosaicism''' is when a particular type or all cells of an individual do not have the same genetic makeup. This is caused by a mutation during embryonic cell division.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary21&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Nondisjunction''' is the failure of chromosome pairs to separate entirely during either stage of Meiosis. &amp;lt;ref name=&amp;quot;Moore2&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary22&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Oligohydramnios''' is a prenatal condition, where there is an insufficient amount of amniotic fluid.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary23&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Polyhydramnios''' is a prenatal condition, where there is an excessive amount of amniotic fluid.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary24&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Random assortment''' is the idea first proposed by Gregor Mendel which states that pairs of alleles independently separate during the formation of gametes. &amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;   &lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary25&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Recombination''' is the process which by genetic material is crossed over and switched between two segments of DNA which adds to the genetic diversity of the genome.&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary26&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''SHOX gene''' is the short stature homeobox gene, that when deficient frequently results in short stature.&amp;lt;ref name=&amp;quot;PMID21325865&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary27&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Sister chromatids''' are 2 identical copies of a chromatin that are connected at a position in their center called a centromere. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;     &lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary28&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Ultrasonography''' is a medical technique that employs ultrasound frequencies to visualise a patient's internal bodily structure.&amp;lt;ref name=&amp;quot;Bradley&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== References ==&lt;br /&gt;
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&amp;lt;references/&amp;gt;&lt;br /&gt;
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{{2011Projects}}&lt;/div&gt;</summary>
		<author><name>Z3217043</name></author>
	</entry>
	<entry>
		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=77645</id>
		<title>2011 Group Project 1</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=77645"/>
		<updated>2011-10-12T23:17:12Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: /* Treatment */&lt;/p&gt;
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&lt;div&gt;{{2011ProjectsMH}}&lt;br /&gt;
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== Turner Syndrome ==&lt;br /&gt;
&lt;br /&gt;
== Introduction ==&lt;br /&gt;
&lt;br /&gt;
[[File:Karyotype.jpg|250px|thumb|right|Figure 1: The arrow indicates the presence of only one X chromosome in Karyotype &amp;lt;ref&amp;gt;www.ncbi.nlm.nih.gov/pmc/articles/PMC2910953/figure/F0002/&amp;lt;/ref&amp;gt;.]]&lt;br /&gt;
&lt;br /&gt;
Turner Syndrome (TS), named after Henry Hubert Turner who first described the syndrome in his paper in 1938,&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;4557013&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; is one of the most commonly occuring chromosomal disorders. It is caused by a complete or partial X [[#Glossary19 | '''monosomy''']] in some or all cells and occurs in approximately 1 in 2000 live births in females only. The morbidity rate of spontaneous abortions is 10% and only about 1% of fetuses survive to term. &lt;br /&gt;
&lt;br /&gt;
During normal fetal development, each ovary contain as many as 7 million oocytes. The oocytes gradually reduce to 400,000 during menarche, and during menopause fewer than 10,000 remain. However in TS, the ovaries develop normally during embryogenesis but the absence of the second X chromosome leads to an accelerated loss of oocytes, which is complete by the time the infant reaches 2 years of age. Genetically, menopause occurs before menarche and the ovaries are reduced to atrophic fibrous strands, devoid of ova and follicles (streak ovaries). Development of somatic (nongonadal) tissues that gentically resides on the missing or abnormal X chromosome are also severely affected. For example short stature is caused by a deletion of the Xp chromosome and the deletion of Xq causes gonadal dysfunction &amp;lt;ref&amp;gt;Pathologic Basis of Disease, 8th Ed. V. Kumar, R. Cotran &amp;amp; S Robbins (2007), Saunders &amp;amp; Co.&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The most frequent clinical features of TS are short stature and gonadal dysgenesis. Other features may include [[#Glossary4 | '''coarctation''']] of the aorta, renal anomalies, neck webbing and lymphoedema. People who have TS all vary in their clinical phenotype. In recent years there has been increased interest in TS due to the introduction of growth hormone treatment and there has been marked improvement in the understanding of this condition as advances in molecular genetic techniques occur. However, there is still need for further research as a multidisciplinary approach to treatment is vital in improving the quality of life of girls with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Epidemiology ==&lt;br /&gt;
&lt;br /&gt;
[[File:Stats abnormal.jpg|225px|thumb|left|Figure 2: The arrow indicates the presence of only one X chromosome in the karyotype &amp;lt;ref&amp;gt;www.ncbi.nlm.nih.gov/pmc/articles/PMC2910953/figure/F0002/&amp;lt;/ref&amp;gt;.]]&lt;br /&gt;
&lt;br /&gt;
TS affects about 1 in 2000 live-born females. There are three types of karyotypic abnormalities but the most frequently observed is the entire X chromosome deletion resulting in 45 X [[#Glossary17 | '''karyotype''']]. The remaining third have structural abnormalities of the X chromosomes and two thirds are mosaics, whereby, the maternal X is retained in two-thirds of women and the paternal X in the remainder.&lt;br /&gt;
&lt;br /&gt;
The phenotype of TS varies but involves anomalies of the sex chromosome. It could be caused by the limited amount of genetic material in these abnormal chromosomes. TS can be transmitted from mother to daughter, and thus could be described as a heredity linked syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The loss of one of the sex chromosomes in TS, occurs after the zygote has formed or just after the fusion of the [[#Glossary10 | '''gametes''']]. In 70-80% of cases the retained X chromosome is inherited from the mother. In such circumstances it has led to the different phenotypic expression of the genes present on the X chromosome depending if inherited from the maternally or paternally. The morphological differences from those retaining the maternal, compared to retaining the paternal X chromosome, have shown to have a greater incidence of cardiovascular anomalies and neck webbing. &lt;br /&gt;
&lt;br /&gt;
The missing sex chromosome could be either an X or a Y. This has clinical implications because if the Y material is present there is a risk of up to 30% of [[#Glossary11 | '''gonadoblastoma''']] developing in the dysgenetic gonads. This is because the 'gonadoblastoma locus' is located on the Y chromosome which is situated just below the centromere.&lt;br /&gt;
The inactivation of the abnormal X chromosomes is another cause that primarily affects hypogonadism phenotypically in females.  &amp;lt;ref&amp;gt;Wade, Nicholas (2009-09-15). '''&amp;quot;New Clues to Sex Anomalies in How Y Chromosomes Are Copied&amp;quot;'''. The New York Times. Retrieved 2010-05-26. http://www.nytimes.com/2009/09/15/science/15chrom.html?pagewanted=1&amp;amp;_r=1&amp;amp;hpw&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Etiology ==&lt;br /&gt;
[[File:nondisjunction.jpg|1000px|thumb|right|alt text|Figure 3: This figure shows the progeny created from normal disjunction (A), and non-disjunction during both Meiosis I (B) and Meiosis II (C).]]&lt;br /&gt;
&lt;br /&gt;
Causation of TS can be traced back to the stages of sex-cell development.  When sex cells divide through a process called [[#Glossary18 | '''meiosis''']] to create gametes, either a [[#Glossary12 | '''haploid''']] egg (for females) or sperm (for males) two divisions occur, Meiosis I and Meiosis II.  Meiosis is the main process which helps create the vast genetic diversity within all populations by allowing [[#Glossary25 | '''recombination''']] and [[#Glossary24 | '''random assortment''']].  During Meiosis I [[#Glossary14 | '''homologous chromosomes''']] are separated; following Meiosis I, [[#Glossary27 | '''sister chromatids''']] separate during Meiosis II.  If during either stage of Meiosis I or II the homologous chromosomes or sister chromatids, respectively, do not fully separate, a phenomenon can occur called [[#Glossary21 | '''nondisjunction''']].  Nondisjunction causes an uneven distribution of genetic material to each daughter nuclei.  When an uneven distribution is such that one of the gametes does not have any of a chromosome, it can combine with another normal gamete to create a fertilized egg with only one chromosome as opposed to the normal two that are found in human cells; this is called a monosomy.  When this occurs in the sex chromosomes leaving only a single X chromosome (X0 genotype) TS is created, leaving only 45 chromosomes in the zygote rather than the normal 46.  &lt;br /&gt;
&lt;br /&gt;
[[File:22+23=45.jpg|400px|thumb|right|Figure 4: 22 chromosomal egg + 23 chromosomal sperm = 45 chromsomes in zygote instead of normal 46.]]&lt;br /&gt;
&lt;br /&gt;
TS can also be created by partial monosomy or disjunctions, meaning that although a whole X chromosome is not missing, portions of it are not present or are non-functional, rendering the chromosome useless.  Any disjunction seems to be completely sporadic and have yet to be attributed to any genetic link. The only thing known for sure is that during conception a portion of or the whole second sex chromosome is not conveyed to the zygote.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;7763055&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; Because at least one X chromosome is necessary for vital functions, this condition can only be found in females.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Clinical Manifestations ==&lt;br /&gt;
&lt;br /&gt;
The following are a list of characteristics and diseases which tend to accompany, be caused by, or be related to TS.  &lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| &lt;br /&gt;
| '''Clinical Manifestations'''&lt;br /&gt;
| '''Related Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Physical Attributes'''&lt;br /&gt;
|&lt;br /&gt;
*congenital malformations (heart, urinary system, face, neck, ears) &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*gonadal dysgenesis (causes oestrogen deficiencies, which can cause infertility) &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*increased risk of fractures &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16624607&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low cortical bone mineral density (BMD) &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;/&amp;gt;&lt;br /&gt;
*middle ear infections &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*premature ovarian failure &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*short/reduced stature &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*webbed neck &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;17562588&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Webbed Neck.jpg|none|thumb|250px|Figure 5: An example of neck webbing.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Prone to Develop Autoimmune Conditions'''&lt;br /&gt;
|&lt;br /&gt;
*alopecia areata &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coeliac disease (CD) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12466343&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*psoriasis &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;/&amp;gt;&lt;br /&gt;
*thyroiditis &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*type 1 diabetes &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
|[[File:Psoriasis.jpg|none|thumb|250px|Figure 6: An example of a patient with psoriasis on their arm.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Decreased Cognition'''&lt;br /&gt;
|&lt;br /&gt;
*emotion processing difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;20014362&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*increased impulsivity &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;19750135&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low IQ score &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
*nonverbal learning disability (slow math calculations)&amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*social cognition difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*visuoperception/visuoconstruction deficit (identifying and locating is difficult due to poor visual working memory) &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Increased Risk of'''&lt;br /&gt;
|&lt;br /&gt;
*cirrhosis of the liver &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*colon and rectal cancers &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*hypothyroidism &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*inflammatory bowel disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
*morbidity and mortality &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*neurovascular disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*osteoporosis &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*ovarian failure &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*renal and gastrointestinal disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Cardiac Abnormalities''' (most serious/life threatening medical problems created by TS)&lt;br /&gt;
|&lt;br /&gt;
*absence of portal vein &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16612647&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*aortic dilatation and dissection  &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*arrhythmias &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;17015510&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*arteriosclerosis &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*biscuspid aortic valves &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*coarctation of the aorta &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*hypertension &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*ischemic heart disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*prolapsed mitral valve &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
== Diagnostic Procedures ==&lt;br /&gt;
&lt;br /&gt;
===Diagnostic Definition===&lt;br /&gt;
&lt;br /&gt;
[[File:Turner Syndrome X Chromosome Variations.jpg|thumb|right|Figure 7: Variations of the Second X Chromosome in Turner Syndrome]]&lt;br /&gt;
TS is diagnosed through both an evaluation of physical features and by analysis of the second sex chromosome. The two criteria must be met for classification of TS, an abnormality in the second sex chromosome must be found and the abnormality must be found to be expressed somehow in the individual's traits. Hence if physical characteristics are not present even when the cytogenetic criterion is met the patient is not diagnosed as having TS.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; In TS the second sex chromosome is either:&lt;br /&gt;
&lt;br /&gt;
*Completely absent (45,X)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Partially absent&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
*Forms an isochromosome (isoXq), possessing a long arm duplication (q) and being devoid of a short arm (p)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*In a ring formation (rX)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
*Is devoid of the homeobox gene, [[#Glossary26 | '''SHOX''']] (short stature homeobox), the deletion being prior to the junction between Xp22.2 and Xp22.3&amp;lt;ref name=&amp;quot;PMID21325865&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
Any of these variations of the second sex chromosome may occur with or without cell line [[#Glossary20 | '''mosaicism''']].&lt;br /&gt;
TS may be diagnosed prenatally or postnatally, using this genetic diagnostic definition coupled with an appropriate phenotypic evaluation of the individual, as outlined below.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Prenatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
The prenatal diagnostic tool for TS is karyotype screening and testing for phenotype abnormalities. If TS is diagnosed prenatally, karyotype screening and an evaluation of the individual's traits should be conducted again postnatally for confirmation of this diagnosis. TS is frequently diagnosed after karyotype screening during [[#Glossary5 | '''chorionic villous sampling''']] or [[#Glossary2 | '''amniocentesis''']].&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
The table below outlines various prenatal tests conducted and the indications that may be present in babies with TS. Although these techniques and the indications they reveal may highlight TS signs, they should not be used as sole diagnostic tools.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Technique'''&lt;br /&gt;
| '''Turner syndrome indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Ultrasound'''&lt;br /&gt;
|&lt;br /&gt;
*Increased nuchal translucency &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary6 | '''Cystic hygroma''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Coarctation of the aorta &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Left-sided cardiac defects &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary3 | '''Brachycephaly''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Renal anomalies &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary23 | '''Polyhydramnios''']] &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary22 | '''Oligohydramnios''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Growth retardation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;10599686&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Turner Syndrome Test Showing Nuchal Translucency.gif|none|thumb|400px|Figure 8: Ultrasound Test Showing Nuchal Translucency.]]&lt;br /&gt;
[[File:Turner Syndrome Test Showing Cystic Hygroma.gif|none|thumb|400px|Figure 9: Ultrasound Test Showing Cystic Hygroma.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Maternal serum screening'''&lt;br /&gt;
|&lt;br /&gt;
*Abnormal [[#Glossary1 | '''α-fetoprotein''']] levels &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary16 | '''inhibin A''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary13 | '''hCG''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal unconjugated [[#Glossary9 | '''estriol''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
|[[File: TurnerSyndromeMaternalSerumSampling.jpg|none|thumb|400px|Figure 10: Maternal Serum Sampling.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Postnatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
In postnatal diagnosis, karyotype investigation is undertaken for the individual. When a female presents with the following clinical findings, explained in table below, it is recommended that chromosomal analysis is undertaken, so that TS may be eliminated&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;:&lt;br /&gt;
{|sstyle= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Age'''&lt;br /&gt;
| '''Phenotypic manifestations/indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Baby/infant'''&lt;br /&gt;
|&lt;br /&gt;
*Oedema of the hands or feet &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Nuchal folds &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Cardiac abnormalities for example aortic dilation, bicuspid aortic valve and aortic coarctation &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Low hairline &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Low set ears &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Small mandible &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Gonadal dysgenesis &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
|&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Child'''&lt;br /&gt;
| &lt;br /&gt;
*Short stature with low growth velocity &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Turned in elbows &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Nail [[#Glossary15 | '''hypoplasia''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Hyperconvex uplifted nails &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Multiple pigmented benign birthmarks/moles &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Characteristic faecies &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Short fourth metacarpal &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*High arched palate &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Extensive and chronic inflammation/infection of the ear &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Hearing loss &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 4 year old child.jpg|left|thumb|150px|Figure 11: Four-year-old girl with Turner syndrome. Note somewhat broad chest, prominent ears and ptosis, but otherwise normal proportion. There is no pronounced neck webbing or edema.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Adolescent/Adult'''&lt;br /&gt;
|&lt;br /&gt;
*Absence of breast development by 13 yr of age &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Pubertal arrest &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Primary or secondary amenorrhoea&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Unexplained short stature &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Renal abnormalities &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Immune disorders &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 35 year old woman.jpg|none|thumb|150px|Figure 12: A Thirty-five-year-old woman with Turner syndrome. Note increased carrying angle of arms, broad flat chest and sexual infantilism, but the lack of pronounced neck webbing or peripheral edema.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Since an absence of the physical signs of puberty and/or growth failure are often seen as normal variations in the population, these possible indications/symptoms of TS may not be further investigated by many clinicians.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20361125&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; When karyotyping in order to exclude natural cell variation, a sufficient number of cells should be assessed. Whilst a sample of blood will often reveal TS, an evaluation of a second tissue sample like the skin is recommend.&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
[[#Glossary7 | '''DNA hybridisation''']] or fluorescent in situ hybridisation should be conducted using a Y centromeric or short arm probe to detect for any additional Y or X chromosomal material.&lt;br /&gt;
If there is any of the Y chromosome present, this may initiate gonadoblastoma development, another primary indicator of TS. Hence the individual should have both a vaginal [[#Glossary28 | '''ultrasonograph''']] and colour [[#Glossary8 | '''Doppler sonograph''']] of their gonads to detect whether any Y chromosome fragments are present. These tests should be repeated regularly to monitor the patient for any malignancy, if a gonadectomy is not undertaken.&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Treatment ==&lt;br /&gt;
&lt;br /&gt;
=== Cardiac Treatment ===&lt;br /&gt;
&lt;br /&gt;
When patients are confirmed with TS, it is necessary to have a full cardiac evaulation including a physical exam and a echocardiogram. If cardiac abnormalities are found, monitoring by a cardiologist is recommended including regular blood pressure checks&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  Coarctation of the aorta and hypoplastic left heart are quite often very serious issues are need to be dealt with surgically&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
If no abnormalities are found, blood pressure in TS patients is still routinely checked and a follow up cardiac evaulation is recommended for girls around the age of puberty (12-15)&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Speech ===&lt;br /&gt;
&lt;br /&gt;
Many TS patients have trouble with their speech. It is necessary for them to be refered to an Ear, Nose and Throat specialist and to a speech therapist to work on improve any speech problems&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Management of Puberty and Growth ===&lt;br /&gt;
The main treatment for growth and pubertal development is Hormone Replacement Therapy. Growth Hormone is administered to girls with abnormal growth, resulting in postive growth that is consistent with the expected height of the patient. It is administered as early as 2 years of age, but more often in the age group of 9-12 which is in line with the growth spurt that occurs during puberty&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Natural oestrogen and progesterone are administered to girls when they reach the age of puberty in early adolescence. The age at which this treatment commences varies between individuals, as does the dosage. The administration of oestrogen will begin the process of puberty in girls affected by TS and it is important that this begins around the same time as her peers&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;. The use of oestrogen is often held off if the patient is also undergoing GH treatment so that maximum growth can be achieved, as oestrogen will induce the fusion of the epiphyses and limit longitudinal bone growth&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Around 10% of nonmosaic and 20% of mosaic women with TS will have spontaneous menses (periods) and may not need to undergo Hormone Replacement to initiate puberty. Around 2-5% of these women will have the potential to fall pregnant naturally&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
=== Appearance ===&lt;br /&gt;
&lt;br /&gt;
Extreme neck webbing maybe worrying or uncomfortable to women with TS and in some cases plastic surgery is undertaken to fix this problem. Also if convex gorwth of toenails occurs, surgery is conducted so that the woman can wear normal shoes&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Ongoing Adult Treatment ===&lt;br /&gt;
&lt;br /&gt;
Closely monitoring the health of TS adults is vital in the reduction of morbidity and mortality. An annual physical evalution should be undertaken which includes, blood pressure, heart auscultation, thyroid function, breast exam, and pap smear&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  &lt;br /&gt;
&lt;br /&gt;
Particular attention needs to be taken in the area of weight and obesity in TS women due to their high risk of developing diabetes, osteoporosis and hypertension. Patients are to be encouraged to have a healthy lifestyle including healthy eating and exercise&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Research ==&lt;br /&gt;
&lt;br /&gt;
===Current research===&lt;br /&gt;
&lt;br /&gt;
Since there is no preventative or cure, currently mainly research is being conducted into the areas of symptoms, possible treatments and risks involved with TS.&lt;br /&gt;
&lt;br /&gt;
'''Growth hormone therapy in Turner syndrome: its affect on height, weight and stature.'''&lt;br /&gt;
*'''Growth hormone effect on body composition in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21720878&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research findings from this paper conclude that people with TS have lower height, higher BMI and higher proportional sitting height and leg length than that of the normal population, no matter whether they undergo hormone replacement therapy or not.&lt;br /&gt;
*'''Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21619701&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study has concluded that all adults with TS had a similar quality of life regardless of whether they have a higher stature due to undergoing growth hormone replacement therapy or not. It was hypothesised that height differences did not affect quality of life as the individuals seemed to adapt to their own life challenges.&lt;br /&gt;
*'''Growth hormone treatment for Turner syndrome in Australia reveals that younger age and increased dose interact to improve response.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21375553&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research from this study found that growth hormone therapy works most optimally if given earlier in life and at a high dose in the first year of treatment.&lt;br /&gt;
*'''Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21398400&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: Another study which confers that the early introduction of growth hormone therapy is most efficacious. However the individual's glucose metabolism should be monitored as the hormones may affect glucose tolerance transiently.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Oestrogen hormone replacement therapy in Turner syndrome: the adequate dosage and its effect on uterine development, breast development, bone mineral density and sexual characteristics.'''&lt;br /&gt;
*'''Growth hormone plus childhood low-dose oestrogen in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21449786&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study indicates that undergoing both growth hormone and oestrogen therapy together may help increase the efficacy of each (increasing growth in height and pubertal development) more than when they act alone. &lt;br /&gt;
*'''Oestrogen requirements in girls with Turner syndrome; how low is enough for initiating puberty and uterine development?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21793702&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study assessed the minimal dosage of oestrogen that is required to bring about desired pubertal development in girls with TS.&lt;br /&gt;
*'''Puberty induction in Turner syndrome: results of oestrogen treatment on development of secondary sexual characteristics, uterine dimensions and serum hormone levels.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19200215&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: It was found that uterus of women with TS who had undergone oestrogen was underdeveloped, however the exact cause of this needs to be further researched.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Pregnancy and Turner syndrome: evaluation and treatment of risks involved with pregnancy for: the mothers of Turner syndrome babies, for individuals with Turner syndrome and for the babies of individuals with Turner syndrome.'''&lt;br /&gt;
*'''Familial occurrence of Turner syndrome: casual event or increased risk?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21648298&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research examined whether there is a higher probability of having a second child with Turner syndrome and concluded that there is evidence in the small cohort that they used of a greater probability. It is suggested that a larger study be conducted to look further into these findings.that &lt;br /&gt;
*'''Obstetric Outcomes in Women with Turner Karyotype.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21865365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: In this study it was found that women with TS had shorter pregnancies than that of a control group, but no other marked difference was observed between the groups.&lt;br /&gt;
*'''Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21496813&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This paper examined a number of pregnant women with TS, some who incidentally went through puberty even though they had no hormone replacement therapy and another group that had undertaken hormone replacement therapy. Though there were not many complications in either group, the groups were small in number and one mother did have cardiovascular difficulties later on in life. Hence a thorough examination of pregnant TS women should be conducted prior to conception.&lt;br /&gt;
*'''Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20923275&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This article assessed the prognosis of pregnant women with TS. They concluded that spontaneous pregnancy increases the risk of the baby having phenotypic and chromosomal abnormalities compared with women having assisted reproductive therapies.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Future research=== &lt;br /&gt;
&lt;br /&gt;
Future research needs to be conducted in the following areas: to follow up on the suggestions given in the conclusions of current research papers as outlined in the prior section and also into how the care system is functioning for TS individuals as outlined below.&lt;br /&gt;
&lt;br /&gt;
*'''Medical Care of Girls with Turner Syndrome: Where are we Lacking?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21454226&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research found that a large proportion (&amp;gt;50%) of people with TS are not given adequate information upon diagnosis or screenings for complications and symptoms. Therefore it is suggested in order to rectify this issue that more education should be given to physicians on the syndrome&lt;br /&gt;
*'''Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21752892&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; and '''Turner's syndrome requires multidisciplinary approach.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19514616&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: These article evaluate the need for a multidisciplinary approach to treatment of TS. Since the symptoms can be wide ranging and severe, it is difficult but necessary for all of them to be examined in each individual. Hence a greater care plan for individuals should be implemented upon diagnosis.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Related Pages ==&lt;br /&gt;
&lt;br /&gt;
*[[Genital System - Abnormalities]] : Other genital abnormalities are described here, which may assist in a differential diagnosis of TS.&lt;br /&gt;
&lt;br /&gt;
*[[X Chromosome]] : A more in depth description of the structure and role of the X chromosome.&lt;br /&gt;
&lt;br /&gt;
*[[Cell Division - Meiosis]] &amp;amp; [[Oocyte Development]]  : Examination of the process of meiosis and the developing oocyte, will assist in the comprehension of why and how there is and abnormality or absence of the X chromosome.&lt;br /&gt;
&lt;br /&gt;
*[[Menstrual Cycle]] : An abnormal menstrual cycle can often be an indicator of TS, hence this information on the normal menstrual pattern is helpful in understanding more about the symptoms and diagnosis of TS.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Glossary ==&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary1&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Alpha-fetoprotein''' is a protein with an unknown function. It makes up, up to one third of the protein serum levels found in the second trimester of pregnancy and in neural tube defects, these alpha-fetoprotein levels are elevated. &amp;lt;ref name=&amp;quot;McPherson&amp;quot;&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary2&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Amniocentesis''' is a prenatal diagnostic tool. The procedure involves the sampling of amniotic fluid from the amniotic sac using a syringe, that is then tested for a number of abnormalities. &amp;lt;ref name=&amp;quot;Moore&amp;quot;&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary3&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Brachycephaly''' is a condition where the coronal suture of the skull fuses prematurely. Since the skull is unable to expand any further in the anterior-posterior directions due to this closure, it grows to an abnormal size in in the lateral dimension.&amp;lt;ref&amp;gt;Flint, P 2010, ''Flint: Cummings Otolaryngology: Head &amp;amp; Neck Surgery, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-323-05283-2..00186-5--s0045&amp;amp;isbn=978-0-323-05283-2&amp;amp;uniqId=282726024-5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary4&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Coarctation''' of the aorta is an abnormality where the aorta is constricted at one or various sections. This can be caused by genetic and/or environmental factors.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary5&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Chorionic villous sampling''' is a prenatal diagnostic tool which can be used from 7 weeks after fertilisation. It is used to test for a number of chromosomal abnormalities including X-linked and metabolic disorders.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary6&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Cystic hygroma''' is a prenatal abnormality where fluid builds up in the posterior portion of the neck. The body may or may not relieve itself naturally of this accumulation of fluid after birth. &amp;lt;ref&amp;gt;Gabbe, S 2007, ''Gabbe: Obstetrics: Normal and Problem Pregnancies, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-443-06930-7..50011-6--cesec51&amp;amp;isbn=978-0-443-06930-7&amp;amp;uniqId=282726024-10&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary7&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''DNA-DNA hybridisation''' is a technique used to compare the similarities and differences between two sets of genes.&amp;lt;ref&amp;gt;Long, S 2009, ''Bradley: Neurology in Clinical Practice, 5th ed.Long: Principles and Practice of Pediatric Infectious Diseases Revised Reprint, 3rd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X&amp;amp;isbn=978-0-7020-3468-8&amp;amp;uniqId=282726024-19#4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary8&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Doppler sonography''' uses the doppler effect to help image and measure blood flow pattern in the patient.&amp;lt;ref name=&amp;quot;Bradley&amp;quot;&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary9&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Estriol''' is a hormone that is produced in greater amounts during pregnancy especially in the second and third trimester. One of its main functions is to assist with blood flow in the placenta and uterus.&amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary10&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Gametes''' are reproductive (sex) cells (ie: eggs and sperm) that can unite to form a new cell called a zygote. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6&amp;amp;isbn=978-0-443-06811-9&amp;amp;uniqId=283289096-4#4-u1.0-B978-0-443-06811-9..10001-6--b0020&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary11&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Gonadoblastoma''' is an abnormal proliferation of gonadal cells, that may or may not be malignant.&amp;lt;ref name=&amp;quot;Wein&amp;quot;&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary12&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Haploid''' is the status of a cell having only a single set of unpaired chromosomes, or half the number of chromosomes contained in typical body cells. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary13&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''hCG''' is the abbreviation for human chorionic gonadotropin. It is a hormone that functions in the early stage of pregnancy to maintain the blood supply to the corpus luteum.&amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary14&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Homologous chromosomes''' are pairs of chromosomes, one each obtained from maternal and paternal gametes.  46 total chromosome complements are within an organism, 22 pairs of which are homologous chromosomes (called autosomes); the other 2 chromosomes are the sex chromosomes. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary15&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Hypoplasia''' is when an organ or tissue is not completely developed.&amp;lt;ref name=&amp;quot;Wein&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary16&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Inhibin A''' is a peptide produced by the ovaries and acts to restrain the production of follicle-stimulating hormone.&amp;lt;ref&amp;gt;Melmed, S 2011, ''Melmed: Williams Textbook of Endocrinology, 12th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0324-5..00045-6&amp;amp;isbn=978-1-4377-0324-5&amp;amp;uniqId=282726024-25 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary17&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Karyotype''' is an individual's set of chromosomes, both their number and appearance.&amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary18&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Meiosis''' is the specific process of cell division within sex cells which halves the number of chromosomes in the cells through via two cell divisions; this is specific to germ cells only, creating haploid gametes (sex cells) from diploid cells. &amp;lt;ref name=&amp;quot;Moore2&amp;quot;&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary19&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Monosomy''' is a condition wherein a specific chromosome is completely missing within one gamete that combines with a normal gamete to form a zygote; a chromosome has no homologue, or matching chromosome, to pair with. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary20&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Mosaicism''' is when a particular type or all cells of an individual do not have the same genetic makeup. This is caused by a mutation during embryonic cell division.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary21&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Nondisjunction''' is the failure of chromosome pairs to separate entirely during either stage of Meiosis. &amp;lt;ref name=&amp;quot;Moore2&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary22&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Oligohydramnios''' is a prenatal condition, where there is an insufficient amount of amniotic fluid.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary23&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Polyhydramnios''' is a prenatal condition, where there is an excessive amount of amniotic fluid.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary24&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Random assortment''' is the idea first proposed by Gregor Mendel which states that pairs of alleles independently separate during the formation of gametes. &amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;   &lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary25&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Recombination''' is the process which by genetic material is crossed over and switched between two segments of DNA which adds to the genetic diversity of the genome.&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary26&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''SHOX gene''' is the short stature homeobox gene, that when deficient frequently results in short stature.&amp;lt;ref name=&amp;quot;PMID21325865&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary27&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Sister chromatids''' are 2 identical copies of a chromatin that are connected at a position in their center called a centromere. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;     &lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary28&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Ultrasonography''' is a medical technique that employs ultrasound frequencies to visualise a patient's internal bodily structure.&amp;lt;ref name=&amp;quot;Bradley&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== References ==&lt;br /&gt;
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&amp;lt;references/&amp;gt;&lt;br /&gt;
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{{2011Projects}}&lt;/div&gt;</summary>
		<author><name>Z3217043</name></author>
	</entry>
	<entry>
		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=77629</id>
		<title>2011 Group Project 1</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=77629"/>
		<updated>2011-10-12T23:10:03Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: /* Cardiac Treatment */&lt;/p&gt;
&lt;hr /&gt;
&lt;div&gt;{{2011ProjectsMH}}&lt;br /&gt;
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== Turner Syndrome ==&lt;br /&gt;
&lt;br /&gt;
== Introduction ==&lt;br /&gt;
&lt;br /&gt;
[[File:Karyotype.jpg|250px|thumb|right|Figure 1: The arrow indicates the presence of only one X chromosome in Karyotype &amp;lt;ref&amp;gt;www.ncbi.nlm.nih.gov/pmc/articles/PMC2910953/figure/F0002/&amp;lt;/ref&amp;gt;.]]&lt;br /&gt;
&lt;br /&gt;
Turner Syndrome (TS), named after Henry Hubert Turner who first described the syndrome in his paper in 1938,&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;4557013&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; is one of the most commonly occuring chromosomal disorders. It is caused by a complete or partial X [[#Glossary19 | '''monosomy''']] in some or all cells and occurs in approximately 1 in 2000 live births in females only. The morbidity rate of spontaneous abortions is 10% and only about 1% of fetuses survive to term. &lt;br /&gt;
&lt;br /&gt;
During normal fetal development, each ovary contain as many as 7 million oocytes. The oocytes gradually reduce to 400,000 during menarche, and during menopause fewer than 10,000 remain. However in TS, the ovaries develop normally during embryogenesis but the absence of the second X chromosome leads to an accelerated loss of oocytes, which is complete by the time the infant reaches 2 years of age. Genetically, menopause occurs before menarche and the ovaries are reduced to atrophic fibrous strands, devoid of ova and follicles (streak ovaries). Development of somatic (nongonadal) tissues that gentically resides on the missing or abnormal X chromosome are also severely affected. For example short stature is caused by a deletion of the Xp chromosome and the deletion of Xq causes gonadal dysfunction &amp;lt;ref&amp;gt;Pathologic Basis of Disease, 8th Ed. V. Kumar, R. Cotran &amp;amp; S Robbins (2007), Saunders &amp;amp; Co.&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The most frequent clinical features of TS are short stature and gonadal dysgenesis. Other features may include [[#Glossary4 | '''coarctation''']] of the aorta, renal anomalies, neck webbing and lymphoedema. People who have TS all vary in their clinical phenotype. In recent years there has been increased interest in TS due to the introduction of growth hormone treatment and there has been marked improvement in the understanding of this condition as advances in molecular genetic techniques occur. However, there is still need for further research as a multidisciplinary approach to treatment is vital in improving the quality of life of girls with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Epidemiology ==&lt;br /&gt;
&lt;br /&gt;
[[File:Stats abnormal.jpg|225px|thumb|left|Figure 2: The arrow indicates the presence of only one X chromosome in the karyotype &amp;lt;ref&amp;gt;www.ncbi.nlm.nih.gov/pmc/articles/PMC2910953/figure/F0002/&amp;lt;/ref&amp;gt;.]]&lt;br /&gt;
&lt;br /&gt;
TS affects about 1 in 2000 live-born females. There are three types of karyotypic abnormalities but the most frequently observed is the entire X chromosome deletion resulting in 45 X [[#Glossary17 | '''karyotype''']]. The remaining third have structural abnormalities of the X chromosomes and two thirds are mosaics, whereby, the maternal X is retained in two-thirds of women and the paternal X in the remainder.&lt;br /&gt;
&lt;br /&gt;
The phenotype of TS varies but involves anomalies of the sex chromosome. It could be caused by the limited amount of genetic material in these abnormal chromosomes. TS can be transmitted from mother to daughter, and thus could be described as a heredity linked syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The loss of one of the sex chromosomes in TS, occurs after the zygote has formed or just after the fusion of the [[#Glossary10 | '''gametes''']]. In 70-80% of cases the retained X chromosome is inherited from the mother. In such circumstances it has led to the different phenotypic expression of the genes present on the X chromosome depending if inherited from the maternally or paternally. The morphological differences from those retaining the maternal, compared to retaining the paternal X chromosome, have shown to have a greater incidence of cardiovascular anomalies and neck webbing. &lt;br /&gt;
&lt;br /&gt;
The missing sex chromosome could be either an X or a Y. This has clinical implications because if the Y material is present there is a risk of up to 30% of [[#Glossary11 | '''gonadoblastoma''']] developing in the dysgenetic gonads. This is because the 'gonadoblastoma locus' is located on the Y chromosome which is situated just below the centromere.&lt;br /&gt;
The inactivation of the abnormal X chromosomes is another cause that primarily affects hypogonadism phenotypically in females.  &amp;lt;ref&amp;gt;Wade, Nicholas (2009-09-15). '''&amp;quot;New Clues to Sex Anomalies in How Y Chromosomes Are Copied&amp;quot;'''. The New York Times. Retrieved 2010-05-26. http://www.nytimes.com/2009/09/15/science/15chrom.html?pagewanted=1&amp;amp;_r=1&amp;amp;hpw&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Etiology ==&lt;br /&gt;
[[File:nondisjunction.jpg|1000px|thumb|right|alt text|Figure 3: This figure shows the progeny created from normal disjunction (A), and non-disjunction during both Meiosis I (B) and Meiosis II (C).]]&lt;br /&gt;
&lt;br /&gt;
Causation of TS can be traced back to the stages of sex-cell development.  When sex cells divide through a process called [[#Glossary18 | '''meiosis''']] to create gametes, either a [[#Glossary12 | '''haploid''']] egg (for females) or sperm (for males) two divisions occur, Meiosis I and Meiosis II.  Meiosis is the main process which helps create the vast genetic diversity within all populations by allowing [[#Glossary25 | '''recombination''']] and [[#Glossary24 | '''random assortment''']].  During Meiosis I [[#Glossary14 | '''homologous chromosomes''']] are separated; following Meiosis I, [[#Glossary27 | '''sister chromatids''']] separate during Meiosis II.  If during either stage of Meiosis I or II the homologous chromosomes or sister chromatids, respectively, do not fully separate, a phenomenon can occur called [[#Glossary21 | '''nondisjunction''']].  Nondisjunction causes an uneven distribution of genetic material to each daughter nuclei.  When an uneven distribution is such that one of the gametes does not have any of a chromosome, it can combine with another normal gamete to create a fertilized egg with only one chromosome as opposed to the normal two that are found in human cells; this is called a monosomy.  When this occurs in the sex chromosomes leaving only a single X chromosome (X0 genotype) TS is created, leaving only 45 chromosomes in the zygote rather than the normal 46.  &lt;br /&gt;
&lt;br /&gt;
[[File:22+23=45.jpg|400px|thumb|right|Figure 4: 22 chromosomal egg + 23 chromosomal sperm = 45 chromsomes in zygote instead of normal 46.]]&lt;br /&gt;
&lt;br /&gt;
TS can also be created by partial monosomy or disjunctions, meaning that although a whole X chromosome is not missing, portions of it are not present or are non-functional, rendering the chromosome useless.  Any disjunction seems to be completely sporadic and have yet to be attributed to any genetic link. The only thing known for sure is that during conception a portion of or the whole second sex chromosome is not conveyed to the zygote.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;7763055&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; Because at least one X chromosome is necessary for vital functions, this condition can only be found in females.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Clinical Manifestations ==&lt;br /&gt;
&lt;br /&gt;
The following are a list of characteristics and diseases which tend to accompany, be caused by, or be related to TS.  &lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| &lt;br /&gt;
| '''Clinical Manifestations'''&lt;br /&gt;
| '''Related Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Physical Attributes'''&lt;br /&gt;
|&lt;br /&gt;
*congenital malformations (heart, urinary system, face, neck, ears) &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*gonadal dysgenesis (causes oestrogen deficiencies, which can cause infertility) &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*increased risk of fractures &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16624607&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low cortical bone mineral density (BMD) &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;/&amp;gt;&lt;br /&gt;
*middle ear infections &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*premature ovarian failure &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*short/reduced stature &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*webbed neck &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;17562588&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Webbed Neck.jpg|none|thumb|250px|Figure 5: An example of neck webbing.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Prone to Develop Autoimmune Conditions'''&lt;br /&gt;
|&lt;br /&gt;
*alopecia areata &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coeliac disease (CD) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12466343&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*psoriasis &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;/&amp;gt;&lt;br /&gt;
*thyroiditis &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*type 1 diabetes &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
|[[File:Psoriasis.jpg|none|thumb|250px|Figure 6: An example of a patient with psoriasis on their arm.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Decreased Cognition'''&lt;br /&gt;
|&lt;br /&gt;
*emotion processing difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;20014362&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*increased impulsivity &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;19750135&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low IQ score &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
*nonverbal learning disability (slow math calculations)&amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*social cognition difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*visuoperception/visuoconstruction deficit (identifying and locating is difficult due to poor visual working memory) &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Increased Risk of'''&lt;br /&gt;
|&lt;br /&gt;
*cirrhosis of the liver &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*colon and rectal cancers &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*hypothyroidism &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*inflammatory bowel disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
*morbidity and mortality &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*neurovascular disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*osteoporosis &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*ovarian failure &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*renal and gastrointestinal disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Cardiac Abnormalities''' (most serious/life threatening medical problems created by TS)&lt;br /&gt;
|&lt;br /&gt;
*absence of portal vein &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16612647&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*aortic dilatation and dissection  &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*arrhythmias &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;17015510&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*arteriosclerosis &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*biscuspid aortic valves &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*coarctation of the aorta &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*hypertension &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*ischemic heart disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*prolapsed mitral valve &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
== Diagnostic Procedures ==&lt;br /&gt;
&lt;br /&gt;
===Diagnostic Definition===&lt;br /&gt;
&lt;br /&gt;
[[File:Turner Syndrome X Chromosome Variations.jpg|thumb|right|Figure 7: Variations of the Second X Chromosome in Turner Syndrome]]&lt;br /&gt;
TS is diagnosed through both an evaluation of physical features and by analysis of the second sex chromosome. The two criteria must be met for classification of TS, an abnormality in the second sex chromosome must be found and the abnormality must be found to be expressed somehow in the individual's traits. Hence if physical characteristics are not present even when the cytogenetic criterion is met the patient is not diagnosed as having TS.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; In TS the second sex chromosome is either:&lt;br /&gt;
&lt;br /&gt;
*Completely absent (45,X)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Partially absent&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
*Forms an isochromosome (isoXq), possessing a long arm duplication (q) and being devoid of a short arm (p)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*In a ring formation (rX)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
*Is devoid of the homeobox gene, [[#Glossary26 | '''SHOX''']] (short stature homeobox), the deletion being prior to the junction between Xp22.2 and Xp22.3&amp;lt;ref name=&amp;quot;PMID21325865&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
Any of these variations of the second sex chromosome may occur with or without cell line [[#Glossary20 | '''mosaicism''']].&lt;br /&gt;
TS may be diagnosed prenatally or postnatally, using this genetic diagnostic definition coupled with an appropriate phenotypic evaluation of the individual, as outlined below.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Prenatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
The prenatal diagnostic tool for TS is karyotype screening and testing for phenotype abnormalities. If TS is diagnosed prenatally, karyotype screening and an evaluation of the individual's traits should be conducted again postnatally for confirmation of this diagnosis. TS is frequently diagnosed after karyotype screening during [[#Glossary5 | '''chorionic villous sampling''']] or [[#Glossary2 | '''amniocentesis''']].&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
The table below outlines various prenatal tests conducted and the indications that may be present in babies with TS. Although these techniques and the indications they reveal may highlight TS signs, they should not be used as sole diagnostic tools.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Technique'''&lt;br /&gt;
| '''Turner syndrome indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Ultrasound'''&lt;br /&gt;
|&lt;br /&gt;
*Increased nuchal translucency &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary6 | '''Cystic hygroma''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Coarctation of the aorta &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Left-sided cardiac defects &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary3 | '''Brachycephaly''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Renal anomalies &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary23 | '''Polyhydramnios''']] &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary22 | '''Oligohydramnios''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Growth retardation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;10599686&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Turner Syndrome Test Showing Nuchal Translucency.gif|none|thumb|400px|Figure 8: Ultrasound Test Showing Nuchal Translucency.]]&lt;br /&gt;
[[File:Turner Syndrome Test Showing Cystic Hygroma.gif|none|thumb|400px|Figure 9: Ultrasound Test Showing Cystic Hygroma.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Maternal serum screening'''&lt;br /&gt;
|&lt;br /&gt;
*Abnormal [[#Glossary1 | '''α-fetoprotein''']] levels &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary16 | '''inhibin A''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary13 | '''hCG''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal unconjugated [[#Glossary9 | '''estriol''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
|[[File: TurnerSyndromeMaternalSerumSampling.jpg|none|thumb|400px|Figure 10: Maternal Serum Sampling.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Postnatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
In postnatal diagnosis, karyotype investigation is undertaken for the individual. When a female presents with the following clinical findings, explained in table below, it is recommended that chromosomal analysis is undertaken, so that TS may be eliminated&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;:&lt;br /&gt;
{|sstyle= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Age'''&lt;br /&gt;
| '''Phenotypic manifestations/indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Baby/infant'''&lt;br /&gt;
|&lt;br /&gt;
*Oedema of the hands or feet &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Nuchal folds &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Cardiac abnormalities for example aortic dilation, bicuspid aortic valve and aortic coarctation &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Low hairline &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Low set ears &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Small mandible &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Gonadal dysgenesis &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
|&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Child'''&lt;br /&gt;
| &lt;br /&gt;
*Short stature with low growth velocity &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Turned in elbows &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Nail [[#Glossary15 | '''hypoplasia''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Hyperconvex uplifted nails &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Multiple pigmented benign birthmarks/moles &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Characteristic faecies &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Short fourth metacarpal &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*High arched palate &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Extensive and chronic inflammation/infection of the ear &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Hearing loss &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 4 year old child.jpg|left|thumb|150px|Figure 11: Four-year-old girl with Turner syndrome. Note somewhat broad chest, prominent ears and ptosis, but otherwise normal proportion. There is no pronounced neck webbing or edema.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Adolescent/Adult'''&lt;br /&gt;
|&lt;br /&gt;
*Absence of breast development by 13 yr of age &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Pubertal arrest &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Primary or secondary amenorrhoea&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Unexplained short stature &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Renal abnormalities &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Immune disorders &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 35 year old woman.jpg|none|thumb|150px|Figure 12: A Thirty-five-year-old woman with Turner syndrome. Note increased carrying angle of arms, broad flat chest and sexual infantilism, but the lack of pronounced neck webbing or peripheral edema.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Since an absence of the physical signs of puberty and/or growth failure are often seen as normal variations in the population, these possible indications/symptoms of TS may not be further investigated by many clinicians.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20361125&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; When karyotyping in order to exclude natural cell variation, a sufficient number of cells should be assessed. Whilst a sample of blood will often reveal TS, an evaluation of a second tissue sample like the skin is recommend.&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
[[#Glossary7 | '''DNA hybridisation''']] or fluorescent in situ hybridisation should be conducted using a Y centromeric or short arm probe to detect for any additional Y or X chromosomal material.&lt;br /&gt;
If there is any of the Y chromosome present, this may initiate gonadoblastoma development, another primary indicator of TS. Hence the individual should have both a vaginal [[#Glossary28 | '''ultrasonograph''']] and colour [[#Glossary8 | '''Doppler sonograph''']] of their gonads to detect whether any Y chromosome fragments are present. These tests should be repeated regularly to monitor the patient for any malignancy, if a gonadectomy is not undertaken.&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Treatment ==&lt;br /&gt;
&lt;br /&gt;
=== Cardiac Treatment ===&lt;br /&gt;
&lt;br /&gt;
When patients are confirmed with TS, it is necessary to have a full cardiac evaulation including a physical exam and a echocardiogram. If cardiac abnormalities are found, monitoring by a cardiologist is recommended including regular blood pressure checks&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  Coarctation of the aorta and hypoplastic left heart are quite often very serious issues are need to be dealt with surgically&amp;lt;ref name=&amp;quot;PMID1273980&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;1273980&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
If no abnormalities are found, blood pressure in TS patients is still routinely checked and a follow up cardiac evaulation is recommended for girls around the age of puberty (12-15)&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Speech ===&lt;br /&gt;
&lt;br /&gt;
Many TS patients have trouble with their speech. It is necessary for them to be refered to an Ear, Nose and Throat specialist and to a speech therapist to work on improve any speech problems&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Management of Puberty and Growth ===&lt;br /&gt;
The main treatment for growth and pubertal development is Hormone Replacement Therapy. Growth Hormone is administered to girls with abnormal growth, resulting in postive growth that is consistent with the expected height of the patient. It is administered as early as 2 years of age, but more often in the age group of 9-12 which is in line with the growth spurt that occurs during puberty&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Natural oestrogen and progesterone are administered to girls when they reach the age of puberty in early adolescence. The age at which this treatment commences varies between individuals, as does the dosage. The administration of oestrogen will begin the process of puberty in girls affected by TS and it is important that this begins around the same time as her peers&amp;lt;ref name=&amp;quot;PMID1273980&amp;quot;/&amp;gt;. The use of oestrogen is often held off if the patient is also undergoing GH treatment so that maximum growth can be achieved, as oestrogen will induce the fusion of the epiphyses and limit longitudinal bone growth&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Around 10% of nonmosaic and 20% of mosaic women with TS will have spontaneous menses (periods) and may not need to undergo Hormone Replacement to initiate puberty. Around 2-5% of these women will have the potential to fall pregnant naturally&amp;lt;ref name=&amp;quot;PMID1273980&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
=== Appearance ===&lt;br /&gt;
&lt;br /&gt;
Extreme neck webbing maybe worrying or uncomfortable to women with TS and in some cases plastic surgery is undertaken to fix this problem. Also if convex gorwth of toenails occurs, surgery is conducted so that the woman can wear normal shoes&amp;lt;ref name=&amp;quot;PMID1273980&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Ongoing Adult Treatment ===&lt;br /&gt;
&lt;br /&gt;
Closely monitoring the health of TS adults is vital in the reduction of morbidity and mortality. An annual physical evalution should be undertaken which includes, blood pressure, heart auscultation, thyroid function, breast exam, and pap smear&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  &lt;br /&gt;
&lt;br /&gt;
Particular attention needs to be taken in the area of weight and obesity in TS women due to their high risk of developing diabetes, osteoporosis and hypertension. Patients are to be encouraged to have a healthy lifestyle including healthy eating and exercise&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Research ==&lt;br /&gt;
&lt;br /&gt;
===Current research===&lt;br /&gt;
&lt;br /&gt;
Since there is no preventative or cure, currently mainly research is being conducted into the areas of symptoms, possible treatments and risks involved with TS.&lt;br /&gt;
&lt;br /&gt;
'''Growth hormone therapy in Turner syndrome: its affect on height, weight and stature.'''&lt;br /&gt;
*'''Growth hormone effect on body composition in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21720878&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research findings from this paper conclude that people with TS have lower height, higher BMI and higher proportional sitting height and leg length than that of the normal population, no matter whether they undergo hormone replacement therapy or not.&lt;br /&gt;
*'''Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21619701&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study has concluded that all adults with TS had a similar quality of life regardless of whether they have a higher stature due to undergoing growth hormone replacement therapy or not. It was hypothesised that height differences did not affect quality of life as the individuals seemed to adapt to their own life challenges.&lt;br /&gt;
*'''Growth hormone treatment for Turner syndrome in Australia reveals that younger age and increased dose interact to improve response.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21375553&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research from this study found that growth hormone therapy works most optimally if given earlier in life and at a high dose in the first year of treatment.&lt;br /&gt;
*'''Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21398400&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: Another study which confers that the early introduction of growth hormone therapy is most efficacious. However the individual's glucose metabolism should be monitored as the hormones may affect glucose tolerance transiently.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Oestrogen hormone replacement therapy in Turner syndrome: the adequate dosage and its effect on uterine development, breast development, bone mineral density and sexual characteristics.'''&lt;br /&gt;
*'''Growth hormone plus childhood low-dose oestrogen in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21449786&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study indicates that undergoing both growth hormone and oestrogen therapy together may help increase the efficacy of each (increasing growth in height and pubertal development) more than when they act alone. &lt;br /&gt;
*'''Oestrogen requirements in girls with Turner syndrome; how low is enough for initiating puberty and uterine development?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21793702&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study assessed the minimal dosage of oestrogen that is required to bring about desired pubertal development in girls with TS.&lt;br /&gt;
*'''Puberty induction in Turner syndrome: results of oestrogen treatment on development of secondary sexual characteristics, uterine dimensions and serum hormone levels.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19200215&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: It was found that uterus of women with TS who had undergone oestrogen was underdeveloped, however the exact cause of this needs to be further researched.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Pregnancy and Turner syndrome: evaluation and treatment of risks involved with pregnancy for: the mothers of Turner syndrome babies, for individuals with Turner syndrome and for the babies of individuals with Turner syndrome.'''&lt;br /&gt;
*'''Familial occurrence of Turner syndrome: casual event or increased risk?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21648298&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research examined whether there is a higher probability of having a second child with Turner syndrome and concluded that there is evidence in the small cohort that they used of a greater probability. It is suggested that a larger study be conducted to look further into these findings.that &lt;br /&gt;
*'''Obstetric Outcomes in Women with Turner Karyotype.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21865365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: In this study it was found that women with TS had shorter pregnancies than that of a control group, but no other marked difference was observed between the groups.&lt;br /&gt;
*'''Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21496813&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This paper examined a number of pregnant women with TS, some who incidentally went through puberty even though they had no hormone replacement therapy and another group that had undertaken hormone replacement therapy. Though there were not many complications in either group, the groups were small in number and one mother did have cardiovascular difficulties later on in life. Hence a thorough examination of pregnant TS women should be conducted prior to conception.&lt;br /&gt;
*'''Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20923275&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This article assessed the prognosis of pregnant women with TS. They concluded that spontaneous pregnancy increases the risk of the baby having phenotypic and chromosomal abnormalities compared with women having assisted reproductive therapies.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Future research=== &lt;br /&gt;
&lt;br /&gt;
Future research needs to be conducted in the following areas: to follow up on the suggestions given in the conclusions of current research papers as outlined in the prior section and also into how the care system is functioning for TS individuals as outlined below.&lt;br /&gt;
&lt;br /&gt;
*'''Medical Care of Girls with Turner Syndrome: Where are we Lacking?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21454226&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research found that a large proportion (&amp;gt;50%) of people with TS are not given adequate information upon diagnosis or screenings for complications and symptoms. Therefore it is suggested in order to rectify this issue that more education should be given to physicians on the syndrome&lt;br /&gt;
*'''Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21752892&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; and '''Turner's syndrome requires multidisciplinary approach.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19514616&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: These article evaluate the need for a multidisciplinary approach to treatment of TS. Since the symptoms can be wide ranging and severe, it is difficult but necessary for all of them to be examined in each individual. Hence a greater care plan for individuals should be implemented upon diagnosis.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Related Pages ==&lt;br /&gt;
&lt;br /&gt;
*[[Genital System - Abnormalities]] : Other genital abnormalities are described here, which may assist in a differential diagnosis of TS.&lt;br /&gt;
&lt;br /&gt;
*[[X Chromosome]] : A more in depth description of the structure and role of the X chromosome.&lt;br /&gt;
&lt;br /&gt;
*[[Cell Division - Meiosis]] &amp;amp; [[Oocyte Development]]  : Examination of the process of meiosis and the developing oocyte, will assist in the comprehension of why and how there is and abnormality or absence of the X chromosome.&lt;br /&gt;
&lt;br /&gt;
*[[Menstrual Cycle]] : An abnormal menstrual cycle can often be an indicator of TS, hence this information on the normal menstrual pattern is helpful in understanding more about the symptoms and diagnosis of TS.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Glossary ==&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary1&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Alpha-fetoprotein''' is a protein with an unknown function. It makes up, up to one third of the protein serum levels found in the second trimester of pregnancy and in neural tube defects, these alpha-fetoprotein levels are elevated. &amp;lt;ref name=&amp;quot;McPherson&amp;quot;&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary2&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Amniocentesis''' is a prenatal diagnostic tool. The procedure involves the sampling of amniotic fluid from the amniotic sac using a syringe, that is then tested for a number of abnormalities. &amp;lt;ref name=&amp;quot;Moore&amp;quot;&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary3&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Brachycephaly''' is a condition where the coronal suture of the skull fuses prematurely. Since the skull is unable to expand any further in the anterior-posterior directions due to this closure, it grows to an abnormal size in in the lateral dimension.&amp;lt;ref&amp;gt;Flint, P 2010, ''Flint: Cummings Otolaryngology: Head &amp;amp; Neck Surgery, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-323-05283-2..00186-5--s0045&amp;amp;isbn=978-0-323-05283-2&amp;amp;uniqId=282726024-5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary4&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Coarctation''' of the aorta is an abnormality where the aorta is constricted at one or various sections. This can be caused by genetic and/or environmental factors.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary5&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Chorionic villous sampling''' is a prenatal diagnostic tool which can be used from 7 weeks after fertilisation. It is used to test for a number of chromosomal abnormalities including X-linked and metabolic disorders.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary6&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Cystic hygroma''' is a prenatal abnormality where fluid builds up in the posterior portion of the neck. The body may or may not relieve itself naturally of this accumulation of fluid after birth. &amp;lt;ref&amp;gt;Gabbe, S 2007, ''Gabbe: Obstetrics: Normal and Problem Pregnancies, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-443-06930-7..50011-6--cesec51&amp;amp;isbn=978-0-443-06930-7&amp;amp;uniqId=282726024-10&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary7&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''DNA-DNA hybridisation''' is a technique used to compare the similarities and differences between two sets of genes.&amp;lt;ref&amp;gt;Long, S 2009, ''Bradley: Neurology in Clinical Practice, 5th ed.Long: Principles and Practice of Pediatric Infectious Diseases Revised Reprint, 3rd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X&amp;amp;isbn=978-0-7020-3468-8&amp;amp;uniqId=282726024-19#4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary8&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Doppler sonography''' uses the doppler effect to help image and measure blood flow pattern in the patient.&amp;lt;ref name=&amp;quot;Bradley&amp;quot;&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary9&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Estriol''' is a hormone that is produced in greater amounts during pregnancy especially in the second and third trimester. One of its main functions is to assist with blood flow in the placenta and uterus.&amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary10&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Gametes''' are reproductive (sex) cells (ie: eggs and sperm) that can unite to form a new cell called a zygote. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6&amp;amp;isbn=978-0-443-06811-9&amp;amp;uniqId=283289096-4#4-u1.0-B978-0-443-06811-9..10001-6--b0020&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary11&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Gonadoblastoma''' is an abnormal proliferation of gonadal cells, that may or may not be malignant.&amp;lt;ref name=&amp;quot;Wein&amp;quot;&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary12&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Haploid''' is the status of a cell having only a single set of unpaired chromosomes, or half the number of chromosomes contained in typical body cells. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary13&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''hCG''' is the abbreviation for human chorionic gonadotropin. It is a hormone that functions in the early stage of pregnancy to maintain the blood supply to the corpus luteum.&amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary14&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Homologous chromosomes''' are pairs of chromosomes, one each obtained from maternal and paternal gametes.  46 total chromosome complements are within an organism, 22 pairs of which are homologous chromosomes (called autosomes); the other 2 chromosomes are the sex chromosomes. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary15&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Hypoplasia''' is when an organ or tissue is not completely developed.&amp;lt;ref name=&amp;quot;Wein&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary16&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Inhibin A''' is a peptide produced by the ovaries and acts to restrain the production of follicle-stimulating hormone.&amp;lt;ref&amp;gt;Melmed, S 2011, ''Melmed: Williams Textbook of Endocrinology, 12th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0324-5..00045-6&amp;amp;isbn=978-1-4377-0324-5&amp;amp;uniqId=282726024-25 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary17&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Karyotype''' is an individual's set of chromosomes, both their number and appearance.&amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary18&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Meiosis''' is the specific process of cell division within sex cells which halves the number of chromosomes in the cells through via two cell divisions; this is specific to germ cells only, creating haploid gametes (sex cells) from diploid cells. &amp;lt;ref name=&amp;quot;Moore2&amp;quot;&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary19&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Monosomy''' is a condition wherein a specific chromosome is completely missing within one gamete that combines with a normal gamete to form a zygote; a chromosome has no homologue, or matching chromosome, to pair with. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary20&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Mosaicism''' is when a particular type or all cells of an individual do not have the same genetic makeup. This is caused by a mutation during embryonic cell division.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary21&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Nondisjunction''' is the failure of chromosome pairs to separate entirely during either stage of Meiosis. &amp;lt;ref name=&amp;quot;Moore2&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary22&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Oligohydramnios''' is a prenatal condition, where there is an insufficient amount of amniotic fluid.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary23&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Polyhydramnios''' is a prenatal condition, where there is an excessive amount of amniotic fluid.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary24&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Random assortment''' is the idea first proposed by Gregor Mendel which states that pairs of alleles independently separate during the formation of gametes. &amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;   &lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary25&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Recombination''' is the process which by genetic material is crossed over and switched between two segments of DNA which adds to the genetic diversity of the genome.&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary26&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''SHOX gene''' is the short stature homeobox gene, that when deficient frequently results in short stature.&amp;lt;ref name=&amp;quot;PMID21325865&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary27&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Sister chromatids''' are 2 identical copies of a chromatin that are connected at a position in their center called a centromere. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;     &lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary28&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Ultrasonography''' is a medical technique that employs ultrasound frequencies to visualise a patient's internal bodily structure.&amp;lt;ref name=&amp;quot;Bradley&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== References ==&lt;br /&gt;
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&amp;lt;references/&amp;gt;&lt;br /&gt;
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{{2011Projects}}&lt;/div&gt;</summary>
		<author><name>Z3217043</name></author>
	</entry>
	<entry>
		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=77624</id>
		<title>2011 Group Project 1</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=77624"/>
		<updated>2011-10-12T23:06:38Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: /* Treatment */&lt;/p&gt;
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&lt;div&gt;{{2011ProjectsMH}}&lt;br /&gt;
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== Turner Syndrome ==&lt;br /&gt;
&lt;br /&gt;
== Introduction ==&lt;br /&gt;
&lt;br /&gt;
[[File:Karyotype.jpg|250px|thumb|right|Figure 1: The arrow indicates the presence of only one X chromosome in Karyotype &amp;lt;ref&amp;gt;www.ncbi.nlm.nih.gov/pmc/articles/PMC2910953/figure/F0002/&amp;lt;/ref&amp;gt;.]]&lt;br /&gt;
&lt;br /&gt;
Turner Syndrome (TS), named after Henry Hubert Turner who first described the syndrome in his paper in 1938,&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;4557013&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; is one of the most commonly occuring chromosomal disorders. It is caused by a complete or partial X [[#Glossary19 | '''monosomy''']] in some or all cells and occurs in approximately 1 in 2000 live births in females only. The morbidity rate of spontaneous abortions is 10% and only about 1% of fetuses survive to term. &lt;br /&gt;
&lt;br /&gt;
During normal fetal development, each ovary contain as many as 7 million oocytes. The oocytes gradually reduce to 400,000 during menarche, and during menopause fewer than 10,000 remain. However in TS, the ovaries develop normally during embryogenesis but the absence of the second X chromosome leads to an accelerated loss of oocytes, which is complete by the time the infant reaches 2 years of age. Genetically, menopause occurs before menarche and the ovaries are reduced to atrophic fibrous strands, devoid of ova and follicles (streak ovaries). Development of somatic (nongonadal) tissues that gentically resides on the missing or abnormal X chromosome are also severely affected. For example short stature is caused by a deletion of the Xp chromosome and the deletion of Xq causes gonadal dysfunction &amp;lt;ref&amp;gt;Pathologic Basis of Disease, 8th Ed. V. Kumar, R. Cotran &amp;amp; S Robbins (2007), Saunders &amp;amp; Co.&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The most frequent clinical features of TS are short stature and gonadal dysgenesis. Other features may include [[#Glossary4 | '''coarctation''']] of the aorta, renal anomalies, neck webbing and lymphoedema. People who have TS all vary in their clinical phenotype. In recent years there has been increased interest in TS due to the introduction of growth hormone treatment and there has been marked improvement in the understanding of this condition as advances in molecular genetic techniques occur. However, there is still need for further research as a multidisciplinary approach to treatment is vital in improving the quality of life of girls with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Epidemiology ==&lt;br /&gt;
&lt;br /&gt;
[[File:Stats abnormal.jpg|225px|thumb|left|Figure 2: The arrow indicates the presence of only one X chromosome in the karyotype &amp;lt;ref&amp;gt;www.ncbi.nlm.nih.gov/pmc/articles/PMC2910953/figure/F0002/&amp;lt;/ref&amp;gt;.]]&lt;br /&gt;
&lt;br /&gt;
TS affects about 1 in 2000 live-born females. There are three types of karyotypic abnormalities but the most frequently observed is the entire X chromosome deletion resulting in 45 X [[#Glossary17 | '''karyotype''']]. The remaining third have structural abnormalities of the X chromosomes and two thirds are mosaics, whereby, the maternal X is retained in two-thirds of women and the paternal X in the remainder.&lt;br /&gt;
&lt;br /&gt;
The phenotype of TS varies but involves anomalies of the sex chromosome. It could be caused by the limited amount of genetic material in these abnormal chromosomes. TS can be transmitted from mother to daughter, and thus could be described as a heredity linked syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The loss of one of the sex chromosomes in TS, occurs after the zygote has formed or just after the fusion of the [[#Glossary10 | '''gametes''']]. In 70-80% of cases the retained X chromosome is inherited from the mother. In such circumstances it has led to the different phenotypic expression of the genes present on the X chromosome depending if inherited from the maternally or paternally. The morphological differences from those retaining the maternal, compared to retaining the paternal X chromosome, have shown to have a greater incidence of cardiovascular anomalies and neck webbing. &lt;br /&gt;
&lt;br /&gt;
The missing sex chromosome could be either an X or a Y. This has clinical implications because if the Y material is present there is a risk of up to 30% of [[#Glossary11 | '''gonadoblastoma''']] developing in the dysgenetic gonads. This is because the 'gonadoblastoma locus' is located on the Y chromosome which is situated just below the centromere.&lt;br /&gt;
The inactivation of the abnormal X chromosomes is another cause that primarily affects hypogonadism phenotypically in females.  &amp;lt;ref&amp;gt;Wade, Nicholas (2009-09-15). '''&amp;quot;New Clues to Sex Anomalies in How Y Chromosomes Are Copied&amp;quot;'''. The New York Times. Retrieved 2010-05-26. http://www.nytimes.com/2009/09/15/science/15chrom.html?pagewanted=1&amp;amp;_r=1&amp;amp;hpw&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Etiology ==&lt;br /&gt;
[[File:nondisjunction.jpg|1000px|thumb|right|alt text|Figure 3: This figure shows the progeny created from normal disjunction (A), and non-disjunction during both Meiosis I (B) and Meiosis II (C).]]&lt;br /&gt;
&lt;br /&gt;
Causation of TS can be traced back to the stages of sex-cell development.  When sex cells divide through a process called [[#Glossary18 | '''meiosis''']] to create gametes, either a [[#Glossary12 | '''haploid''']] egg (for females) or sperm (for males) two divisions occur, Meiosis I and Meiosis II.  Meiosis is the main process which helps create the vast genetic diversity within all populations by allowing [[#Glossary25 | '''recombination''']] and [[#Glossary24 | '''random assortment''']].  During Meiosis I [[#Glossary14 | '''homologous chromosomes''']] are separated; following Meiosis I, [[#Glossary27 | '''sister chromatids''']] separate during Meiosis II.  If during either stage of Meiosis I or II the homologous chromosomes or sister chromatids, respectively, do not fully separate, a phenomenon can occur called [[#Glossary21 | '''nondisjunction''']].  Nondisjunction causes an uneven distribution of genetic material to each daughter nuclei.  When an uneven distribution is such that one of the gametes does not have any of a chromosome, it can combine with another normal gamete to create a fertilized egg with only one chromosome as opposed to the normal two that are found in human cells; this is called a monosomy.  When this occurs in the sex chromosomes leaving only a single X chromosome (X0 genotype) TS is created, leaving only 45 chromosomes in the zygote rather than the normal 46.  &lt;br /&gt;
&lt;br /&gt;
[[File:22+23=45.jpg|400px|thumb|right|Figure 4: 22 chromosomal egg + 23 chromosomal sperm = 45 chromsomes in zygote instead of normal 46.]]&lt;br /&gt;
&lt;br /&gt;
TS can also be created by partial monosomy or disjunctions, meaning that although a whole X chromosome is not missing, portions of it are not present or are non-functional, rendering the chromosome useless.  Any disjunction seems to be completely sporadic and have yet to be attributed to any genetic link. The only thing known for sure is that during conception a portion of or the whole second sex chromosome is not conveyed to the zygote.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;7763055&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; Because at least one X chromosome is necessary for vital functions, this condition can only be found in females.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Clinical Manifestations ==&lt;br /&gt;
&lt;br /&gt;
The following are a list of characteristics and diseases which tend to accompany, be caused by, or be related to TS.  &lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| &lt;br /&gt;
| '''Clinical Manifestations'''&lt;br /&gt;
| '''Related Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Physical Attributes'''&lt;br /&gt;
|&lt;br /&gt;
*congenital malformations (heart, urinary system, face, neck, ears) &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*gonadal dysgenesis (causes oestrogen deficiencies, which can cause infertility) &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*increased risk of fractures &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16624607&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low cortical bone mineral density (BMD) &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;/&amp;gt;&lt;br /&gt;
*middle ear infections &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*premature ovarian failure &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*short/reduced stature &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*webbed neck &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;17562588&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Webbed Neck.jpg|none|thumb|250px|Figure 5: An example of neck webbing.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Prone to Develop Autoimmune Conditions'''&lt;br /&gt;
|&lt;br /&gt;
*alopecia areata &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coeliac disease (CD) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12466343&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*psoriasis &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;/&amp;gt;&lt;br /&gt;
*thyroiditis &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*type 1 diabetes &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
|[[File:Psoriasis.jpg|none|thumb|250px|Figure 6: An example of a patient with psoriasis on their arm.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Decreased Cognition'''&lt;br /&gt;
|&lt;br /&gt;
*emotion processing difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;20014362&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*increased impulsivity &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;19750135&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low IQ score &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
*nonverbal learning disability (slow math calculations)&amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*social cognition difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*visuoperception/visuoconstruction deficit (identifying and locating is difficult due to poor visual working memory) &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Increased Risk of'''&lt;br /&gt;
|&lt;br /&gt;
*cirrhosis of the liver &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*colon and rectal cancers &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*hypothyroidism &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*inflammatory bowel disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
*morbidity and mortality &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*neurovascular disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*osteoporosis &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*ovarian failure &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*renal and gastrointestinal disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Cardiac Abnormalities''' (most serious/life threatening medical problems created by TS)&lt;br /&gt;
|&lt;br /&gt;
*absence of portal vein &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16612647&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*aortic dilatation and dissection  &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*arrhythmias &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;17015510&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*arteriosclerosis &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*biscuspid aortic valves &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*coarctation of the aorta &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*hypertension &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*ischemic heart disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*prolapsed mitral valve &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
== Diagnostic Procedures ==&lt;br /&gt;
&lt;br /&gt;
===Diagnostic Definition===&lt;br /&gt;
&lt;br /&gt;
[[File:Turner Syndrome X Chromosome Variations.jpg|thumb|right|Figure 7: Variations of the Second X Chromosome in Turner Syndrome]]&lt;br /&gt;
TS is diagnosed through both an evaluation of physical features and by analysis of the second sex chromosome. The two criteria must be met for classification of TS, an abnormality in the second sex chromosome must be found and the abnormality must be found to be expressed somehow in the individual's traits. Hence if physical characteristics are not present even when the cytogenetic criterion is met the patient is not diagnosed as having TS.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; In TS the second sex chromosome is either:&lt;br /&gt;
&lt;br /&gt;
*Completely absent (45,X)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Partially absent&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
*Forms an isochromosome (isoXq), possessing a long arm duplication (q) and being devoid of a short arm (p)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*In a ring formation (rX)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
*Is devoid of the homeobox gene, [[#Glossary26 | '''SHOX''']] (short stature homeobox), the deletion being prior to the junction between Xp22.2 and Xp22.3&amp;lt;ref name=&amp;quot;PMID21325865&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
Any of these variations of the second sex chromosome may occur with or without cell line [[#Glossary20 | '''mosaicism''']].&lt;br /&gt;
TS may be diagnosed prenatally or postnatally, using this genetic diagnostic definition coupled with an appropriate phenotypic evaluation of the individual, as outlined below.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Prenatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
The prenatal diagnostic tool for TS is karyotype screening and testing for phenotype abnormalities. If TS is diagnosed prenatally, karyotype screening and an evaluation of the individual's traits should be conducted again postnatally for confirmation of this diagnosis. TS is frequently diagnosed after karyotype screening during [[#Glossary5 | '''chorionic villous sampling''']] or [[#Glossary2 | '''amniocentesis''']].&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
The table below outlines various prenatal tests conducted and the indications that may be present in babies with TS. Although these techniques and the indications they reveal may highlight TS signs, they should not be used as sole diagnostic tools.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Technique'''&lt;br /&gt;
| '''Turner syndrome indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Ultrasound'''&lt;br /&gt;
|&lt;br /&gt;
*Increased nuchal translucency &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary6 | '''Cystic hygroma''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Coarctation of the aorta &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Left-sided cardiac defects &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary3 | '''Brachycephaly''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Renal anomalies &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary23 | '''Polyhydramnios''']] &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary22 | '''Oligohydramnios''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Growth retardation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;10599686&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Turner Syndrome Test Showing Nuchal Translucency.gif|none|thumb|400px|Figure 8: Ultrasound Test Showing Nuchal Translucency.]]&lt;br /&gt;
[[File:Turner Syndrome Test Showing Cystic Hygroma.gif|none|thumb|400px|Figure 9: Ultrasound Test Showing Cystic Hygroma.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Maternal serum screening'''&lt;br /&gt;
|&lt;br /&gt;
*Abnormal [[#Glossary1 | '''α-fetoprotein''']] levels &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary16 | '''inhibin A''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary13 | '''hCG''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal unconjugated [[#Glossary9 | '''estriol''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
|[[File: TurnerSyndromeMaternalSerumSampling.jpg|none|thumb|400px|Figure 10: Maternal Serum Sampling.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Postnatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
In postnatal diagnosis, karyotype investigation is undertaken for the individual. When a female presents with the following clinical findings, explained in table below, it is recommended that chromosomal analysis is undertaken, so that TS may be eliminated&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;:&lt;br /&gt;
{|sstyle= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Age'''&lt;br /&gt;
| '''Phenotypic manifestations/indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Baby/infant'''&lt;br /&gt;
|&lt;br /&gt;
*Oedema of the hands or feet &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Nuchal folds &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Cardiac abnormalities for example aortic dilation, bicuspid aortic valve and aortic coarctation &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Low hairline &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Low set ears &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Small mandible &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Gonadal dysgenesis &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
|&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Child'''&lt;br /&gt;
| &lt;br /&gt;
*Short stature with low growth velocity &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Turned in elbows &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Nail [[#Glossary15 | '''hypoplasia''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Hyperconvex uplifted nails &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Multiple pigmented benign birthmarks/moles &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Characteristic faecies &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Short fourth metacarpal &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*High arched palate &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Extensive and chronic inflammation/infection of the ear &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Hearing loss &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 4 year old child.jpg|left|thumb|150px|Figure 11: Four-year-old girl with Turner syndrome. Note somewhat broad chest, prominent ears and ptosis, but otherwise normal proportion. There is no pronounced neck webbing or edema.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Adolescent/Adult'''&lt;br /&gt;
|&lt;br /&gt;
*Absence of breast development by 13 yr of age &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Pubertal arrest &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Primary or secondary amenorrhoea&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Unexplained short stature &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Renal abnormalities &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Immune disorders &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 35 year old woman.jpg|none|thumb|150px|Figure 12: A Thirty-five-year-old woman with Turner syndrome. Note increased carrying angle of arms, broad flat chest and sexual infantilism, but the lack of pronounced neck webbing or peripheral edema.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Since an absence of the physical signs of puberty and/or growth failure are often seen as normal variations in the population, these possible indications/symptoms of TS may not be further investigated by many clinicians.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20361125&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; When karyotyping in order to exclude natural cell variation, a sufficient number of cells should be assessed. Whilst a sample of blood will often reveal TS, an evaluation of a second tissue sample like the skin is recommend.&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
[[#Glossary7 | '''DNA hybridisation''']] or fluorescent in situ hybridisation should be conducted using a Y centromeric or short arm probe to detect for any additional Y or X chromosomal material.&lt;br /&gt;
If there is any of the Y chromosome present, this may initiate gonadoblastoma development, another primary indicator of TS. Hence the individual should have both a vaginal [[#Glossary28 | '''ultrasonograph''']] and colour [[#Glossary8 | '''Doppler sonograph''']] of their gonads to detect whether any Y chromosome fragments are present. These tests should be repeated regularly to monitor the patient for any malignancy, if a gonadectomy is not undertaken.&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Treatment ==&lt;br /&gt;
&lt;br /&gt;
=== Cardiac Treatment ===&lt;br /&gt;
&lt;br /&gt;
When patients are confirmed with TS, it is necessary to have a full cardiac evaulation including a physical exam and a echocardiogram. If cardiac abnormalities are found, monitoring by a cardiologist is recommended including regular blood pressure checks&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  Coarctation of the aorta and hypoplastic left heart are quite often very serious issues are need to be dealt with surgically&amp;lt;ref name=&amp;quot;PMID1273980&amp;quot;&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
If no abnormalities are found, blood pressure in TS patients is still routinely checked and a follow up cardiac evaulation is recommended for girls around the age of puberty (12-15)&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Speech ===&lt;br /&gt;
&lt;br /&gt;
Many TS patients have trouble with their speech. It is necessary for them to be refered to an Ear, Nose and Throat specialist and to a speech therapist to work on improve any speech problems&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Management of Puberty and Growth ===&lt;br /&gt;
The main treatment for growth and pubertal development is Hormone Replacement Therapy. Growth Hormone is administered to girls with abnormal growth, resulting in postive growth that is consistent with the expected height of the patient. It is administered as early as 2 years of age, but more often in the age group of 9-12 which is in line with the growth spurt that occurs during puberty&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Natural oestrogen and progesterone are administered to girls when they reach the age of puberty in early adolescence. The age at which this treatment commences varies between individuals, as does the dosage. The administration of oestrogen will begin the process of puberty in girls affected by TS and it is important that this begins around the same time as her peers&amp;lt;ref name=&amp;quot;PMID1273980&amp;quot;/&amp;gt;. The use of oestrogen is often held off if the patient is also undergoing GH treatment so that maximum growth can be achieved, as oestrogen will induce the fusion of the epiphyses and limit longitudinal bone growth&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Around 10% of nonmosaic and 20% of mosaic women with TS will have spontaneous menses (periods) and may not need to undergo Hormone Replacement to initiate puberty. Around 2-5% of these women will have the potential to fall pregnant naturally&amp;lt;ref name=&amp;quot;PMID1273980&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
=== Appearance ===&lt;br /&gt;
&lt;br /&gt;
Extreme neck webbing maybe worrying or uncomfortable to women with TS and in some cases plastic surgery is undertaken to fix this problem. Also if convex gorwth of toenails occurs, surgery is conducted so that the woman can wear normal shoes&amp;lt;ref name=&amp;quot;PMID1273980&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Ongoing Adult Treatment ===&lt;br /&gt;
&lt;br /&gt;
Closely monitoring the health of TS adults is vital in the reduction of morbidity and mortality. An annual physical evalution should be undertaken which includes, blood pressure, heart auscultation, thyroid function, breast exam, and pap smear&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  &lt;br /&gt;
&lt;br /&gt;
Particular attention needs to be taken in the area of weight and obesity in TS women due to their high risk of developing diabetes, osteoporosis and hypertension. Patients are to be encouraged to have a healthy lifestyle including healthy eating and exercise&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Research ==&lt;br /&gt;
&lt;br /&gt;
===Current research===&lt;br /&gt;
&lt;br /&gt;
Since there is no preventative or cure, currently mainly research is being conducted into the areas of symptoms, possible treatments and risks involved with TS.&lt;br /&gt;
&lt;br /&gt;
'''Growth hormone therapy in Turner syndrome: its affect on height, weight and stature.'''&lt;br /&gt;
*'''Growth hormone effect on body composition in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21720878&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research findings from this paper conclude that people with TS have lower height, higher BMI and higher proportional sitting height and leg length than that of the normal population, no matter whether they undergo hormone replacement therapy or not.&lt;br /&gt;
*'''Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21619701&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study has concluded that all adults with TS had a similar quality of life regardless of whether they have a higher stature due to undergoing growth hormone replacement therapy or not. It was hypothesised that height differences did not affect quality of life as the individuals seemed to adapt to their own life challenges.&lt;br /&gt;
*'''Growth hormone treatment for Turner syndrome in Australia reveals that younger age and increased dose interact to improve response.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21375553&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research from this study found that growth hormone therapy works most optimally if given earlier in life and at a high dose in the first year of treatment.&lt;br /&gt;
*'''Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21398400&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: Another study which confers that the early introduction of growth hormone therapy is most efficacious. However the individual's glucose metabolism should be monitored as the hormones may affect glucose tolerance transiently.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Oestrogen hormone replacement therapy in Turner syndrome: the adequate dosage and its effect on uterine development, breast development, bone mineral density and sexual characteristics.'''&lt;br /&gt;
*'''Growth hormone plus childhood low-dose oestrogen in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21449786&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study indicates that undergoing both growth hormone and oestrogen therapy together may help increase the efficacy of each (increasing growth in height and pubertal development) more than when they act alone. &lt;br /&gt;
*'''Oestrogen requirements in girls with Turner syndrome; how low is enough for initiating puberty and uterine development?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21793702&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study assessed the minimal dosage of oestrogen that is required to bring about desired pubertal development in girls with TS.&lt;br /&gt;
*'''Puberty induction in Turner syndrome: results of oestrogen treatment on development of secondary sexual characteristics, uterine dimensions and serum hormone levels.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19200215&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: It was found that uterus of women with TS who had undergone oestrogen was underdeveloped, however the exact cause of this needs to be further researched.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Pregnancy and Turner syndrome: evaluation and treatment of risks involved with pregnancy for: the mothers of Turner syndrome babies, for individuals with Turner syndrome and for the babies of individuals with Turner syndrome.'''&lt;br /&gt;
*'''Familial occurrence of Turner syndrome: casual event or increased risk?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21648298&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research examined whether there is a higher probability of having a second child with Turner syndrome and concluded that there is evidence in the small cohort that they used of a greater probability. It is suggested that a larger study be conducted to look further into these findings.that &lt;br /&gt;
*'''Obstetric Outcomes in Women with Turner Karyotype.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21865365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: In this study it was found that women with TS had shorter pregnancies than that of a control group, but no other marked difference was observed between the groups.&lt;br /&gt;
*'''Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21496813&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This paper examined a number of pregnant women with TS, some who incidentally went through puberty even though they had no hormone replacement therapy and another group that had undertaken hormone replacement therapy. Though there were not many complications in either group, the groups were small in number and one mother did have cardiovascular difficulties later on in life. Hence a thorough examination of pregnant TS women should be conducted prior to conception.&lt;br /&gt;
*'''Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20923275&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This article assessed the prognosis of pregnant women with TS. They concluded that spontaneous pregnancy increases the risk of the baby having phenotypic and chromosomal abnormalities compared with women having assisted reproductive therapies.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Future research=== &lt;br /&gt;
&lt;br /&gt;
Future research needs to be conducted in the following areas: to follow up on the suggestions given in the conclusions of current research papers as outlined in the prior section and also into how the care system is functioning for TS individuals as outlined below.&lt;br /&gt;
&lt;br /&gt;
*'''Medical Care of Girls with Turner Syndrome: Where are we Lacking?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21454226&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research found that a large proportion (&amp;gt;50%) of people with TS are not given adequate information upon diagnosis or screenings for complications and symptoms. Therefore it is suggested in order to rectify this issue that more education should be given to physicians on the syndrome&lt;br /&gt;
*'''Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21752892&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; and '''Turner's syndrome requires multidisciplinary approach.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19514616&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: These article evaluate the need for a multidisciplinary approach to treatment of TS. Since the symptoms can be wide ranging and severe, it is difficult but necessary for all of them to be examined in each individual. Hence a greater care plan for individuals should be implemented upon diagnosis.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Related Pages ==&lt;br /&gt;
&lt;br /&gt;
*[[Genital System - Abnormalities]] : Other genital abnormalities are described here, which may assist in a differential diagnosis of TS.&lt;br /&gt;
&lt;br /&gt;
*[[X Chromosome]] : A more in depth description of the structure and role of the X chromosome.&lt;br /&gt;
&lt;br /&gt;
*[[Cell Division - Meiosis]] &amp;amp; [[Oocyte Development]]  : Examination of the process of meiosis and the developing oocyte, will assist in the comprehension of why and how there is and abnormality or absence of the X chromosome.&lt;br /&gt;
&lt;br /&gt;
*[[Menstrual Cycle]] : An abnormal menstrual cycle can often be an indicator of TS, hence this information on the normal menstrual pattern is helpful in understanding more about the symptoms and diagnosis of TS.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Glossary ==&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary1&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Alpha-fetoprotein''' is a protein with an unknown function. It makes up, up to one third of the protein serum levels found in the second trimester of pregnancy and in neural tube defects, these alpha-fetoprotein levels are elevated. &amp;lt;ref name=&amp;quot;McPherson&amp;quot;&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary2&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Amniocentesis''' is a prenatal diagnostic tool. The procedure involves the sampling of amniotic fluid from the amniotic sac using a syringe, that is then tested for a number of abnormalities. &amp;lt;ref name=&amp;quot;Moore&amp;quot;&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary3&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Brachycephaly''' is a condition where the coronal suture of the skull fuses prematurely. Since the skull is unable to expand any further in the anterior-posterior directions due to this closure, it grows to an abnormal size in in the lateral dimension.&amp;lt;ref&amp;gt;Flint, P 2010, ''Flint: Cummings Otolaryngology: Head &amp;amp; Neck Surgery, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-323-05283-2..00186-5--s0045&amp;amp;isbn=978-0-323-05283-2&amp;amp;uniqId=282726024-5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary4&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Coarctation''' of the aorta is an abnormality where the aorta is constricted at one or various sections. This can be caused by genetic and/or environmental factors.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary5&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Chorionic villous sampling''' is a prenatal diagnostic tool which can be used from 7 weeks after fertilisation. It is used to test for a number of chromosomal abnormalities including X-linked and metabolic disorders.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary6&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Cystic hygroma''' is a prenatal abnormality where fluid builds up in the posterior portion of the neck. The body may or may not relieve itself naturally of this accumulation of fluid after birth. &amp;lt;ref&amp;gt;Gabbe, S 2007, ''Gabbe: Obstetrics: Normal and Problem Pregnancies, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-443-06930-7..50011-6--cesec51&amp;amp;isbn=978-0-443-06930-7&amp;amp;uniqId=282726024-10&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary7&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''DNA-DNA hybridisation''' is a technique used to compare the similarities and differences between two sets of genes.&amp;lt;ref&amp;gt;Long, S 2009, ''Bradley: Neurology in Clinical Practice, 5th ed.Long: Principles and Practice of Pediatric Infectious Diseases Revised Reprint, 3rd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X&amp;amp;isbn=978-0-7020-3468-8&amp;amp;uniqId=282726024-19#4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary8&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Doppler sonography''' uses the doppler effect to help image and measure blood flow pattern in the patient.&amp;lt;ref name=&amp;quot;Bradley&amp;quot;&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary9&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Estriol''' is a hormone that is produced in greater amounts during pregnancy especially in the second and third trimester. One of its main functions is to assist with blood flow in the placenta and uterus.&amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary10&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Gametes''' are reproductive (sex) cells (ie: eggs and sperm) that can unite to form a new cell called a zygote. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6&amp;amp;isbn=978-0-443-06811-9&amp;amp;uniqId=283289096-4#4-u1.0-B978-0-443-06811-9..10001-6--b0020&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary11&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Gonadoblastoma''' is an abnormal proliferation of gonadal cells, that may or may not be malignant.&amp;lt;ref name=&amp;quot;Wein&amp;quot;&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary12&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Haploid''' is the status of a cell having only a single set of unpaired chromosomes, or half the number of chromosomes contained in typical body cells. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary13&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''hCG''' is the abbreviation for human chorionic gonadotropin. It is a hormone that functions in the early stage of pregnancy to maintain the blood supply to the corpus luteum.&amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary14&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Homologous chromosomes''' are pairs of chromosomes, one each obtained from maternal and paternal gametes.  46 total chromosome complements are within an organism, 22 pairs of which are homologous chromosomes (called autosomes); the other 2 chromosomes are the sex chromosomes. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary15&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Hypoplasia''' is when an organ or tissue is not completely developed.&amp;lt;ref name=&amp;quot;Wein&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary16&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Inhibin A''' is a peptide produced by the ovaries and acts to restrain the production of follicle-stimulating hormone.&amp;lt;ref&amp;gt;Melmed, S 2011, ''Melmed: Williams Textbook of Endocrinology, 12th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0324-5..00045-6&amp;amp;isbn=978-1-4377-0324-5&amp;amp;uniqId=282726024-25 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary17&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Karyotype''' is an individual's set of chromosomes, both their number and appearance.&amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary18&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Meiosis''' is the specific process of cell division within sex cells which halves the number of chromosomes in the cells through via two cell divisions; this is specific to germ cells only, creating haploid gametes (sex cells) from diploid cells. &amp;lt;ref name=&amp;quot;Moore2&amp;quot;&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary19&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Monosomy''' is a condition wherein a specific chromosome is completely missing within one gamete that combines with a normal gamete to form a zygote; a chromosome has no homologue, or matching chromosome, to pair with. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary20&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Mosaicism''' is when a particular type or all cells of an individual do not have the same genetic makeup. This is caused by a mutation during embryonic cell division.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary21&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Nondisjunction''' is the failure of chromosome pairs to separate entirely during either stage of Meiosis. &amp;lt;ref name=&amp;quot;Moore2&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary22&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Oligohydramnios''' is a prenatal condition, where there is an insufficient amount of amniotic fluid.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary23&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Polyhydramnios''' is a prenatal condition, where there is an excessive amount of amniotic fluid.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary24&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Random assortment''' is the idea first proposed by Gregor Mendel which states that pairs of alleles independently separate during the formation of gametes. &amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;   &lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary25&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Recombination''' is the process which by genetic material is crossed over and switched between two segments of DNA which adds to the genetic diversity of the genome.&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary26&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''SHOX gene''' is the short stature homeobox gene, that when deficient frequently results in short stature.&amp;lt;ref name=&amp;quot;PMID21325865&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary27&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Sister chromatids''' are 2 identical copies of a chromatin that are connected at a position in their center called a centromere. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;     &lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary28&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Ultrasonography''' is a medical technique that employs ultrasound frequencies to visualise a patient's internal bodily structure.&amp;lt;ref name=&amp;quot;Bradley&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== References ==&lt;br /&gt;
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{{2011Projects}}&lt;/div&gt;</summary>
		<author><name>Z3217043</name></author>
	</entry>
	<entry>
		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=77602</id>
		<title>2011 Group Project 1</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=77602"/>
		<updated>2011-10-12T22:42:23Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: /* Epidemiology */&lt;/p&gt;
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== Turner Syndrome ==&lt;br /&gt;
&lt;br /&gt;
== Introduction ==&lt;br /&gt;
&lt;br /&gt;
[[File:Karyotype.jpg|250px|thumb|right|Figure 1: The arrow indicates the presence of only one X chromosome in Karyotype &amp;lt;ref&amp;gt;www.ncbi.nlm.nih.gov/pmc/articles/PMC2910953/figure/F0002/&amp;lt;/ref&amp;gt;.]]&lt;br /&gt;
&lt;br /&gt;
Turner Syndrome (TS), named after Henry Hubert Turner who first described the syndrome in his paper in 1938,&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;4557013&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; is one of the most commonly occuring chromosomal disorders. It is caused by a complete or partial X [[#Glossary19 | '''monosomy''']] in some or all cells and occurs in approximately 1 in 2000 live births in females only. The morbidity rate of spontaneous abortions is 10% and only about 1% of fetuses survive to term. &lt;br /&gt;
&lt;br /&gt;
During normal fetal development, each ovary contain as many as 7 million oocytes. The oocytes gradually reduce to 400,000 during menarche, and during menopause fewer than 10,000 remain. However in TS, the ovaries develop normally during embryogenesis but the absence of the second X chromosome leads to an accelerated loss of oocytes, which is complete by the time the infant reaches 2 years of age. Genetically, menopause occurs before menarche and the ovaries are reduced to atrophic fibrous strands, devoid of ova and follicles (streak ovaries). Development of somatic (nongonadal) tissues that gentically resides on the missing or abnormal X chromosome are also severely affected. For example short stature is caused by a deletion of the Xp chromosome and the deletion of Xq causes gonadal dysfunction &amp;lt;ref&amp;gt;Pathologic Basis of Disease, 8th Ed. V. Kumar, R. Cotran &amp;amp; S Robbins (2007), Saunders &amp;amp; Co.&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The most frequent clinical features of TS are short stature and gonadal dysgenesis. Other features may include [[#Glossary4 | '''coarctation''']] of the aorta, renal anomalies, neck webbing and lymphoedema. People who have TS all vary in their clinical phenotype. In recent years there has been increased interest in TS due to the introduction of growth hormone treatment and there has been marked improvement in the understanding of this condition as advances in molecular genetic techniques occur. However, there is still need for further research as a multidisciplinary approach to treatment is vital in improving the quality of life of girls with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Epidemiology ==&lt;br /&gt;
&lt;br /&gt;
[[File:Stats abnormal.jpg|225px|thumb|left|Figure 2: The arrow indicates the presence of only one X chromosome in the karyotype &amp;lt;ref&amp;gt;www.ncbi.nlm.nih.gov/pmc/articles/PMC2910953/figure/F0002/&amp;lt;/ref&amp;gt;.]]&lt;br /&gt;
&lt;br /&gt;
TS affects about 1 in 2000 live-born females. There are three types of karyotypic abnormalities but the most frequently observed is the entire X chromosome deletion resulting in 45 X [[#Glossary17 | '''karyotype''']]. The remaining third have structural abnormalities of the X chromosomes and two thirds are mosaics, whereby, the maternal X is retained in two-thirds of women and the paternal X in the remainder.&lt;br /&gt;
&lt;br /&gt;
The phenotype of TS varies but involves anomalies of the sex chromosome. It could be caused by the limited amount of genetic material in these abnormal chromosomes. TS can be transmitted from mother to daughter, and thus could be described as a heredity linked syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The loss of one of the sex chromosomes in TS, occurs after the zygote has formed or just after the fusion of the [[#Glossary10 | '''gametes''']]. In 70-80% of cases the retained X chromosome is inherited from the mother. In such circumstances it has led to the different phenotypic expression of the genes present on the X chromosome depending if inherited from the maternally or paternally. The morphological differences from those retaining the maternal, compared to retaining the paternal X chromosome, have shown to have a greater incidence of cardiovascular anomalies and neck webbing. &lt;br /&gt;
&lt;br /&gt;
The missing sex chromosome could be either an X or a Y. This has clinical implications because if the Y material is present there is a risk of up to 30% of [[#Glossary11 | '''gonadoblastoma''']] developing in the dysgenetic gonads. This is because the 'gonadoblastoma locus' is located on the Y chromosome which is situated just below the centromere.&lt;br /&gt;
The inactivation of the abnormal X chromosomes is another cause that primarily affects hypogonadism phenotypically in females.  &amp;lt;ref&amp;gt;Wade, Nicholas (2009-09-15). '''&amp;quot;New Clues to Sex Anomalies in How Y Chromosomes Are Copied&amp;quot;'''. The New York Times. Retrieved 2010-05-26. http://www.nytimes.com/2009/09/15/science/15chrom.html?pagewanted=1&amp;amp;_r=1&amp;amp;hpw&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Etiology ==&lt;br /&gt;
[[File:nondisjunction.jpg|1000px|thumb|right|alt text|Figure 3: This figure shows the progeny created from normal disjunction (A), and non-disjunction during both Meiosis I (B) and Meiosis II (C).]]&lt;br /&gt;
&lt;br /&gt;
Causation of TS can be traced back to the stages of sex-cell development.  When sex cells divide through a process called [[#Glossary18 | '''meiosis''']] to create gametes, either a [[#Glossary12 | '''haploid''']] egg (for females) or sperm (for males) two divisions occur, Meiosis I and Meiosis II.  Meiosis is the main process which helps create the vast genetic diversity within all populations by allowing [[#Glossary25 | '''recombination''']] and [[#Glossary24 | '''random assortment''']].  During Meiosis I [[#Glossary14 | '''homologous chromosomes''']] are separated; following Meiosis I, [[#Glossary27 | '''sister chromatids''']] separate during Meiosis II.  If during either stage of Meiosis I or II the homologous chromosomes or sister chromatids, respectively, do not fully separate, a phenomenon can occur called [[#Glossary21 | '''nondisjunction''']].  Nondisjunction causes an uneven distribution of genetic material to each daughter nuclei.  When an uneven distribution is such that one of the gametes does not have any of a chromosome, it can combine with another normal gamete to create a fertilized egg with only one chromosome as opposed to the normal two that are found in human cells; this is called a monosomy.  When this occurs in the sex chromosomes leaving only a single X chromosome (X0 genotype) TS is created, leaving only 45 chromosomes in the zygote rather than the normal 46.  &lt;br /&gt;
&lt;br /&gt;
[[File:22+23=45.jpg|400px|thumb|right|Figure 4: 22 chromosomal egg + 23 chromosomal sperm = 45 chromsomes in zygote instead of normal 46.]]&lt;br /&gt;
&lt;br /&gt;
TS can also be created by partial monosomy or disjunctions, meaning that although a whole X chromosome is not missing, portions of it are not present or are non-functional, rendering the chromosome useless.  Any disjunction seems to be completely sporadic and have yet to be attributed to any genetic link. The only thing known for sure is that during conception a portion of or the whole second sex chromosome is not conveyed to the zygote.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;7763055&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; Because at least one X chromosome is necessary for vital functions, this condition can only be found in females.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Clinical Manifestations ==&lt;br /&gt;
&lt;br /&gt;
The following are a list of characteristics and diseases which tend to accompany, be caused by, or be related to TS.  &lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| &lt;br /&gt;
| '''Clinical Manifestations'''&lt;br /&gt;
| '''Related Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Physical Attributes'''&lt;br /&gt;
|&lt;br /&gt;
*congenital malformations (heart, urinary system, face, neck, ears) &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*gonadal dysgenesis (causes oestrogen deficiencies, which can cause infertility) &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*increased risk of fractures &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16624607&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low cortical bone mineral density (BMD) &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;/&amp;gt;&lt;br /&gt;
*middle ear infections &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*premature ovarian failure &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*short/reduced stature &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*webbed neck &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;17562588&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Webbed Neck.jpg|none|thumb|250px|Figure 5: An example of neck webbing.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Prone to Develop Autoimmune Conditions'''&lt;br /&gt;
|&lt;br /&gt;
*alopecia areata &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coeliac disease (CD) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12466343&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*psoriasis &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;/&amp;gt;&lt;br /&gt;
*thyroiditis &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*type 1 diabetes &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
|[[File:Psoriasis.jpg|none|thumb|250px|Figure 6: An example of a patient with psoriasis on their arm.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Decreased Cognition'''&lt;br /&gt;
|&lt;br /&gt;
*emotion processing difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;20014362&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*increased impulsivity &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;19750135&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low IQ score &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
*nonverbal learning disability (slow math calculations)&amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*social cognition difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*visuoperception/visuoconstruction deficit (identifying and locating is difficult due to poor visual working memory) &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Increased Risk of'''&lt;br /&gt;
|&lt;br /&gt;
*cirrhosis of the liver &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*colon and rectal cancers &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*hypothyroidism &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*inflammatory bowel disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
*morbidity and mortality &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*neurovascular disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*osteoporosis &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*ovarian failure &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*renal and gastrointestinal disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Cardiac Abnormalities''' (most serious/life threatening medical problems created by TS)&lt;br /&gt;
|&lt;br /&gt;
*absence of portal vein &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16612647&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*aortic dilatation and dissection  &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*arrhythmias &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;17015510&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*arteriosclerosis &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*biscuspid aortic valves &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*coarctation of the aorta &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*hypertension &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*ischemic heart disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*prolapsed mitral valve &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
== Diagnostic Procedures ==&lt;br /&gt;
&lt;br /&gt;
===Diagnostic Definition===&lt;br /&gt;
&lt;br /&gt;
[[File:Turner Syndrome X Chromosome Variations.jpg|thumb|right|Figure 7: Variations of the Second X Chromosome in Turner Syndrome]]&lt;br /&gt;
TS is diagnosed through both an evaluation of physical features and by analysis of the second sex chromosome. The two criteria must be met for classification of TS, an abnormality in the second sex chromosome must be found and the abnormality must be found to be expressed somehow in the individual's traits. Hence if physical characteristics are not present even when the cytogenetic criterion is met the patient is not diagnosed as having TS.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; In TS the second sex chromosome is either:&lt;br /&gt;
&lt;br /&gt;
*Completely absent (45,X)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Partially absent&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
*Forms an isochromosome (isoXq), possessing a long arm duplication (q) and being devoid of a short arm (p)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*In a ring formation (rX)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
*Is devoid of the homeobox gene, [[#Glossary26 | '''SHOX''']] (short stature homeobox), the deletion being prior to the junction between Xp22.2 and Xp22.3&amp;lt;ref name=&amp;quot;PMID21325865&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
Any of these variations of the second sex chromosome may occur with or without cell line [[#Glossary20 | '''mosaicism''']].&lt;br /&gt;
TS may be diagnosed prenatally or postnatally, using this genetic diagnostic definition coupled with an appropriate phenotypic evaluation of the individual, as outlined below.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Prenatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
The prenatal diagnostic tool for TS is karyotype screening and testing for phenotype abnormalities. If TS is diagnosed prenatally, karyotype screening and an evaluation of the individual's traits should be conducted again postnatally for confirmation of this diagnosis. TS is frequently diagnosed after karyotype screening during [[#Glossary5 | '''chorionic villous sampling''']] or [[#Glossary2 | '''amniocentesis''']].&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
The table below outlines various prenatal tests conducted and the indications that may be present in babies with TS. Although these techniques and the indications they reveal may highlight TS signs, they should not be used as sole diagnostic tools.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Technique'''&lt;br /&gt;
| '''Turner syndrome indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Ultrasound'''&lt;br /&gt;
|&lt;br /&gt;
*Increased nuchal translucency &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary6 | '''Cystic hygroma''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Coarctation of the aorta &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Left-sided cardiac defects &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary3 | '''Brachycephaly''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Renal anomalies &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary23 | '''Polyhydramnios''']] &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary22 | '''Oligohydramnios''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Growth retardation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;10599686&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Turner Syndrome Test Showing Nuchal Translucency.gif|none|thumb|400px|Figure 8: Ultrasound Test Showing Nuchal Translucency.]]&lt;br /&gt;
[[File:Turner Syndrome Test Showing Cystic Hygroma.gif|none|thumb|400px|Figure 9: Ultrasound Test Showing Cystic Hygroma.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Maternal serum screening'''&lt;br /&gt;
|&lt;br /&gt;
*Abnormal [[#Glossary1 | '''α-fetoprotein''']] levels &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary16 | '''inhibin A''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary13 | '''hCG''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal unconjugated [[#Glossary9 | '''estriol''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
|[[File: TurnerSyndromeMaternalSerumSampling.jpg|none|thumb|400px|Figure 10: Maternal Serum Sampling.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Postnatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
In postnatal diagnosis, karyotype investigation is undertaken for the individual. When a female presents with the following clinical findings, explained in table below, it is recommended that chromosomal analysis is undertaken, so that TS may be eliminated&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;:&lt;br /&gt;
{|sstyle= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Age'''&lt;br /&gt;
| '''Phenotypic manifestations/indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Baby/infant'''&lt;br /&gt;
|&lt;br /&gt;
*Oedema of the hands or feet &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Nuchal folds &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Cardiac abnormalities for example aortic dilation, bicuspid aortic valve and aortic coarctation &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Low hairline &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Low set ears &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Small mandible &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Gonadal dysgenesis &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
|&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Child'''&lt;br /&gt;
| &lt;br /&gt;
*Short stature with low growth velocity &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Turned in elbows &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Nail [[#Glossary15 | '''hypoplasia''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Hyperconvex uplifted nails &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Multiple pigmented benign birthmarks/moles &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Characteristic faecies &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Short fourth metacarpal &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*High arched palate &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Extensive and chronic inflammation/infection of the ear &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Hearing loss &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 4 year old child.jpg|left|thumb|150px|Figure 11: Four-year-old girl with Turner syndrome. Note somewhat broad chest, prominent ears and ptosis, but otherwise normal proportion. There is no pronounced neck webbing or edema.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Adolescent/Adult'''&lt;br /&gt;
|&lt;br /&gt;
*Absence of breast development by 13 yr of age &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Pubertal arrest &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Primary or secondary amenorrhoea&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Unexplained short stature &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Renal abnormalities &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Immune disorders &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 35 year old woman.jpg|none|thumb|150px|Figure 12: A Thirty-five-year-old woman with Turner syndrome. Note increased carrying angle of arms, broad flat chest and sexual infantilism, but the lack of pronounced neck webbing or peripheral edema.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Since an absence of the physical signs of puberty and/or growth failure are often seen as normal variations in the population, these possible indications/symptoms of TS may not be further investigated by many clinicians.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20361125&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; When karyotyping in order to exclude natural cell variation, a sufficient number of cells should be assessed. Whilst a sample of blood will often reveal TS, an evaluation of a second tissue sample like the skin is recommend.&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
[[#Glossary7 | '''DNA hybridisation''']] or fluorescent in situ hybridisation should be conducted using a Y centromeric or short arm probe to detect for any additional Y or X chromosomal material.&lt;br /&gt;
If there is any of the Y chromosome present, this may initiate gonadoblastoma development, another primary indicator of TS. Hence the individual should have both a vaginal [[#Glossary28 | '''ultrasonograph''']] and colour [[#Glossary8 | '''Doppler sonograph''']] of their gonads to detect whether any Y chromosome fragments are present. These tests should be repeated regularly to monitor the patient for any malignancy, if a gonadectomy is not undertaken.&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Treatment ==&lt;br /&gt;
&lt;br /&gt;
=== Cardiac Treatment ===&lt;br /&gt;
&lt;br /&gt;
When patients are confirmed with TS, it is necessary to have a full cardiac evaulation including a physical exam and a echocardiogram. If cardiac abnormalities are found, monitoring by a cardiologist is recommended including regular blood pressure checks&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  Coarctation of the aorta and hypoplastic left heart are quite often very serious issues are need to be dealt with surgically&amp;lt;ref name=&amp;quot;Hall&amp;quot;&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
If no abnormalities are found, blood pressure in TS patients is still routinely checked and a follow up cardiac evaulation is recommended for girls around the age of puberty (12-15)&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Speech ===&lt;br /&gt;
&lt;br /&gt;
Many TS patients have trouble with their speech. It is necessary for them to be refered to an Ear, Nose and Throat specialist and to a speech therapist to work on improve any speech problems&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Management of Puberty and Growth ===&lt;br /&gt;
The main treatment for growth and pubertal development is Hormone Replacement Therapy. Growth Hormone is administered to girls with abnormal growth, resulting in postive growth that is consistent with the expected height of the patient. It is administered as early as 2 years of age, but more often in the age group of 9-12 which is in line with the growth spurt that occurs during puberty&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Natural oestrogen and progesterone are administered to girls when they reach the age of puberty in early adolescence. The age at which this treatment commences varies between individuals, as does the dosage. The administration of oestrogen will begin the process of puberty in girls affected by TS and it is important that this begins around the same time as her peers&amp;lt;ref name=&amp;quot;Hall&amp;quot;/&amp;gt;. The use of oestrogen is often held off if the patient is also undergoing GH treatment so that maximum growth can be achieved, as oestrogen will induce the fusion of the epiphyses and limit longitudinal bone growth&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Around 10% of nonmosaic and 20% of mosaic women with TS will have spontaneous menses (periods) and may not need to undergo Hormone Replacement to initiate puberty. Around 2-5% of these women will have the potential to fall pregnant naturally&amp;lt;ref name=&amp;quot;Hall&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
=== Appearance ===&lt;br /&gt;
&lt;br /&gt;
Extreme neck webbing maybe worrying or uncomfortable to women with TS and in some cases plastic surgery is undertaken to fix this problem. Also if convex gorwth of toenails occurs, surgery is conducted so that the woman can wear normal shoes&amp;lt;ref name=&amp;quot;Hall&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Ongoing Adult Treatment ===&lt;br /&gt;
&lt;br /&gt;
Closely monitoring the health of TS adults is vital in the reduction of morbidity and mortality. An annual physical evalution should be undertaken which includes, blood pressure, heart auscultation, thyroid function, breast exam, and pap smear&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  &lt;br /&gt;
&lt;br /&gt;
Particular attention needs to be taken in the area of weight and obesity in TS women due to their high risk of developing diabetes, osteoporosis and hypertension. Patients are to be encouraged to have a healthy lifestyle including healthy eating and exercise&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Research ==&lt;br /&gt;
&lt;br /&gt;
===Current research===&lt;br /&gt;
&lt;br /&gt;
Since there is no preventative or cure, currently mainly research is being conducted into the areas of symptoms, possible treatments and risks involved with TS.&lt;br /&gt;
&lt;br /&gt;
'''Growth hormone therapy in Turner syndrome: its affect on height, weight and stature.'''&lt;br /&gt;
*'''Growth hormone effect on body composition in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21720878&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research findings from this paper conclude that people with TS have lower height, higher BMI and higher proportional sitting height and leg length than that of the normal population, no matter whether they undergo hormone replacement therapy or not.&lt;br /&gt;
*'''Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21619701&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study has concluded that all adults with TS had a similar quality of life regardless of whether they have a higher stature due to undergoing growth hormone replacement therapy or not. It was hypothesised that height differences did not affect quality of life as the individuals seemed to adapt to their own life challenges.&lt;br /&gt;
*'''Growth hormone treatment for Turner syndrome in Australia reveals that younger age and increased dose interact to improve response.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21375553&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research from this study found that growth hormone therapy works most optimally if given earlier in life and at a high dose in the first year of treatment.&lt;br /&gt;
*'''Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21398400&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: Another study which confers that the early introduction of growth hormone therapy is most efficacious. However the individual's glucose metabolism should be monitored as the hormones may affect glucose tolerance transiently.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Oestrogen hormone replacement therapy in Turner syndrome: the adequate dosage and its effect on uterine development, breast development, bone mineral density and sexual characteristics.'''&lt;br /&gt;
*'''Growth hormone plus childhood low-dose oestrogen in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21449786&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study indicates that undergoing both growth hormone and oestrogen therapy together may help increase the efficacy of each (increasing growth in height and pubertal development) more than when they act alone. &lt;br /&gt;
*'''Oestrogen requirements in girls with Turner syndrome; how low is enough for initiating puberty and uterine development?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21793702&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study assessed the minimal dosage of oestrogen that is required to bring about desired pubertal development in girls with TS.&lt;br /&gt;
*'''Puberty induction in Turner syndrome: results of oestrogen treatment on development of secondary sexual characteristics, uterine dimensions and serum hormone levels.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19200215&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: It was found that uterus of women with TS who had undergone oestrogen was underdeveloped, however the exact cause of this needs to be further researched.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Pregnancy and Turner syndrome: evaluation and treatment of risks involved with pregnancy for: the mothers of Turner syndrome babies, for individuals with Turner syndrome and for the babies of individuals with Turner syndrome.'''&lt;br /&gt;
*'''Familial occurrence of Turner syndrome: casual event or increased risk?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21648298&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research examined whether there is a higher probability of having a second child with Turner syndrome and concluded that there is evidence in the small cohort that they used of a greater probability. It is suggested that a larger study be conducted to look further into these findings.that &lt;br /&gt;
*'''Obstetric Outcomes in Women with Turner Karyotype.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21865365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: In this study it was found that women with TS had shorter pregnancies than that of a control group, but no other marked difference was observed between the groups.&lt;br /&gt;
*'''Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21496813&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This paper examined a number of pregnant women with TS, some who incidentally went through puberty even though they had no hormone replacement therapy and another group that had undertaken hormone replacement therapy. Though there were not many complications in either group, the groups were small in number and one mother did have cardiovascular difficulties later on in life. Hence a thorough examination of pregnant TS women should be conducted prior to conception.&lt;br /&gt;
*'''Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20923275&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This article assessed the prognosis of pregnant women with TS. They concluded that spontaneous pregnancy increases the risk of the baby having phenotypic and chromosomal abnormalities compared with women having assisted reproductive therapies.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Future research=== &lt;br /&gt;
&lt;br /&gt;
Future research needs to be conducted in the following areas: to follow up on the suggestions given in the conclusions of current research papers as outlined in the prior section and also into how the care system is functioning for TS individuals as outlined below.&lt;br /&gt;
&lt;br /&gt;
*'''Medical Care of Girls with Turner Syndrome: Where are we Lacking?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21454226&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research found that a large proportion (&amp;gt;50%) of people with TS are not given adequate information upon diagnosis or screenings for complications and symptoms. Therefore it is suggested in order to rectify this issue that more education should be given to physicians on the syndrome&lt;br /&gt;
*'''Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21752892&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; and '''Turner's syndrome requires multidisciplinary approach.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19514616&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: These article evaluate the need for a multidisciplinary approach to treatment of TS. Since the symptoms can be wide ranging and severe, it is difficult but necessary for all of them to be examined in each individual. Hence a greater care plan for individuals should be implemented upon diagnosis.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Related Pages ==&lt;br /&gt;
&lt;br /&gt;
*[[Genital System - Abnormalities]] : Other genital abnormalities are described here, which may assist in a differential diagnosis of TS.&lt;br /&gt;
&lt;br /&gt;
*[[X Chromosome]] : A more in depth description of the structure and role of the X chromosome.&lt;br /&gt;
&lt;br /&gt;
*[[Cell Division - Meiosis]] : Examination of the process of meiosis, will assist in the comprehension of why and how there is and abnormality or absence of the X chromosome.&lt;br /&gt;
&lt;br /&gt;
*[[Menstrual Cycle]] : An abnormal menstrual cycle can often be an indicator of TS, hence this information on the normal menstrual pattern is helpful in understanding more about the symptoms and diagnosis of TS.&lt;br /&gt;
&lt;br /&gt;
*[[Oocyte Development]] :&lt;br /&gt;
&lt;br /&gt;
== Glossary ==&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary1&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Alpha-fetoprotein''' is a protein with an unknown function. It makes up, up to one third of the protein serum levels found in the second trimester of pregnancy and in neural tube defects, these alpha-fetoprotein levels are elevated. &amp;lt;ref name=&amp;quot;McPherson&amp;quot;&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary2&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Amniocentesis''' is a prenatal diagnostic tool. The procedure involves the sampling of amniotic fluid from the amniotic sac using a syringe, that is then tested for a number of abnormalities. &amp;lt;ref name=&amp;quot;Moore&amp;quot;&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary3&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Brachycephaly''' is a condition where the coronal suture of the skull fuses prematurely. Since the skull is unable to expand any further in the anterior-posterior directions due to this closure, it grows to an abnormal size in in the lateral dimension.&amp;lt;ref&amp;gt;Flint, P 2010, ''Flint: Cummings Otolaryngology: Head &amp;amp; Neck Surgery, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-323-05283-2..00186-5--s0045&amp;amp;isbn=978-0-323-05283-2&amp;amp;uniqId=282726024-5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary4&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Coarctation''' of the aorta is an abnormality where the aorta is constricted at one or various sections. This can be caused by genetic and/or environmental factors.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary5&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Chorionic villous sampling''' is a prenatal diagnostic tool which can be used from 7 weeks after fertilisation. It is used to test for a number of chromosomal abnormalities including X-linked and metabolic disorders.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary6&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Cystic hygroma''' is a prenatal abnormality where fluid builds up in the posterior portion of the neck. The body may or may not relieve itself naturally of this accumulation of fluid after birth. &amp;lt;ref&amp;gt;Gabbe, S 2007, ''Gabbe: Obstetrics: Normal and Problem Pregnancies, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-443-06930-7..50011-6--cesec51&amp;amp;isbn=978-0-443-06930-7&amp;amp;uniqId=282726024-10&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary7&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''DNA-DNA hybridisation''' is a technique used to compare the similarities and differences between two sets of genes.&amp;lt;ref&amp;gt;Long, S 2009, ''Bradley: Neurology in Clinical Practice, 5th ed.Long: Principles and Practice of Pediatric Infectious Diseases Revised Reprint, 3rd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X&amp;amp;isbn=978-0-7020-3468-8&amp;amp;uniqId=282726024-19#4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary8&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Doppler sonography''' uses the doppler effect to help image and measure blood flow pattern in the patient.&amp;lt;ref name=&amp;quot;Bradley&amp;quot;&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary9&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Estriol''' is a hormone that is produced in greater amounts during pregnancy especially in the second and third trimester. One of its main functions is to assist with blood flow in the placenta and uterus.&amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary10&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Gametes''' are reproductive (sex) cells (ie: eggs and sperm) that can unite to form a new cell called a zygote. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6&amp;amp;isbn=978-0-443-06811-9&amp;amp;uniqId=283289096-4#4-u1.0-B978-0-443-06811-9..10001-6--b0020&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary11&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Gonadoblastoma''' is an abnormal proliferation of gonadal cells, that may or may not be malignant.&amp;lt;ref name=&amp;quot;Wein&amp;quot;&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary12&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Haploid''' is the status of a cell having only a single set of unpaired chromosomes, or half the number of chromosomes contained in typical body cells. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary13&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''hCG''' is the abbreviation for human chorionic gonadotropin. It is a hormone that functions in the early stage of pregnancy to maintain the blood supply to the corpus luteum.&amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary14&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Homologous chromosomes''' are pairs of chromosomes, one each obtained from maternal and paternal gametes.  46 total chromosome complements are within an organism, 22 pairs of which are homologous chromosomes (called autosomes); the other 2 chromosomes are the sex chromosomes. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary15&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Hypoplasia''' is when an organ or tissue is not completely developed.&amp;lt;ref name=&amp;quot;Wein&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary16&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Inhibin A''' is a peptide produced by the ovaries and acts to restrain the production of follicle-stimulating hormone.&amp;lt;ref&amp;gt;Melmed, S 2011, ''Melmed: Williams Textbook of Endocrinology, 12th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0324-5..00045-6&amp;amp;isbn=978-1-4377-0324-5&amp;amp;uniqId=282726024-25 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary17&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Karyotype''' is an individual's set of chromosomes, both their number and appearance.&amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary18&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Meiosis''' is the specific process of cell division within sex cells which halves the number of chromosomes in the cells through via two cell divisions; this is specific to germ cells only, creating haploid gametes (sex cells) from diploid cells. &amp;lt;ref name=&amp;quot;Moore2&amp;quot;&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary19&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Monosomy''' is a condition wherein a specific chromosome is completely missing within one gamete that combines with a normal gamete to form a zygote; a chromosome has no homologue, or matching chromosome, to pair with. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary20&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Mosaicism''' is when a particular type or all cells of an individual do not have the same genetic makeup. This is caused by a mutation during embryonic cell division.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary21&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Nondisjunction''' is the failure of chromosome pairs to separate entirely during either stage of Meiosis. &amp;lt;ref name=&amp;quot;Moore2&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary22&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Oligohydramnios''' is a prenatal condition, where there is an insufficient amount of amniotic fluid.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary23&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Polyhydramnios''' is a prenatal condition, where there is an excessive amount of amniotic fluid.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary24&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Random assortment''' is the idea first proposed by Gregor Mendel which states that pairs of alleles independently separate during the formation of gametes. &amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;   &lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary25&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Recombination''' is the process which by genetic material is crossed over and switched between two segments of DNA which adds to the genetic diversity of the genome.&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary26&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''SHOX gene''' is the short stature homeobox gene, that when deficient frequently results in short stature.&amp;lt;ref name=&amp;quot;PMID21325865&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary27&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Sister chromatids''' are 2 identical copies of a chromatin that are connected at a position in their center called a centromere. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;     &lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary28&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Ultrasonography''' is a medical technique that employs ultrasound frequencies to visualise a patient's internal bodily structure.&amp;lt;ref name=&amp;quot;Bradley&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== References ==&lt;br /&gt;
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{{2011Projects}}&lt;/div&gt;</summary>
		<author><name>Z3217043</name></author>
	</entry>
	<entry>
		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=77599</id>
		<title>2011 Group Project 1</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=77599"/>
		<updated>2011-10-12T22:40:58Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: /* Epidemiology */&lt;/p&gt;
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== Turner Syndrome ==&lt;br /&gt;
&lt;br /&gt;
== Introduction ==&lt;br /&gt;
&lt;br /&gt;
[[File:Karyotype.jpg|250px|thumb|right|Figure 1: The arrow indicates the presence of only one X chromosome in Karyotype &amp;lt;ref&amp;gt;www.ncbi.nlm.nih.gov/pmc/articles/PMC2910953/figure/F0002/&amp;lt;/ref&amp;gt;.]]&lt;br /&gt;
&lt;br /&gt;
Turner Syndrome (TS), named after Henry Hubert Turner who first described the syndrome in his paper in 1938,&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;4557013&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; is one of the most commonly occuring chromosomal disorders. It is caused by a complete or partial X [[#Glossary19 | '''monosomy''']] in some or all cells and occurs in approximately 1 in 2000 live births in females only. The morbidity rate of spontaneous abortions is 10% and only about 1% of fetuses survive to term. &lt;br /&gt;
&lt;br /&gt;
During normal fetal development, each ovary contain as many as 7 million oocytes. The oocytes gradually reduce to 400,000 during menarche, and during menopause fewer than 10,000 remain. However in TS, the ovaries develop normally during embryogenesis but the absence of the second X chromosome leads to an accelerated loss of oocytes, which is complete by the time the infant reaches 2 years of age. Genetically, menopause occurs before menarche and the ovaries are reduced to atrophic fibrous strands, devoid of ova and follicles (streak ovaries). Development of somatic (nongonadal) tissues that gentically resides on the missing or abnormal X chromosome are also severely affected. For example short stature is caused by a deletion of the Xp chromosome and the deletion of Xq causes gonadal dysfunction &amp;lt;ref&amp;gt;Pathologic Basis of Disease, 8th Ed. V. Kumar, R. Cotran &amp;amp; S Robbins (2007), Saunders &amp;amp; Co.&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The most frequent clinical features of TS are short stature and gonadal dysgenesis. Other features may include [[#Glossary4 | '''coarctation''']] of the aorta, renal anomalies, neck webbing and lymphoedema. People who have TS all vary in their clinical phenotype. In recent years there has been increased interest in TS due to the introduction of growth hormone treatment and there has been marked improvement in the understanding of this condition as advances in molecular genetic techniques occur. However, there is still need for further research as a multidisciplinary approach to treatment is vital in improving the quality of life of girls with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Epidemiology ==&lt;br /&gt;
&lt;br /&gt;
[[File:Stats abnormal.jpg|225px|thumb|left|Figure 2: The arrow indicates the presence of only one X chromosome in the karyotype &amp;lt;ref&amp;gt;www.ncbi.nlm.nih.gov/pmc/articles/PMC2910953/figure/F0002/&amp;lt;/ref&amp;gt;.]]&lt;br /&gt;
&lt;br /&gt;
TS affects about 1 in 2000 live-born females. There are three types of karyotypic abnormalities but the most frequently observed is the entire X chromosome deletion resulting in 45 X [[#Glossary17 | '''karyotype''']]. The remaining third have structural abnormalities of the X chromosomes and two thirds are mosaics. Whereby, the maternal X is retained in two-thirds of women and the paternal X in the remainder.&lt;br /&gt;
&lt;br /&gt;
The phenotype of TS varies but involves anomalies of the sex chromosome. It could be caused by the limited amount of genetic material in these abnormal chromosomes. TS can be transmitted from mother to daughter, and thus could be described as a heredity linked syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The loss of one of the sex chromosomes in TS, occurs after the zygote has formed or just after the fusion of the [[#Glossary10 | '''gametes''']]. In 70-80% of cases the retained X chromosome is inherited from the mother. In such circumstances it has led to the different phenotypic expression of the genes present on the X chromosome depending if inherited from the maternally or paternally. The morphological differences from those retaining the maternal, compared to retaining the paternal X chromosome, have shown to have a greater incidence of cardiovascular anomalies and neck webbing. &lt;br /&gt;
&lt;br /&gt;
The missing sex chromosome could be either an X or a Y. This has clinical implications because if the Y material is present there is a risk of up to 30% of [[#Glossary11 | '''gonadoblastoma''']] developing in the dysgenetic gonads. This is because the 'gonadoblastoma locus' is located on the Y chromosome which is situated just below the centromere.&lt;br /&gt;
The inactivation of the abnormal X chromosomes is another cause that primarily affects hypogonadism phenotypically in females.  &amp;lt;ref&amp;gt;Wade, Nicholas (2009-09-15). '''&amp;quot;New Clues to Sex Anomalies in How Y Chromosomes Are Copied&amp;quot;'''. The New York Times. Retrieved 2010-05-26. http://www.nytimes.com/2009/09/15/science/15chrom.html?pagewanted=1&amp;amp;_r=1&amp;amp;hpw&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Etiology ==&lt;br /&gt;
[[File:nondisjunction.jpg|1000px|thumb|right|alt text|Figure 3: This figure shows the progeny created from normal disjunction (A), and non-disjunction during both Meiosis I (B) and Meiosis II (C).]]&lt;br /&gt;
&lt;br /&gt;
Causation of TS can be traced back to the stages of sex-cell development.  When sex cells divide through a process called [[#Glossary18 | '''meiosis''']] to create gametes, either a [[#Glossary12 | '''haploid''']] egg (for females) or sperm (for males) two divisions occur, Meiosis I and Meiosis II.  Meiosis is the main process which helps create the vast genetic diversity within all populations by allowing [[#Glossary25 | '''recombination''']] and [[#Glossary24 | '''random assortment''']].  During Meiosis I [[#Glossary14 | '''homologous chromosomes''']] are separated; following Meiosis I, [[#Glossary27 | '''sister chromatids''']] separate during Meiosis II.  If during either stage of Meiosis I or II the homologous chromosomes or sister chromatids, respectively, do not fully separate, a phenomenon can occur called [[#Glossary21 | '''nondisjunction''']].  Nondisjunction causes an uneven distribution of genetic material to each daughter nuclei.  When an uneven distribution is such that one of the gametes does not have any of a chromosome, it can combine with another normal gamete to create a fertilized egg with only one chromosome as opposed to the normal two that are found in human cells; this is called a monosomy.  When this occurs in the sex chromosomes leaving only a single X chromosome (X0 genotype) TS is created, leaving only 45 chromosomes in the zygote rather than the normal 46.  &lt;br /&gt;
&lt;br /&gt;
[[File:22+23=45.jpg|400px|thumb|right|Figure 4: 22 chromosomal egg + 23 chromosomal sperm = 45 chromsomes in zygote instead of normal 46.]]&lt;br /&gt;
&lt;br /&gt;
TS can also be created by partial monosomy or disjunctions, meaning that although a whole X chromosome is not missing, portions of it are not present or are non-functional, rendering the chromosome useless.  Any disjunction seems to be completely sporadic and have yet to be attributed to any genetic link. The only thing known for sure is that during conception a portion of or the whole second sex chromosome is not conveyed to the zygote.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;7763055&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; Because at least one X chromosome is necessary for vital functions, this condition can only be found in females.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Clinical Manifestations ==&lt;br /&gt;
&lt;br /&gt;
The following are a list of characteristics and diseases which tend to accompany, be caused by, or be related to TS.  &lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| &lt;br /&gt;
| '''Clinical Manifestations'''&lt;br /&gt;
| '''Related Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Physical Attributes'''&lt;br /&gt;
|&lt;br /&gt;
*congenital malformations (heart, urinary system, face, neck, ears) &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*gonadal dysgenesis (causes oestrogen deficiencies, which can cause infertility) &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*increased risk of fractures &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16624607&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low cortical bone mineral density (BMD) &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;/&amp;gt;&lt;br /&gt;
*middle ear infections &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*premature ovarian failure &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*short/reduced stature &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*webbed neck &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;17562588&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Webbed Neck.jpg|none|thumb|250px|Figure 5: An example of neck webbing.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Prone to Develop Autoimmune Conditions'''&lt;br /&gt;
|&lt;br /&gt;
*alopecia areata &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coeliac disease (CD) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12466343&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*psoriasis &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;/&amp;gt;&lt;br /&gt;
*thyroiditis &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*type 1 diabetes &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
|[[File:Psoriasis.jpg|none|thumb|250px|Figure 6: An example of a patient with psoriasis on their arm.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Decreased Cognition'''&lt;br /&gt;
|&lt;br /&gt;
*emotion processing difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;20014362&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*increased impulsivity &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;19750135&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low IQ score &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
*nonverbal learning disability (slow math calculations)&amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*social cognition difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*visuoperception/visuoconstruction deficit (identifying and locating is difficult due to poor visual working memory) &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Increased Risk of'''&lt;br /&gt;
|&lt;br /&gt;
*cirrhosis of the liver &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*colon and rectal cancers &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*hypothyroidism &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*inflammatory bowel disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
*morbidity and mortality &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*neurovascular disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*osteoporosis &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*ovarian failure &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*renal and gastrointestinal disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Cardiac Abnormalities''' (most serious/life threatening medical problems created by TS)&lt;br /&gt;
|&lt;br /&gt;
*absence of portal vein &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16612647&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*aortic dilatation and dissection  &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*arrhythmias &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;17015510&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*arteriosclerosis &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*biscuspid aortic valves &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*coarctation of the aorta &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*hypertension &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*ischemic heart disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*prolapsed mitral valve &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
== Diagnostic Procedures ==&lt;br /&gt;
&lt;br /&gt;
===Diagnostic Definition===&lt;br /&gt;
&lt;br /&gt;
[[File:Turner Syndrome X Chromosome Variations.jpg|thumb|right|Figure 7: Variations of the Second X Chromosome in Turner Syndrome]]&lt;br /&gt;
TS is diagnosed through both an evaluation of physical features and by analysis of the second sex chromosome. The two criteria must be met for classification of TS, an abnormality in the second sex chromosome must be found and the abnormality must be found to be expressed somehow in the individual's traits. Hence if physical characteristics are not present even when the cytogenetic criterion is met the patient is not diagnosed as having TS.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; In TS the second sex chromosome is either:&lt;br /&gt;
&lt;br /&gt;
*Completely absent (45,X)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Partially absent&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
*Forms an isochromosome (isoXq), possessing a long arm duplication (q) and being devoid of a short arm (p)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*In a ring formation (rX)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
*Is devoid of the homeobox gene, [[#Glossary26 | '''SHOX''']] (short stature homeobox), the deletion being prior to the junction between Xp22.2 and Xp22.3&amp;lt;ref name=&amp;quot;PMID21325865&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
Any of these variations of the second sex chromosome may occur with or without cell line [[#Glossary20 | '''mosaicism''']].&lt;br /&gt;
TS may be diagnosed prenatally or postnatally, using this genetic diagnostic definition coupled with an appropriate phenotypic evaluation of the individual, as outlined below.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Prenatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
The prenatal diagnostic tool for TS is karyotype screening and testing for phenotype abnormalities. If TS is diagnosed prenatally, karyotype screening and an evaluation of the individual's traits should be conducted again postnatally for confirmation of this diagnosis. TS is frequently diagnosed after karyotype screening during [[#Glossary5 | '''chorionic villous sampling''']] or [[#Glossary2 | '''amniocentesis''']].&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
The table below outlines various prenatal tests conducted and the indications that may be present in babies with TS. Although these techniques and the indications they reveal may highlight TS signs, they should not be used as sole diagnostic tools.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Technique'''&lt;br /&gt;
| '''Turner syndrome indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Ultrasound'''&lt;br /&gt;
|&lt;br /&gt;
*Increased nuchal translucency &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary6 | '''Cystic hygroma''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Coarctation of the aorta &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Left-sided cardiac defects &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary3 | '''Brachycephaly''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Renal anomalies &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary23 | '''Polyhydramnios''']] &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary22 | '''Oligohydramnios''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Growth retardation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;10599686&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Turner Syndrome Test Showing Nuchal Translucency.gif|none|thumb|400px|Figure 8: Ultrasound Test Showing Nuchal Translucency.]]&lt;br /&gt;
[[File:Turner Syndrome Test Showing Cystic Hygroma.gif|none|thumb|400px|Figure 9: Ultrasound Test Showing Cystic Hygroma.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Maternal serum screening'''&lt;br /&gt;
|&lt;br /&gt;
*Abnormal [[#Glossary1 | '''α-fetoprotein''']] levels &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary16 | '''inhibin A''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary13 | '''hCG''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal unconjugated [[#Glossary9 | '''estriol''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
|[[File: TurnerSyndromeMaternalSerumSampling.jpg|none|thumb|400px|Figure 10: Maternal Serum Sampling.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Postnatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
In postnatal diagnosis, karyotype investigation is undertaken for the individual. When a female presents with the following clinical findings, explained in table below, it is recommended that chromosomal analysis is undertaken, so that TS may be eliminated&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;:&lt;br /&gt;
{|sstyle= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Age'''&lt;br /&gt;
| '''Phenotypic manifestations/indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Baby/infant'''&lt;br /&gt;
|&lt;br /&gt;
*Oedema of the hands or feet &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Nuchal folds &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Cardiac abnormalities for example aortic dilation, bicuspid aortic valve and aortic coarctation &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Low hairline &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Low set ears &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Small mandible &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Gonadal dysgenesis &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
|&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Child'''&lt;br /&gt;
| &lt;br /&gt;
*Short stature with low growth velocity &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Turned in elbows &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Nail [[#Glossary15 | '''hypoplasia''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Hyperconvex uplifted nails &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Multiple pigmented benign birthmarks/moles &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Characteristic faecies &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Short fourth metacarpal &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*High arched palate &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Extensive and chronic inflammation/infection of the ear &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Hearing loss &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 4 year old child.jpg|left|thumb|150px|Figure 11: Four-year-old girl with Turner syndrome. Note somewhat broad chest, prominent ears and ptosis, but otherwise normal proportion. There is no pronounced neck webbing or edema.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Adolescent/Adult'''&lt;br /&gt;
|&lt;br /&gt;
*Absence of breast development by 13 yr of age &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Pubertal arrest &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Primary or secondary amenorrhoea&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Unexplained short stature &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Renal abnormalities &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Immune disorders &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 35 year old woman.jpg|none|thumb|150px|Figure 12: A Thirty-five-year-old woman with Turner syndrome. Note increased carrying angle of arms, broad flat chest and sexual infantilism, but the lack of pronounced neck webbing or peripheral edema.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Since an absence of the physical signs of puberty and/or growth failure are often seen as normal variations in the population, these possible indications/symptoms of TS may not be further investigated by many clinicians.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20361125&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; When karyotyping in order to exclude natural cell variation, a sufficient number of cells should be assessed. Whilst a sample of blood will often reveal TS, an evaluation of a second tissue sample like the skin is recommend.&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
[[#Glossary7 | '''DNA hybridisation''']] or fluorescent in situ hybridisation should be conducted using a Y centromeric or short arm probe to detect for any additional Y or X chromosomal material.&lt;br /&gt;
If there is any of the Y chromosome present, this may initiate gonadoblastoma development, another primary indicator of TS. Hence the individual should have both a vaginal [[#Glossary28 | '''ultrasonograph''']] and colour [[#Glossary8 | '''Doppler sonograph''']] of their gonads to detect whether any Y chromosome fragments are present. These tests should be repeated regularly to monitor the patient for any malignancy, if a gonadectomy is not undertaken.&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Treatment ==&lt;br /&gt;
&lt;br /&gt;
=== Cardiac Treatment ===&lt;br /&gt;
&lt;br /&gt;
When patients are confirmed with TS, it is necessary to have a full cardiac evaulation including a physical exam and a echocardiogram. If cardiac abnormalities are found, monitoring by a cardiologist is recommended including regular blood pressure checks&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  Coarctation of the aorta and hypoplastic left heart are quite often very serious issues are need to be dealt with surgically&amp;lt;ref name=&amp;quot;Hall&amp;quot;&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
If no abnormalities are found, blood pressure in TS patients is still routinely checked and a follow up cardiac evaulation is recommended for girls around the age of puberty (12-15)&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Speech ===&lt;br /&gt;
&lt;br /&gt;
Many TS patients have trouble with their speech. It is necessary for them to be refered to an Ear, Nose and Throat specialist and to a speech therapist to work on improve any speech problems&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Management of Puberty and Growth ===&lt;br /&gt;
The main treatment for growth and pubertal development is Hormone Replacement Therapy. Growth Hormone is administered to girls with abnormal growth, resulting in postive growth that is consistent with the expected height of the patient. It is administered as early as 2 years of age, but more often in the age group of 9-12 which is in line with the growth spurt that occurs during puberty&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Natural oestrogen and progesterone are administered to girls when they reach the age of puberty in early adolescence. The age at which this treatment commences varies between individuals, as does the dosage. The administration of oestrogen will begin the process of puberty in girls affected by TS and it is important that this begins around the same time as her peers&amp;lt;ref name=&amp;quot;Hall&amp;quot;/&amp;gt;. The use of oestrogen is often held off if the patient is also undergoing GH treatment so that maximum growth can be achieved, as oestrogen will induce the fusion of the epiphyses and limit longitudinal bone growth&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Around 10% of nonmosaic and 20% of mosaic women with TS will have spontaneous menses (periods) and may not need to undergo Hormone Replacement to initiate puberty. Around 2-5% of these women will have the potential to fall pregnant naturally&amp;lt;ref name=&amp;quot;Hall&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
=== Appearance ===&lt;br /&gt;
&lt;br /&gt;
Extreme neck webbing maybe worrying or uncomfortable to women with TS and in some cases plastic surgery is undertaken to fix this problem. Also if convex gorwth of toenails occurs, surgery is conducted so that the woman can wear normal shoes&amp;lt;ref name=&amp;quot;Hall&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Ongoing Adult Treatment ===&lt;br /&gt;
&lt;br /&gt;
Closely monitoring the health of TS adults is vital in the reduction of morbidity and mortality. An annual physical evalution should be undertaken which includes, blood pressure, heart auscultation, thyroid function, breast exam, and pap smear&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  &lt;br /&gt;
&lt;br /&gt;
Particular attention needs to be taken in the area of weight and obesity in TS women due to their high risk of developing diabetes, osteoporosis and hypertension. Patients are to be encouraged to have a healthy lifestyle including healthy eating and exercise&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Research ==&lt;br /&gt;
&lt;br /&gt;
===Current research===&lt;br /&gt;
&lt;br /&gt;
Since there is no preventative or cure, currently mainly research is being conducted into the areas of symptoms, possible treatments and risks involved with TS.&lt;br /&gt;
&lt;br /&gt;
'''Growth hormone therapy in Turner syndrome: its affect on height, weight and stature.'''&lt;br /&gt;
*'''Growth hormone effect on body composition in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21720878&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research findings from this paper conclude that people with TS have lower height, higher BMI and higher proportional sitting height and leg length than that of the normal population, no matter whether they undergo hormone replacement therapy or not.&lt;br /&gt;
*'''Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21619701&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study has concluded that all adults with TS had a similar quality of life regardless of whether they have a higher stature due to undergoing growth hormone replacement therapy or not. It was hypothesised that height differences did not affect quality of life as the individuals seemed to adapt to their own life challenges.&lt;br /&gt;
*'''Growth hormone treatment for Turner syndrome in Australia reveals that younger age and increased dose interact to improve response.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21375553&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research from this study found that growth hormone therapy works most optimally if given earlier in life and at a high dose in the first year of treatment.&lt;br /&gt;
*'''Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21398400&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: Another study which confers that the early introduction of growth hormone therapy is most efficacious. However the individual's glucose metabolism should be monitored as the hormones may affect glucose tolerance transiently.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Oestrogen hormone replacement therapy in Turner syndrome: the adequate dosage and its effect on uterine development, breast development, bone mineral density and sexual characteristics.'''&lt;br /&gt;
*'''Growth hormone plus childhood low-dose oestrogen in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21449786&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study indicates that undergoing both growth hormone and oestrogen therapy together may help increase the efficacy of each (increasing growth in height and pubertal development) more than when they act alone. &lt;br /&gt;
*'''Oestrogen requirements in girls with Turner syndrome; how low is enough for initiating puberty and uterine development?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21793702&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study assessed the minimal dosage of oestrogen that is required to bring about desired pubertal development in girls with TS.&lt;br /&gt;
*'''Puberty induction in Turner syndrome: results of oestrogen treatment on development of secondary sexual characteristics, uterine dimensions and serum hormone levels.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19200215&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: It was found that uterus of women with TS who had undergone oestrogen was underdeveloped, however the exact cause of this needs to be further researched.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Pregnancy and Turner syndrome: evaluation and treatment of risks involved with pregnancy for: the mothers of Turner syndrome babies, for individuals with Turner syndrome and for the babies of individuals with Turner syndrome.'''&lt;br /&gt;
*'''Familial occurrence of Turner syndrome: casual event or increased risk?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21648298&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research examined whether there is a higher probability of having a second child with Turner syndrome and concluded that there is evidence in the small cohort that they used of a greater probability. It is suggested that a larger study be conducted to look further into these findings.that &lt;br /&gt;
*'''Obstetric Outcomes in Women with Turner Karyotype.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21865365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: In this study it was found that women with TS had shorter pregnancies than that of a control group, but no other marked difference was observed between the groups.&lt;br /&gt;
*'''Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21496813&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This paper examined a number of pregnant women with TS, some who incidentally went through puberty even though they had no hormone replacement therapy and another group that had undertaken hormone replacement therapy. Though there were not many complications in either group, the groups were small in number and one mother did have cardiovascular difficulties later on in life. Hence a thorough examination of pregnant TS women should be conducted prior to conception.&lt;br /&gt;
*'''Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20923275&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This article assessed the prognosis of pregnant women with TS. They concluded that spontaneous pregnancy increases the risk of the baby having phenotypic and chromosomal abnormalities compared with women having assisted reproductive therapies.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Future research=== &lt;br /&gt;
&lt;br /&gt;
Future research needs to be conducted in the following areas: to follow up on the suggestions given in the conclusions of current research papers as outlined in the prior section and also into how the care system is functioning for TS individuals as outlined below.&lt;br /&gt;
&lt;br /&gt;
*'''Medical Care of Girls with Turner Syndrome: Where are we Lacking?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21454226&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research found that a large proportion (&amp;gt;50%) of people with TS are not given adequate information upon diagnosis or screenings for complications and symptoms. Therefore it is suggested in order to rectify this issue that more education should be given to physicians on the syndrome&lt;br /&gt;
*'''Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21752892&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; and '''Turner's syndrome requires multidisciplinary approach.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19514616&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: These article evaluate the need for a multidisciplinary approach to treatment of TS. Since the symptoms can be wide ranging and severe, it is difficult but necessary for all of them to be examined in each individual. Hence a greater care plan for individuals should be implemented upon diagnosis.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Related Pages ==&lt;br /&gt;
&lt;br /&gt;
*[[Genital System - Abnormalities]] : Other genital abnormalities are described here, which may assist in a differential diagnosis of TS.&lt;br /&gt;
&lt;br /&gt;
*[[X Chromosome]] : A more in depth description of the structure and role of the X chromosome.&lt;br /&gt;
&lt;br /&gt;
*[[Cell Division - Meiosis]] : Examination of the process of meiosis, will assist in the comprehension of why and how there is and abnormality or absence of the X chromosome.&lt;br /&gt;
&lt;br /&gt;
*[[Menstrual Cycle]] : An abnormal menstrual cycle can often be an indicator of TS, hence this information on the normal menstrual pattern is helpful in understanding more about the symptoms and diagnosis of TS.&lt;br /&gt;
&lt;br /&gt;
*[[Oocyte Development]] :&lt;br /&gt;
&lt;br /&gt;
== Glossary ==&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary1&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Alpha-fetoprotein''' is a protein with an unknown function. It makes up, up to one third of the protein serum levels found in the second trimester of pregnancy and in neural tube defects, these alpha-fetoprotein levels are elevated. &amp;lt;ref name=&amp;quot;McPherson&amp;quot;&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary2&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Amniocentesis''' is a prenatal diagnostic tool. The procedure involves the sampling of amniotic fluid from the amniotic sac using a syringe, that is then tested for a number of abnormalities. &amp;lt;ref name=&amp;quot;Moore&amp;quot;&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary3&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Brachycephaly''' is a condition where the coronal suture of the skull fuses prematurely. Since the skull is unable to expand any further in the anterior-posterior directions due to this closure, it grows to an abnormal size in in the lateral dimension.&amp;lt;ref&amp;gt;Flint, P 2010, ''Flint: Cummings Otolaryngology: Head &amp;amp; Neck Surgery, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-323-05283-2..00186-5--s0045&amp;amp;isbn=978-0-323-05283-2&amp;amp;uniqId=282726024-5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary4&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Coarctation''' of the aorta is an abnormality where the aorta is constricted at one or various sections. This can be caused by genetic and/or environmental factors.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary5&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Chorionic villous sampling''' is a prenatal diagnostic tool which can be used from 7 weeks after fertilisation. It is used to test for a number of chromosomal abnormalities including X-linked and metabolic disorders.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary6&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Cystic hygroma''' is a prenatal abnormality where fluid builds up in the posterior portion of the neck. The body may or may not relieve itself naturally of this accumulation of fluid after birth. &amp;lt;ref&amp;gt;Gabbe, S 2007, ''Gabbe: Obstetrics: Normal and Problem Pregnancies, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-443-06930-7..50011-6--cesec51&amp;amp;isbn=978-0-443-06930-7&amp;amp;uniqId=282726024-10&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary7&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''DNA-DNA hybridisation''' is a technique used to compare the similarities and differences between two sets of genes.&amp;lt;ref&amp;gt;Long, S 2009, ''Bradley: Neurology in Clinical Practice, 5th ed.Long: Principles and Practice of Pediatric Infectious Diseases Revised Reprint, 3rd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X&amp;amp;isbn=978-0-7020-3468-8&amp;amp;uniqId=282726024-19#4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary8&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Doppler sonography''' uses the doppler effect to help image and measure blood flow pattern in the patient.&amp;lt;ref name=&amp;quot;Bradley&amp;quot;&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary9&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Estriol''' is a hormone that is produced in greater amounts during pregnancy especially in the second and third trimester. One of its main functions is to assist with blood flow in the placenta and uterus.&amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary10&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Gametes''' are reproductive (sex) cells (ie: eggs and sperm) that can unite to form a new cell called a zygote. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6&amp;amp;isbn=978-0-443-06811-9&amp;amp;uniqId=283289096-4#4-u1.0-B978-0-443-06811-9..10001-6--b0020&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary11&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Gonadoblastoma''' is an abnormal proliferation of gonadal cells, that may or may not be malignant.&amp;lt;ref name=&amp;quot;Wein&amp;quot;&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary12&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Haploid''' is the status of a cell having only a single set of unpaired chromosomes, or half the number of chromosomes contained in typical body cells. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary13&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''hCG''' is the abbreviation for human chorionic gonadotropin. It is a hormone that functions in the early stage of pregnancy to maintain the blood supply to the corpus luteum.&amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary14&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Homologous chromosomes''' are pairs of chromosomes, one each obtained from maternal and paternal gametes.  46 total chromosome complements are within an organism, 22 pairs of which are homologous chromosomes (called autosomes); the other 2 chromosomes are the sex chromosomes. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary15&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Hypoplasia''' is when an organ or tissue is not completely developed.&amp;lt;ref name=&amp;quot;Wein&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary16&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Inhibin A''' is a peptide produced by the ovaries and acts to restrain the production of follicle-stimulating hormone.&amp;lt;ref&amp;gt;Melmed, S 2011, ''Melmed: Williams Textbook of Endocrinology, 12th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0324-5..00045-6&amp;amp;isbn=978-1-4377-0324-5&amp;amp;uniqId=282726024-25 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary17&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Karyotype''' is an individual's set of chromosomes, both their number and appearance.&amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary18&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Meiosis''' is the specific process of cell division within sex cells which halves the number of chromosomes in the cells through via two cell divisions; this is specific to germ cells only, creating haploid gametes (sex cells) from diploid cells. &amp;lt;ref name=&amp;quot;Moore2&amp;quot;&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary19&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Monosomy''' is a condition wherein a specific chromosome is completely missing within one gamete that combines with a normal gamete to form a zygote; a chromosome has no homologue, or matching chromosome, to pair with. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary20&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Mosaicism''' is when a particular type or all cells of an individual do not have the same genetic makeup. This is caused by a mutation during embryonic cell division.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary21&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Nondisjunction''' is the failure of chromosome pairs to separate entirely during either stage of Meiosis. &amp;lt;ref name=&amp;quot;Moore2&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary22&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Oligohydramnios''' is a prenatal condition, where there is an insufficient amount of amniotic fluid.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary23&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Polyhydramnios''' is a prenatal condition, where there is an excessive amount of amniotic fluid.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary24&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Random assortment''' is the idea first proposed by Gregor Mendel which states that pairs of alleles independently separate during the formation of gametes. &amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;   &lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary25&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Recombination''' is the process which by genetic material is crossed over and switched between two segments of DNA which adds to the genetic diversity of the genome.&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary26&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''SHOX gene''' is the short stature homeobox gene, that when deficient frequently results in short stature.&amp;lt;ref name=&amp;quot;PMID21325865&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary27&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Sister chromatids''' are 2 identical copies of a chromatin that are connected at a position in their center called a centromere. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;     &lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary28&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Ultrasonography''' is a medical technique that employs ultrasound frequencies to visualise a patient's internal bodily structure.&amp;lt;ref name=&amp;quot;Bradley&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== References ==&lt;br /&gt;
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{{2011Projects}}&lt;/div&gt;</summary>
		<author><name>Z3217043</name></author>
	</entry>
	<entry>
		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=Talk:2011_Group_Project_1&amp;diff=77595</id>
		<title>Talk:2011 Group Project 1</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=Talk:2011_Group_Project_1&amp;diff=77595"/>
		<updated>2011-10-12T22:29:51Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: &lt;/p&gt;
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&lt;div&gt;{{2011GroupDiscussionMH}}&lt;br /&gt;
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== Current Discussion ==&lt;br /&gt;
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Hey however is on can you please make sure you edit just the section you are working on? using the 'edit' blue writing on the right hand side of the headings for each section? I am just going through and correcting sentence structure and grammer etc. And each time I try to change a small section it goes crazy! &lt;br /&gt;
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'''Page Edits 30 Sep'''&lt;br /&gt;
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File:2011_Project_Group_1_edits.jpg|Project Page&lt;br /&gt;
File:2011_Project_Group_1-11_edits.jpg|All Groups (1-11) Project&lt;br /&gt;
File:2011_Talk_Group_1_edits.jpg|Discussion Page&lt;br /&gt;
File:2011 Talk Group 1-11 edits.jpg|All Groups (1-11) Discussion&lt;br /&gt;
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[[2011_Group_Project_1|'''Group 1''']]: [[User:z3060621]] | [[User:z3217043]] | [[User:z3217345]] | [[User:z3391078]]&lt;br /&gt;
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== Peer Reviews ==&lt;br /&gt;
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'''''Turner Syndrome (Group 1) Peer Review:'''''&lt;br /&gt;
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Introduction: This introduction is quite interesting.  It covers most topic areas that will be addressed later in the page. However, the main issue I found with the introduction is its poor grammar and sentence structure. This may slightly put the reader off when reading and we do not want this to happen – especially when you have such an interesting topic. Such examples include: “which is complete by the time the infant, is aged 2” which does not require a comma in between “infant” and “is”. &lt;br /&gt;
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Epidemiology: Once again good content but sentence structure does not make sense at times. Example: “phenotype of Turner Syndrome is varies but it involves anomalies of the sex chromosome” – delete “is” – it is not needed. Also, the abnormalities image in this section needs to be re-visited. It lacks copyright notice, the student template as well as a full reference in the information section.  The karyotype image presents with the same problems – note that “Copyright © Indian Journal of Human Genetics” is not sufficient as a copyright notice as it does not state that the information is open access and that you can re-use it.&lt;br /&gt;
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Etiology: Great information in this section and great use of the two images. They work well with the information and help the reader to visualize what you have said in words. Limited number of references in this section. Did you really obtain all of this information from the one source?&lt;br /&gt;
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Thanks have fixed the images.&lt;br /&gt;
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Clinical Manifestations: This section needs more work. It is merely a list which needs to be further expanded and explained. It may help to organize this information into a table. Also consider placing a picture in this section as it would make it more appealing to the reader.&lt;br /&gt;
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Diagnostic Procedures: I found this section to be the most well balanced and explained. The reader can tell you have done your research with the abundance of references in this section. Also, the images are very good and help depict visually what you are describing in your text. Well done with this section. &lt;br /&gt;
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Treatment: This section is sound. More work could be attributed to this section- possibly greater detail in some headings such as speech. Also, a picture once again is a good idea to include to break up the text. &lt;br /&gt;
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Current/ Future Research: Well done. It seems a lot of work has gone into this section; however maybe place the text in a different format? Possibly add a picture? But otherwise good content!&lt;br /&gt;
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Glossary: Good set-out. However, needs completion.&lt;br /&gt;
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References: This section is lacking in quality. Not all references have been referenced using the correct format. The same reference such as “↑ P Saenger, K A Wikland, G S Conway, M Davenport, C H Gravholt, R Hintz, O Hovatta, M Hultcrantz, K Landin-Wilhelmsen, A Lin, B Lippe, A M Pasquino, M B Ranke, R Rosenfeld, M Silberbach, Fifth International Symposium on Turner Syndrome Recommendations for the diagnosis and management of Turner syndrome. J. Clin. Endocrinol. Metab.: 2001, 86(7);3061-9 PMID:11443168” repeats many times in the list. It should appear as the one reference with many links to the citation, represented with numbers such as 1.1, 1.2 etc. Please see instructions for how to reference correctly in “editing basics” in the “shortcuts” tab of the wikipage on the left hand side. &lt;br /&gt;
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Overall the page displays good content and technique. Some areas need more work than others. Good luck! --[[User:Z3290808|z3290808]] 10:39, 29 September 2011 (EST)&lt;br /&gt;
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*A great level of research is represented on the Page clearly. I would like to add some comments that could be useful in making the project better. &lt;br /&gt;
*The introduction has lots of information as ( 3 paragraphs seems to be a lot for the introduction section ) It would look nicer in a shorter or summarised version and less details.  Probably an image would make it look less wordy. &lt;br /&gt;
* The images of Etiology Looks great and I like how they are labelled. Also, the highlighted words, which leads to another page are well done. &lt;br /&gt;
* Diagnosis is one of the best presented sections on the page. The balance between images and words is greatly seen. You may consider minimizing the pictures in the tables so the extra white space is removed. &lt;br /&gt;
* You have done a great job in gathering all the content into this page, I like how the Glossary is in alphabetical order. In the References, you may want to delete the repeated references. The last thing I would recommend is adding more pictures to make it more interesting and appealing especially after Diagnosis section. z3284061&lt;br /&gt;
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Turner Syndrome – Group 1&lt;br /&gt;
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*	Some editing on the “Clinical manifestations” and “Epidemiology” headings to make them start on the next line would look a bit better I think. &lt;br /&gt;
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yep made it in its section.&lt;br /&gt;
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*	Possible the addition of some images on the clinical manifestations section would be appropriate, also the idea of a table mentioned earlier by another reviewer I think would suit this sort of information well. &lt;br /&gt;
*	The glossary is perhaps a little incomplete? Only in some sections though, such as epidemiology and clinical manifestations. Other sections are well defined in glossary. &lt;br /&gt;
*	Future research section is very brief, also thought that you could possibly elaborate as to the direction that this future research is taking and what is trying to be learnt about the syndrome. &lt;br /&gt;
*	Some referencing issues with the images, namely the Epidemiology graph and the student drawn image in Diagnostic Procedures.&lt;br /&gt;
*      Overall I found the writing style very logical and succinct. Each section is covered quite well. Some errors in sentence structure and grammer however this could be fixed with a thorough proof read. &lt;br /&gt;
*	Under the clinical manifestations heading I thought that some terms used could be better defined in this section rather than just listing the conditions. Glossary could also be used, but I think overall it would make this section much more informative. &lt;br /&gt;
*	The treatment section seemed like it could include a little more information, a little brief for some of the sub-headings.&lt;br /&gt;
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--[[User:Z3288196|Z3288196]] 10:38, 29 September 2011 (EST)&lt;br /&gt;
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Group 1:&lt;br /&gt;
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“Turner’s syndrome” should be the topic and all other sections should go under it as 1.1, 1.2, 1.3 etc.&lt;br /&gt;
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The pictures are aligned funny, which disrupts the overall formatting of the page.&lt;br /&gt;
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Excessive amounts of references in the clinical manifestations.&lt;br /&gt;
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Yes thanks thats been done by a team member already.&lt;br /&gt;
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Good student drawn picture but the prenatal diagnosis pics should have a title attached to it.&lt;br /&gt;
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Awesome glossary, but the glossary and references take up half the page. Probably because the references are duplicated.&lt;br /&gt;
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z3332178 =]&lt;br /&gt;
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Look of the presentation - A little work needs to be done on your formatting.&lt;br /&gt;
Your pictures need to be aligned with the text better. &amp;quot;Stats abnormal.jpg&amp;quot; intrudes into the text. It makes the page look a little sloppy.&lt;br /&gt;
Further, You have large blocks of texts that would be better put into tables to break down and simplify the information presented.&lt;br /&gt;
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Your clinical manifestions is very basic. It looks like you have read a number of articles and just listed terms. It would be better if each manifestation was coupled with the reason for that sign/symptom. For example, write down the term, what it means and how the non-disjuntion causes it at a protein/molecular level.&lt;br /&gt;
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Positives - Your topic is very well researched. You seem to understand and convey that understanding very well.&lt;br /&gt;
The body of the work is done. I would suggest looking at other pages and presenting/formatting yours so that it looks a little neater.&lt;br /&gt;
GOOD JOB!&lt;br /&gt;
--[[User:Z3290618|Ziggy Harrison-Tikisci]] 10:15, 29 September 2011 (EST)&lt;br /&gt;
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'''Group 1:'''&lt;br /&gt;
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*Intro: good, brief, easy to understand. An image may have made it more interesting? Could be good to write in something about females being the only gender affected. Needs proofreading.&lt;br /&gt;
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*Epidemiology: I found the image layout slightly distracting, aligning these nicely would make reading easier. Needs to be proofread.&lt;br /&gt;
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*Etiology: I liked the hyperlinks but it would be better if you could link the words to its actual place in the Glossary. &lt;br /&gt;
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*clinical manifestations: good section, maybe instead of just listing it, you could explain it a bit as well, or put it in a table. Layout looks a bit awkward in one massive column, list after list.&lt;br /&gt;
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*diagnostic procedures: really liked the drawings here, esp the student drawn image. But the table seems a little too big, maybe make pictures a bit smaller.&lt;br /&gt;
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*overall: needs to be proofread. Headings and subheadings flow in a nice sequence.&lt;br /&gt;
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yes thanks still in the process.&lt;br /&gt;
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--[[User:Z3290558|z3290558]] 09:54, 29 September 2011 (EST)&lt;br /&gt;
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'''Group 1 peer review'''&lt;br /&gt;
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Please organise the overall layout of this website. For example you could  distribute the images so that the majority are not on just one side.It will also be nice if the website is spread out so that the headings are neat.&lt;br /&gt;
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Introduction: A great overview of all the section. However, the use of more easy language in the introduction will be good. For example ‘partial X monosomy’ is a hard concept to understand. Maybe you should elaborate or repharse it using easier terminology. A nice picture related to the introduction content would be nice.&lt;br /&gt;
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its been placed in glossary. &lt;br /&gt;
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thanks have done it but will be rephrasing more...&lt;br /&gt;
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Epidemiology: Some sentences are difficult to understand, such as ‘The morphological differences from those retaining the maternal compared to retaining the paternal X is have shown to have a greater incidence of cardiovascular anomalies and neck webbing.’ The information in this table is good but because there are copyright issues what about drawing a chart yourself. Perhaps you could base it on this chart but put the percentages into a table. I believe this will allow you to go around the copyright issues (should probably check with Mark)&lt;br /&gt;
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its not a image taken by a journal. Ive put it in a table format from a journal. &lt;br /&gt;
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Etiology: The links to the glossary is great and user friendly.&lt;br /&gt;
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Clinical Manifestation: Including some images will attract the reader's attention. A table format will also improve the layout. An explanation or a link to the glossary for difficult terms may help the reader. An example is 'alopecia areata'&lt;br /&gt;
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Diagnositic Procedures: There is a good balance of text and images. I especially like the hand drawn image.&lt;br /&gt;
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Treatment: There are good heading in this sections which divide the information into segments which can be read easily. However, reorganising the order of the information in a logical manner would be good. Maybe you would arrange it according to the age group that each treatments are targeted to.&lt;br /&gt;
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--[[User:Z3289301|z3289301]] 09:36, 29 September 2011 (EST)&lt;br /&gt;
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'''Peer Review'''&lt;br /&gt;
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Overall, this wiki is very easy to read and very well researched. However a lot issues need to be addressed:&lt;br /&gt;
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:*It would be better if the Introduction was split into two parts; maybe dedicate a section for History. &lt;br /&gt;
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:*A history timeline would be appreciated.&lt;br /&gt;
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:*Would be a lot better if the first thing to mention of Turner Syndrome was the fact it is female only.&lt;br /&gt;
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Ive mentioned female abnormalities throughout but i did it only once mentioned ONLY so should that be fine?&lt;br /&gt;
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:*A few grammar errors noticed; needs to be proofread.&lt;br /&gt;
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:*Could use more pictures; a picture every section.&lt;br /&gt;
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:*Graph at Epidemiology is not referenced properly even after Mark Hill addressed the issue. Needs to fixed ASAP.&lt;br /&gt;
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:*The glossary in incomplete and I don't like the break-up of the alphabet letters in every title; I find it very distracting.&lt;br /&gt;
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:*References are constantly repeated. This does not have 150 individual references. I find it misleading and a quick check at the wiki help site can fix this.&lt;br /&gt;
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--[[User:Z3293267|z3293267]] 06:42, 29 September 2011 (EST)&lt;br /&gt;
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'''Peer Review'''&lt;br /&gt;
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*Intro: It’s best to introduce the disease with an image or shock factor or the most interesting aspect of the disease. When you start with stats (eg: 1/200 females, morbidity rate, 10%) etc, it makes it sound dull and the reader will lose interest.  &lt;br /&gt;
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*Epidemiology: The images in this section don’t state the copyright information. The images also don’t have any explanation. A major part of epidemiology is the distribution of the disease, which there is no mention of. Perhaps a world map as to where people are most commonly affected – just to make it more engaging.  &lt;br /&gt;
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*Etiology: Fantastic idea linking the words to the glossary – makes it a lot easier to read and the information is very concise. The only issue is the pyrogeny image, although its a great image, there is little explanation. Also there is only 1 reference for the entire section which is a concern. &lt;br /&gt;
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*Clinical manifestations: Bullet points are great to see after the 3 extremely word heavy previous sections, but more description is definitely required, a few diagrams or images for the most common or severe characteristics. Well referenced!&lt;br /&gt;
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*Diagnostic procedures: Quite liked the drawing, very easy to understand and interesting, but you’re missing the “inspiration” reference to the original image.  Again, great linking of words to glossary and the table format is excellent, very informative. Howver this section seems to be much longer than the other sections. &lt;br /&gt;
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*Treatment: Could definitely use some pictures  and a bit of an overall explanation before the subheadings? You mentioned GH treatment without mentioning what GH stands for. &lt;br /&gt;
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*Research: Very interesting and good to see some very recent articles cited. &lt;br /&gt;
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*Tex/Image ratio:  Already mentioned, some sections need more images. &lt;br /&gt;
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*Overall: You’re on your way, fix the image references, make it a little more visually appealing (pictures / colours) and try to make all sections relatively equally informative. &lt;br /&gt;
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--[[User:Z3290270|z3290270]] 02:40, 29 September 2011 (EST)&lt;br /&gt;
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'''Group 1 Peer Review'''&lt;br /&gt;
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•	Good sub-heading structure and overall text layout.&lt;br /&gt;
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•	 The introduction gives a good summary of the abnormality, however a few sentences could probably be worded better.&lt;br /&gt;
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•	A history sub-heading with a timeline would really add to the project.&lt;br /&gt;
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•	Your pictures are really good and they really compliment your page, however I noticed one didn’t have the correct copyright clearance, e.g. the graph ‘Common congenital malformations seen in Turner Syndrome’. Also I think the positioning of all your images would look better on the right hand side and in alignment with the text. The student drawn image is really good!&lt;br /&gt;
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•	In aetiology, I think more references are needed to show that you have done enough research in this area. I like the emphasis on important words, however I think it should be something that flows in the entire page, not only in this section. &lt;br /&gt;
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•	Nice use of tables in the Diagnosis section, however I think if you reduced the size of your images, especially in ‘Postnatal diagnosis’ you would have a neater looking table, not so much white empty space.&lt;br /&gt;
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•	The research area was very informative and very well summarised.&lt;br /&gt;
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•	You have obviously researched this abnormality to a large extent judging by the amount of references you have added, however make sure you don’t double up on references.&lt;br /&gt;
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--[[User:Z3289829|z3289829]] 02:37, 29 September 2011 (EST)&lt;br /&gt;
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'''Peer Review'''&lt;br /&gt;
Broad scope of the topic is covered both textually and pictorially. Could possibly use more references at the beginning. Referencing was otherwise entirely suitable, very in-depth. Own diagrams were used; easily understandable. The distribution of information within headings made for very smooth reading; each facet of the topic was introduced in a logical, sequential manner. Inclusion of current and future research was interesting. &amp;quot;Treatment&amp;quot; section may have been ordered better, perhaps in terms of corrections of physical appearance vs. physiological abnormalities. Some errors in grammar and punctuation were noted, but only with directed reading.&lt;br /&gt;
--[[User:Z3290689|z3290689]] 00:00, 29 September 2011 (EST)&lt;br /&gt;
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'''Peer Review for Group 1'''&lt;br /&gt;
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*Punctuation mistake in the introduction where it says ‘the infant, aged 2’. Remove the comma and the sentence will sound better&lt;br /&gt;
*The section in the introduction talking about Xp and Xq doesn’t make sense to first time readers as there is no clarification on what they are. Also in this section Turner syndrome must be spelt with a capital letter&lt;br /&gt;
*Positioning of the Karyotype image is a bit odd. Please decide which section it will clearly fall under. Also it seems to lack the copyright clearance for its use on the page&lt;br /&gt;
*Punctuate this sentence properly: ‘’ The remaining third have structural abnormalities of the X chromosomes, and two thirds are mosaics. Whereby, the maternal X is retained in two-thirds of women and the paternal X in the remainder.’’&lt;br /&gt;
*Information in the second paragraph under Epidemiology seems to me a bit irrelevant to be placed under Epidemiology. Please reconsider this information’s positioning&lt;br /&gt;
*Bar graph seems to be not referenced properly.&lt;br /&gt;
*Having the words linking to the glossary in the etiology section is great. Try to do this throughout your page.&lt;br /&gt;
*The figure in Aetiology on the right side seems to be too large for a thumb and too large for it to have text around it. It would look better of you could make it stand alone in the centre of the page without it being in a thumb.&lt;br /&gt;
*The diagram with the oocyte 22 and sperm 23 equaling to 45 seems to be falling into the Clinical Manifestations section. Please fix this.&lt;br /&gt;
*In the clinical manifestations section, it would be great if the dot points could be explained of how these features arise in your syndrome.&lt;br /&gt;
*The images of the Prenatal Diagnosis table should be explained somehow(on the page itself that is). Readers will not understand what to look for in these images&lt;br /&gt;
*Treatment section is sound and direct. Enjoyed reading it.&lt;br /&gt;
*I like the section about the current research. It gives the readers a feel on the current standing of the research in turners syndrome.&lt;br /&gt;
*After reading the Reference section I realized the references that are used more than once are not being grouped together. Please fix this up as it will look bad on your behalf.&lt;br /&gt;
*Other than that good page, well done.&lt;br /&gt;
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--[[User:Z3291317|Z3291317]] 23:42, 28 September 2011 (EST)&lt;br /&gt;
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'''Group 1'''&lt;br /&gt;
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Introduction: Good introduction. Clearly explained. An image would be good to accompany some of the text.&lt;br /&gt;
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Epidemiology: Easy to understand and good images.&lt;br /&gt;
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Etiology: The picture on the right hand side could be bigger so that it is easier to read and understand. The information is written well but seems a bit disjointed because of where the pictures are placed. Maybe move the one on the left hand side so it doesn’t break up the paragraph. &lt;br /&gt;
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Clinical manifestations: I think this section would be better in paragraphs with some of the points explained in more detail eg gonadal dysgenesis, hypothyroidism etc.&lt;br /&gt;
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Diagnosis: The text is good. The table seems a bit overtaken by images. I think it needs some more text to balance it out eg. explain what brachycephaly is.&lt;br /&gt;
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Treatment: text is good, however, some sections could be explained more clearly eg. what is coarctation of the aorta? This section needs some images.&lt;br /&gt;
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Current and future research: definitely needs some images to balance out the text.&lt;br /&gt;
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Glossary: Glossary is good. Maybe put an asterisk next to words in the project that are in the glossary.&lt;br /&gt;
--[[User:Z3291324|z3291324]] 23:15, 28 September 2011 (EST)&lt;br /&gt;
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'''Peer Assessment Group 1-Turner Syndrome'''&lt;br /&gt;
*The image in the introduction is a bit out of place, it might look better if you do a bit of reformatting&lt;br /&gt;
*The second image in the page leaves a massive gap in the page making it look incomplete&lt;br /&gt;
*The heading &amp;quot;Clinical Manifestations&amp;quot; will look better in the next line instead of starting in the middle of the page, it will make it more distinct as a major heading&lt;br /&gt;
*The list in this section is also quite long, might be a good idea to construct a table-so the idea is visible at a glance with the headings appearing side by side in the columns of a table.&lt;br /&gt;
*The table in &amp;quot;Diagnosis&amp;quot; looks great but takes up a lot of space on the page, maybe reduce the size of the images?&lt;br /&gt;
*The sentence '''Therefore it is suggested in order to rectify this issue that more education should be given to physicians on the syndrome''' under the section 'Future Research' is a little off grammatically, maybe consider proofreading this section.&lt;br /&gt;
*Another example is '''These article evaluate'''- it should read '''This article evaluates'''?&lt;br /&gt;
*Also the future research section does not  really talk about future research as such, it is more about implementing a multidisciplinary approach to treatment which should have a more appropriate heading like 'Improved Approaches to treatment plans' or something.&lt;br /&gt;
--[[User:Z3308968|Tahmina Lata]] 21:36, 28 September 2011 (EST)&lt;br /&gt;
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'''Group 1:'''&lt;br /&gt;
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•The links to the glossary are useful and a good idea, however they need to be used throughout the whole project and not just in certain sections so that it is consistent.&lt;br /&gt;
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•The student drawn image of maternal serum sampling does not contain the correct copyright information. You need to include the correct template in the information for this image.&lt;br /&gt;
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•The information is easy to understand and well structured although care is needed in some of the wording and grammar used. For example in the introduction, sentences such as “Each person who has turner syndrome all vary in their clinical phenotype” need to be reworded.&lt;br /&gt;
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•Also consistency is needed in the capitals you use with Turners Syndrome, as it changes from this to turners syndrome and Turners syndrome throughout the page. &lt;br /&gt;
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•There seems to be a good balance between the text and images which is good to keep the reader’s attention. Just be careful with the placement of some of the images as it disrupts the formatting and flow of the page.&lt;br /&gt;
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•Subheading structure is good, though some of the headings such as future research still need to have more information.&lt;br /&gt;
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•I like the table for Postnatal Diagnosis and I think the images are used well here.&lt;br /&gt;
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•The referencing needs to be fixed up as many references appear multiple times in the reference list.&lt;br /&gt;
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--[[User:Z3332183|z3332183]] 21:22, 28 September 2011 (EST)&lt;br /&gt;
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'''Peer Assessment'''&lt;br /&gt;
* Overall the page was good. There were only a few mistakes identified.&lt;br /&gt;
* The Intro was good, it described the disease and gave the reader an idea of what to expect of the page. However, it could do with an image.&lt;br /&gt;
* The graph in the epidemiology section is missing the copyright information.&lt;br /&gt;
* There doesnt seem to be enough referencing in the etiology section. However, this section was good and the links to the glossary are helpful.&lt;br /&gt;
* Clinical manifestions was well set out and easy to read. The use of referencing was good, it shows that a lot of research was done.&lt;br /&gt;
* Postnatal Diagnosis appears to be missing an image in the table.&lt;br /&gt;
* A few of the words in the glossary section are missing their definitions.&lt;br /&gt;
--[[User:Z3292953|z3292953]] 20:14, 28 September 2011 (EST)&lt;br /&gt;
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'''Group 1: Peer evaluation'''&lt;br /&gt;
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*The introduction is good because it is brief and concise. Although it would have been good if the page actually introduced the headings that you guys have. It just allows the reader to find out what to expect on your page and if they need particular information they could just jump to that section. Also it didn’t really specify that the disease is a female only disease. &lt;br /&gt;
*The epidemiology section is fine and it lists the general occurrence of the disease. The graph used in the section is very effective in illustrating the observable malformations in the population. If there are more information about the demographics of the disease it would make this section better than what it is already. Some of the criticisms on this section are the use of the karyotyping image. I think the image is a bit out of place and should be placed in another section, and lastly it would also be helpful if some of the terms are defined within the section. The glossary section is good and all but, it just makes reading the page a bit more disjointed. I think the flow of the whole page would be better if the explanations of the terms are done immediately. &lt;br /&gt;
*The etiology section is straight to the point, descriptive and informative as well. The images are used effectively and they relate back to the information given. Only a criticism is the grammar of the section, it could be improved further. For example “When an uneven distribution is such that one of the gametes does not have any of a chromosome…” it doesn’t really flow or make sense. Also if the structuring of the whole section can just be revised a bit and clean up it would be near perfect.&lt;br /&gt;
*The clinical manifestation section is too much of a list; it is not very informative or descriptive at all. Even though each characteristics of the disease were referenced very well and the reader can immediately follow the link as to where more information could be found, it would probably have been preferable if at least the main clinical manifestations were defined and described here and explain how it is actually presented in the patient. Also an image in this section would not hurt. &lt;br /&gt;
*The diagnostic procedure of the page is done pretty well especially the table. The table was very effective and it summarized the basic diagnostic tools needed in the section. My only criticism for this section is that the very last sentence is a bit confusing, if you could just fix that up a bit. There are a lot of concepts being introduced in one paragraph that it becomes very confusing. &lt;br /&gt;
*Treatment section didn’t live up to its name unfortunately. Although there is one subsection (puberty and growth) that was very informative of the actual treatment for the disease, the rest are not very helpful at all. I guess some more research needs to be done for this section of the page.&lt;br /&gt;
*I really like the research part of the page because it tells you that your page is up-to-date and that your research is up-to-date as well. It gives the reader a sense of security that the data used are not old. The use of future research is also a great idea, although would have love to see some of the page creator’s own opinion about the future direction of this page, as it allows the reader to see that the creators of the page are also being critical of the disease. &lt;br /&gt;
*I am not really a big fan of glossaries. Although it is good that you guys incorporated that in the page, I personally am not a big fan of it as it makes the reading of the page a bit disjointed. If it is possible to avoid going to the glossary and just explain some of the words in context, I believe it will make the page much better. &lt;br /&gt;
--[[User:Z3290841|z3290841]] 10:19, 29 September 2011 (EST)&lt;br /&gt;
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'''Group 1: Peer Assessment'''&lt;br /&gt;
* An image would make your introduction more engaging&lt;br /&gt;
* The second paragraph of the introduction is already quite explanatory and might fit better into aetiology/pathogenesis. Instead one or two simple but engaging sentences would be goo.&lt;br /&gt;
* The epidemiology section is good but if I wouldn't have learned about chromosomes I would feel a little confused. &lt;br /&gt;
* There are writing mistakes and there is no copyright information in the table in the epidemiology section&lt;br /&gt;
* The direct links to the glossary (blue words) in the aetiology section are great. If you would have those for all sections it would make your page look more whole&lt;br /&gt;
* There are too few references in the aetiology section&lt;br /&gt;
* Clinical Manifestations contain useful information, however it's also good to have a more detailed description. May be you could outline the most common clinical presentation a bid more explanatory.&lt;br /&gt;
* The tables in the diagnostic section are great, just a different format, so that you don't have huge white gaps would be better&lt;br /&gt;
* The treatment and research section are good. May be you could put a little introduction into the treatment section before you go straight into the subheadings.&lt;br /&gt;
* Overall, your page has a good structure and is informative. The links to the glossary are great but should be used through the whole page. A few more pictures would make your page more engaging. --z3279511 17:06, 28 September 2011 (EST)&lt;br /&gt;
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'''Group 1 Peer Assessment&amp;quot;&lt;br /&gt;
*Few grammatical errors found in the introduction, such as missing words in the sentences but overall the introduction was well written.  &lt;br /&gt;
*Would have been good to include an image in the introduction eg. Chid diagnosed with the syndrome indicating the characteristic short stature. &lt;br /&gt;
*Hyperlinks to the glossary are missing in the introduction and epidemiology sections. &lt;br /&gt;
*Images named ‘stats abnormal’ and “turner syndrome X chromosome variations” does not include any copyright information. &lt;br /&gt;
*The etiology section was well written but it would have easier to understand concepts such as ‘dysjunction’ if the image was linked after the section in paragraph that explains it. At the moment the image looks a bit random and is hard to understand the processes illustrated in it. &lt;br /&gt;
*I liked how the clinical manifestations were divided into different parts.&lt;br /&gt;
*Great use of table and images in the “Prenatal Diagnosis” section. Summarises the information quite well.&lt;br /&gt;
*The text in the ‘current research’ section is a bit heavy and confusing. Either try and summarise the key points in a table or use an image to break up the text. The information presented in the future research section seems lacking compared with the ‘current research’ section. &lt;br /&gt;
*Some words listed in the glossary do not include there definitions. &lt;br /&gt;
*Overall good work. Just small things to fix up.&lt;br /&gt;
--[[User:Z3291622|Z3291622]] 15:53, 28 September 2011 (EST)&lt;br /&gt;
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'''Group 1 Assessment'''&lt;br /&gt;
* Key Points: Clinical manifestations could probably have a better explanation, as opposed to a list? Perhaps try discussing the presentation of the disease, etc. Is there any history of the disease? Generally sections are of good length and the information is relevant.&lt;br /&gt;
* Content is difficult to assess because there are sections that are lists of terms. Many items in the project rely heavily on this point-form, especially the clinical manifestations. Perhaps try using more images to support the clinical presentation/complications of the disease, as well as the prenatal diagnosis. The diagrams are used well when they are used.&lt;br /&gt;
* Referencing is generally fine, although the first image doesn't seem to have a correct copyright license. As for the double references in the reference section, we have the same problem too!&lt;br /&gt;
* The student-drawn diagram is simple but effective, and the images chosen are adequate to the project. However, the entire project seems a little brief in each section; try to ensure that you've written everything that you can! &lt;br /&gt;
* All of the information is well-cited with a large number of sources and clearly shows that further research has been done. However, to make the project flow a bit better maybe have some more images and phrases to allow an explanation as opposed to just dot points on the work.&lt;br /&gt;
--[[User:Z3288827|Leonard Tiong]] 09:17, 28 September 2011 (EST)&lt;br /&gt;
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'''Group 1'''&lt;br /&gt;
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*An image would nicely complement your introduction. &lt;br /&gt;
*A history timeline would be nice to include&lt;br /&gt;
*A few sentences should be restructured in epidemiology &lt;br /&gt;
*Clinical manifestations should be explained a little or include an image to break up the text&lt;br /&gt;
*Nice tables in diagnosis- although some pictures should be made a little smaller&lt;br /&gt;
*The student drawn maternal serum sampling image is really good&lt;br /&gt;
*Treatment would benefit a picture&lt;br /&gt;
*Good research section&lt;br /&gt;
*Overall, good project you just need to fix a few things&lt;br /&gt;
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'''Peer Assessment 1'''&lt;br /&gt;
*Intro: sentences should be divided up into shorter ones, not 2 sentences&lt;br /&gt;
*The picture next to epidemiology may look better on the other side? Balance it with the abnormalities graph&lt;br /&gt;
*The 3rd sentence of the Epidemiology para could be worded better – you don’t need to use the word ‘remaining’&lt;br /&gt;
*Hyperlink to glossary words from intro and epidemiology (like you have in the etiology section)&lt;br /&gt;
*Clinical manifestations section is good – I like the layout&lt;br /&gt;
*Wording of Diagnosis is funny – re-read it out loud and you will see &lt;br /&gt;
*Good use of tables, but 2nd is incomplete and needs a pic for the baby box &lt;br /&gt;
*Perhaps expand on some of the treatments e.g. Speech and Future Research&lt;br /&gt;
*Current research section is confusing with so many parts bolded, maybe use different formatting or colours to break it up a bit?&lt;br /&gt;
*Referencing – some are repeated several times one after another, I think there is a way to condense them? (e.g. references 39-42 are all the same)&lt;br /&gt;
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--[[User:Z3332824|Z3332824]] 22:48, 27 September 2011 (EST)&lt;br /&gt;
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===Comments on Group Project 1===&lt;br /&gt;
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Group 1&lt;br /&gt;
*I like the introduction as it has some structure in place, just need to fix up the grammar and adjust some of the sentences as the wording used makes it difficult to read.&lt;br /&gt;
*I like the information in the sub-heading epidemiology, it flows very well, apart from a few grammar mistakes it’s fine in my opinion. The graph included at the bottom of this subheading however has no copyright info.&lt;br /&gt;
*The image under etiology could be formatted appropriately so that the text included beside it is easier to read. Fantastic use of the links to the glossary. Really, really useful. Best part about this page. How did you do it?!&lt;br /&gt;
*The images included under the sub-headings prenatal diagnosis and postnatal diagnosis are huge, reformatting would help maybes.&lt;br /&gt;
*Glossary is great, good work guys.&lt;br /&gt;
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--[[User:Z3331469|z3331469]] 06:55, 29 September 2011 (EST)&lt;br /&gt;
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Group 1: &lt;br /&gt;
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*Intro seems a bit to mundane, there is no ‘hook’ and a picture wouldn’t look bad either.&lt;br /&gt;
* Spelling and grammatical mistakes in the epidemiology also the common abnormalities table/pic has no copyright permission in the journal either.&lt;br /&gt;
* very little references in eitiology, surely all that information was gathered from somewhere. &lt;br /&gt;
* the clinical manifestations section could be put in a table, maybe with a brief description of each item listed. How about some photos in this section?&lt;br /&gt;
*  table in diagnostic procedures is good and succinct, however the picture has no copyright notification. &lt;br /&gt;
* A short table for treatment? Maybe some photos to relate the procedures used to what is being said. &lt;br /&gt;
*current &amp;amp; future research is good however the sheer amount of reading is too much, so maybe find a way to space it out? &lt;br /&gt;
*glossary is very awesome and I love the links!&lt;br /&gt;
* multiple references need to be fixed!&lt;br /&gt;
--[[User:Z3291423|z3291423]] 17:43, 27 September 2011 (EST)&lt;br /&gt;
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'''Peer Assessment'''&lt;br /&gt;
Group 1: Turners Syndrome&lt;br /&gt;
*The introduction is very extensive and provides a good overview to the website. Maybe a bit too much information/detail for the introduction.&lt;br /&gt;
* Headings and Subheadings are appropriate and demonstrate a good understanding of the topic. Information flows from each heading to the next and is quite easy to follow.&lt;br /&gt;
*Perhaps adding a few more terms to the glossary from the epidemiology section such as: ‘gonadoblastoma’. &lt;br /&gt;
* Etiology: good use of glossary, very useful&lt;br /&gt;
*Clinical Manifestations: easy to understand but perhaps consider a table format? And particularly in the physical attribute subheading, this could be improved with an image.&lt;br /&gt;
* The diagnosis section is well balanced in terms of images and text. The tables are a good idea, however could be formatted a bit differently so that the text and images are in proportion – eliminates excessive blank space in the age and phenotypic manifestation column.&lt;br /&gt;
*Research: good layout; may benefit from use of external links or links to the glossary.&lt;br /&gt;
--[[User:Z3332327|z3332327]] 14:52, 27 September 2011 (EST)&lt;br /&gt;
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'''Peer Assessment'''&lt;br /&gt;
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*Introduction terms not bold or linked to the glossary “monosomy” made the introduction most confusing. Referencing of this heading contain only links should manually reference if possible.&lt;br /&gt;
*Image from the epidemiology need to be explained of the congenital disorders from turners a small paragraph would suffice. Also similar to the introduction the referencing of the 4th reference can be found on “Pubmed” and could be referenced properly instead of having links.&lt;br /&gt;
*Etiology had good flow and genetic terms linked to glossary which was useful. Content links to the images with some elaboration, only issue is the referencing is not done properly and should be done properly.&lt;br /&gt;
*Clinical manifestation contains useful information of the disorders related though has many referencing repeating and should be fixed. Not only this but maybe the heading would be better to be below the diagnosis to have better flow to know what your diagnosing .&lt;br /&gt;
*Diagnosis has good use of tables and images to display the methods to diagnose the disorder with labelled diagrams though would be better more separation between text looks to cramped together .&lt;br /&gt;
*Treatment seems unorganised with no clear way to know what a treatment is or not as first paragraphs is a routine check-up and should be placed as another sub heading or below with management.&lt;br /&gt;
*Referencing in general should be major concern removing the repeats and those not done properly altered.&lt;br /&gt;
*Research id layout is clear with sufficient amount if description of the research done in this field.&lt;br /&gt;
*If possible timeline would be best in understanding the origin of the disorder and link to the current research.&lt;br /&gt;
z3332250 23:35, 26 September 2011 (EST)&lt;br /&gt;
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'''Group 1 - Peer assessment'''&lt;br /&gt;
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*Introduction - sentences are too long, especially the first topic sentence however, overall it was quite informative. &lt;br /&gt;
*Maybe put in the history to the disease ?&lt;br /&gt;
*Epidemiology - the images are not structured properly, it ruins the appearance of the project page. Maybe you could move the first image to the introduction section.&lt;br /&gt;
*Etiology -  Good use hyperlinks, however again the images are scattered across the page. A structured layout would make reading the information easy to read.&lt;br /&gt;
*Clinical Manifestations - Due to the image on the side of the heading I missed the entire heading. It would be a good idea to fix it up. It is nice to see lists because they are easy to read and grabbed information from but there were no explanation paragraphs after the list so it just looks like a compilation of brief information. If there were some information in the form of sentences after the points then it would make this section very informative*.&lt;br /&gt;
*Diagnostic Procedures  - A suggestion would be to make the sub-headings within the text more prominent because the images in the table make it harder to distinguish the next sub topic. In regards to the table, the use of the images were very good. Maybe you guys could make the images abit smaller though and include another column in the table expanding about the syndrome some more.&lt;br /&gt;
*Treatment  - Some of the sub-headings have information that are just one sentence long, maybe you guys could just make the whole section into paragraphs instead if you don't choose to expand on the sub topic. &lt;br /&gt;
*Research - very detailed! I like it, it is listed in a nice fashion AND has a nice explanation on the side! &lt;br /&gt;
*The glossary looks good but for referencing there is a problem of double, even triple referencing the same paper. &lt;br /&gt;
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--[[User:Z3330313|z3330313]] 19:17, 28 September 2011 (EST)&lt;br /&gt;
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GROUP 1 peer review: Turner Syndrome &lt;br /&gt;
*Introduction is informative and well summarised, however a few sentences are a bit lengthy and can be better structured so paragraphs flow easily. e.g. &amp;quot;It is caused by complete or partial X monosomy in some or all cells and occurs in approximately 1 in 2000 live female births, however the morbidity rate of spontaneous abortions is 10% and only about 1% of fetuses survive to term.&amp;quot; can be better structured. In addition there are several spelling mistakes that are distracting e.g. &amp;quot;The affected organ systems and tissues may are effected to a lesser or greater extent amongst that are affected by turner syndrome&amp;quot; - this sentence doesn't make sense at all&lt;br /&gt;
*You may also want to incorporate an image to break up the text in the intro&lt;br /&gt;
*One of the requirements for the group project is to include the history of the disease, the intro contains very minimal background information but besides this there's no evidence of research into how this disease was discovered and developments in its understanding&lt;br /&gt;
*The image beside epidemiology is obstructing the  break up of the introduction and epidemiology, you may want to fix this. This image may also be better if made a little bigger &lt;br /&gt;
*The prevalence is repeated in both intro and epidemiology, maybe just mention it in just one section&lt;br /&gt;
*Epidemiology info is very informative but really needs to be proof read, this lets down the whole section. Some of the sentences contain spelling mistakes and grammar needs to be reviewed e.g. &amp;quot;The phenotype of Turner Syndrome is varies but it involves anomalies of the sex chromosome&amp;quot; and &amp;quot;Turner Syndrome can be transmitted from mother to daughter, and thus can it could be described as a heredity linked syndrome&amp;quot;&lt;br /&gt;
*&amp;quot;The remaining third have structural abnormalities of the X chromosomes, and two thirds are mosaics. Whereby, the maternal X is retained in two-thirds of women and the paternal X in the remainder.&amp;quot; - sentences like this need to be fixed to make more sense &lt;br /&gt;
*Some sentences are also very abrupt and short, could be revised so they flow more&lt;br /&gt;
*The Karyotype image is incorrectly referenced and does not contain the copyright clearance statement, this needs to be fixed &lt;br /&gt;
*The abnormalities graph really needs fixing, not correctly referenced, no copyright clearance statement and title isn't very descriptive&lt;br /&gt;
*I really like how the words relevant to this syndrome are linked to the glossary, this really helps the reader, saving us from having to scroll down to the bottom of the page. This could be applied to the whole page&lt;br /&gt;
*The non-disjunction image is informative but needs to be properly referenced&lt;br /&gt;
*The info in etiology is very informative and comprehensive, but again grammar is a problem e.g. &amp;quot;When an uneven distribution is such that one of the gametes does not have any of a chromosome&amp;quot; -consider revising this sentence&lt;br /&gt;
*The image 22+23=45 could be better placed so that it doesn't overlap into the next section&lt;br /&gt;
*The clinical manifestations section has an extensive list, but could be improved by maybe having a paragraph or two describing these not just a link to a reference, an image of some of these manifestations may also enhance this section&lt;br /&gt;
*The diagnosis section has a good balance of text and image and there is great use of tables. Also the links to the glossary again is helpful&lt;br /&gt;
*maybe consider making the images in the table a little smaller&lt;br /&gt;
*Student drawn images are included and comprehensive&lt;br /&gt;
*Treatment and research sections are succinct and informative, easy to go through&lt;br /&gt;
* I really like the way the glossary is formatted, makes it very easy to access&lt;br /&gt;
*The extensive reference list is impressive and indicative that a lot of research has gone into this page &lt;br /&gt;
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Over all:&lt;br /&gt;
*There really needs to be thorough proof reading to correct grammar, better structure your sentences, and generally make better sense of some sentences, this particularly applies to epidemiology section&lt;br /&gt;
*You should also fix the referencing of the images, copyright statements are missing&lt;br /&gt;
--[[User:Z3331556|z3331556]] 22:08, 26 September 2011 (EST)&lt;br /&gt;
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Group 1 Peer Review&lt;br /&gt;
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*Introduction gives brief history-is there any timeline or more detailed history available?&lt;br /&gt;
*Sub headings are in a logical order, flows well&lt;br /&gt;
*Picture next to epidemiology is too small&lt;br /&gt;
*Prenatal diagnosis-well done. Good use of information&lt;br /&gt;
*Needs to be proof read especially introduction. Some structuring of sentences and paragraphs throughout page needs work&lt;br /&gt;
*Images need to be checked for correct referencing and copyright&lt;br /&gt;
*Glossary is well structured however it could be extended a little, especially in relation to the first half of site&lt;br /&gt;
*Overall referencing is well done however some duplication&lt;br /&gt;
*Overall, well researched. Most of the content is there, need to finalise presentation eg. Spelling, grammar, layout, etc.&lt;br /&gt;
--[[User:Z3308965|Fleur McGregor]] 16:36, 26 September 2011 (EST)&lt;br /&gt;
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'''Strengths:'''&lt;br /&gt;
*The alphabetisation of the glossary helps readers to search for terms more easily. I really like this bit.&lt;br /&gt;
*The link of some of the words under Etiology to Glossary is really good. The reader can directly find out the meaning of a particular word without scrolling down much.&lt;br /&gt;
*All the characteristics and diseases are supported by scientific articles. &lt;br /&gt;
*The summaries given for each of the articles under Research gives the reader a gist of each article. It gives the reader a rough idea of where research for Turner Syndrome is heading towards.&lt;br /&gt;
*Overall: It has a good flow to the page with headings and sub-headings appropriately placed.&lt;br /&gt;
'''Weaknesses:'''&lt;br /&gt;
*The wikipage needs to be vetted. There are quite a few grammatical and punctuation errors.&lt;br /&gt;
*The placements of some images are disrupting the format of the page e.g the image of “22+23=45”.&lt;br /&gt;
*There are duplication in referencing. It will be good to combine the references to only one reference number per article to avoid duplication&lt;br /&gt;
*Some of the images did not include copyright statements which allow wiki users to reuse the images e.g. the karyotype image &amp;amp; image on abnormalities.&lt;br /&gt;
*Some of the references are just website links. This will need to be corrected.&lt;br /&gt;
*History of Turner Syndrome is not available. How was the syndrome first discovered? When was it discovered?&lt;br /&gt;
'''Specific corrections:'''&lt;br /&gt;
*The second sentence of introduction “It is caused by…survive to term” is a bit too long. Breaking it into two sentences might be better.&lt;br /&gt;
*“During normal fetal development, each ovary contain as many as 7 million oocytes”. The word “contain” should be “contains”.&lt;br /&gt;
*“The oocytes gradually reduced to 400,000 during menarche and during menopause fewer than 10,000 remains.” Insert the word “are” after “oocytes”.&lt;br /&gt;
*Standardise the term “Turner Syndrome”. Either all should be “Turner Syndrome” or “Turner syndrome”&lt;br /&gt;
*“…which is complete by the time the infant, is aged 2.” The word “complete” should be “completed”.&lt;br /&gt;
*“Genetically menopause” I’m not sure what this means. Is it supposed to be “Genetically-induced menopause”?&lt;br /&gt;
*“For example short stature is caused by a deletion of the Xp chromosome and the deletion of Xq causes gonadal dysfunction”. There should be a comma after the word “example”.&lt;br /&gt;
*The image on abnormalities associated with Turner Syndrome might be more suitable to be placed under clinical manifestations.&lt;br /&gt;
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--Z3389806 22:40, 25 September 2011 (EST)&lt;br /&gt;
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'''Group 1''' &lt;br /&gt;
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*Interesting introduction, but includes quite a few spelling mistakes, make sure you correct them.&lt;br /&gt;
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*The epidemiology section includes lots of information, but the sentences make sometimes no sense, or include writing mistakes.&lt;br /&gt;
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*Maybe place the “karyotype” image on the right, it interrupts the epidemiology section.&lt;br /&gt;
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*I like the “malfunctions” image, but it looks a bit lost at this position, and lacks a copyright information.&lt;br /&gt;
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*The sperm + egg image is genius, but it disrupts the flow on the left side, so maybe put in to the right.&lt;br /&gt;
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*Clinical manifestations: the heading should be on the left edge of the page, the content is ok but would look better in a table.&lt;br /&gt;
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*Diagnostic procedures: very good section, but the tables seem a bit too big.&lt;br /&gt;
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*The treatment section looks fine, except for the “speech ” and ”appearance” part. Those could include more information.&lt;br /&gt;
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*The research section seems very well done.&lt;br /&gt;
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*The glossary is incomplete. You should decide, if you want to link the words or not, but if you do, it must be for the hole &lt;br /&gt;
page, and not only one section.&lt;br /&gt;
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*Make sure all images include a copyright notice.&lt;br /&gt;
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'''Group 1 Critique'''&lt;br /&gt;
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#•	The introduction is quite interesting. Clinical features of the disease, even if given as an example, should not be mentioned in the introduction&lt;br /&gt;
#•	The graph comparing common malformations of Turner Syndrome in the epidemiology is quite good, however it should be explained a little more clearly. Also, where is the copyright information for the graph?&lt;br /&gt;
#•	The aetiology has terms in it which are not properly explained e.g. random assortment. Give clearer explanations&lt;br /&gt;
#•	Clinical manifestations are explained ok. Maybe put it in sentence form instead of listing it in bullet points&lt;br /&gt;
#•	Diagnostic Procedures is labelled and explained ok. Maybe expand upon the techniques a little more instead of just summarizing them in a table&lt;br /&gt;
#•	Treatment is ok. Could have a little more explanation though&lt;br /&gt;
#•	Research and future research is good&lt;br /&gt;
#•	Glossary is incomplete- random assortment, sister chromatids&lt;br /&gt;
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--[[User:Z3289991|Robert Klein]] 18:26, 24 September 2011 (EST)&lt;br /&gt;
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Group 1&lt;br /&gt;
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Firstly, nice progress with the group project. After reading your page, I have a good general knowledge of Turner Syndrome, so thanks. Overall, most sections were well done, though the writing style and layout could be more consistent, but you could work on that when you've finalised the content of the page. &lt;br /&gt;
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#The key points relating to the topic that your group allocated are clearly described. &lt;br /&gt;
#* Introduction: Good intro, very first image of the karyotype should include the actual statement of the 'Open access' not just 'copyright'&lt;br /&gt;
#* Epidemiology: Grammatical errors disrupt the flow of the content, in addition, graph has no copyright info, title could be improved&lt;br /&gt;
#* Etiology: Nice simple diagram of 22 eggs and 23 sperms, good example of when a picture can tell more than a thousand words! I feel there needs to be consistency either use Turner Syndrome or TS throughout the page&lt;br /&gt;
#* Clinical: liked how you have further classified the symptoms to its associated titles, nice idea; very easy to read, but a table would also be good&lt;br /&gt;
#* Diagnosis: image of TS maternal serum sampling doesn't contain {Template:2011 Student Image}, but a very good table&lt;br /&gt;
#* image of the TS X chromosome variations shouldl contain {Template:2011 Student Image}. Furthermore, if you use A-E in image descriptions, you should include A-E within the image&lt;br /&gt;
#* Research: very good layout and explanations, informative&lt;br /&gt;
#The choice of content, headings and sub-headings, diagrams, tables, graphs show a good understanding of the topic area. &lt;br /&gt;
#* Could include more images especially in clinical manidestations, and some images do not fit the requirements set by Mark, as I've highlighted above &lt;br /&gt;
#Content is correctly cited and referenced.&lt;br /&gt;
#* seems to be cited well. However, although you have more than 100 referencees, a lot of them are repeated references, maybe you could try to use more pubmed articles, a greater variety&lt;br /&gt;
#The wiki has an element of teaching at a peer level using the student's own innovative diagrams, tables or figures and/or using interesting examples or explanations. &lt;br /&gt;
#* Glossary: could include more words such as echocardiogram&lt;br /&gt;
#Evidence of significant research relating to basic and applied sciences that goes beyond the formal teaching activities. &lt;br /&gt;
#* Although you have more than 100 referencees, a lot of them are repeated references, maybe you could try to use more pubmed articles, a greater variety&lt;br /&gt;
#Relates the topic and content of the Wiki entry to learning aims of embryology. &lt;br /&gt;
#Clearly reflects on editing/feedback from group peers and articulates how the Wiki could be improved (or not) based on peer comments/feedback. Demonstrates an ability to review own work when criticised in an open edited wiki format. Reflects on what was learned from the process of editing a peer's wiki. &lt;br /&gt;
#Evaluates own performance and that of group peers to give a rounded summary of this wiki process in terms of group effort and achievement. &lt;br /&gt;
#The content of the wiki should demonstrate to the reader that your group has researched adequately on this topic and covered the key areas necessary to inform your peers in their learning. &lt;br /&gt;
#*  Although the content is informative, I'm left feeling like I want more variety of resources, so maybe some further research will improve the overall impression of your page &lt;br /&gt;
#Develops and edits the wiki entries in accordance with the above guidelines&lt;br /&gt;
&lt;br /&gt;
&amp;quot;What would improve this project....&amp;quot;&lt;br /&gt;
* consistency in writing style&lt;br /&gt;
* more images and cited correctly&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3291643|z3291643]] 14:44, 24 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
'''Turner Syndrome'''&lt;br /&gt;
&lt;br /&gt;
*Just make sure you’re consistent with the capital letters for Turner syndrome, you’ve got ‘Turner syndrome’, ‘turner syndrome’ and ‘Turner Syndrome’ throughout the page&lt;br /&gt;
*The page looks good, just a bit of final rearrangement of the images would be even better&lt;br /&gt;
*You’ve got a lot of good information in &amp;quot;Clinical Manifestations&amp;quot; but perhaps the information would look better in a table as opposed a long list?  Some pictures wouldn’t go astray either&lt;br /&gt;
*I like the links down to the glossary, it makes it very efficient&lt;br /&gt;
*The table in &amp;quot;Diagnosis&amp;quot; looks really good, but try to shrink the pictures in it down a bit so it’s not so huge&lt;br /&gt;
*It would be good to expand some of the sections in “Treatment”, you’ve got a really good basis but you need more than one line in “Speech” etc&lt;br /&gt;
*Your &amp;quot;Research&amp;quot; is very detailed with lots of good papers&lt;br /&gt;
*Overall it is quite a good page, it just needs a little bit of reformatting &lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Group 1&lt;br /&gt;
* first glance of your project it appears that there is a lack of consistency with the image/text ratio. There are areas with lots of images and areas where there is a bulk of text with no images. It would be better if you spread the images out evenly between the sections rather than clumping them all together. &lt;br /&gt;
*The epidemiology is very word heavy. There are a number of terms in there that I think would benefit from having a link to the glossary. By the end of the section I was left feeling a little overwhelmed.&lt;br /&gt;
* The etiology section is good. Links to the glossary are very helful.&lt;br /&gt;
* The clinical manifestations is ultimately just a list. There are no images and nothing exciting about this- I was almost inclined to skip over it because it did not draw my attention. This is the perfect place to have interesting images and yet there is none. This section needs to be reformatted.&lt;br /&gt;
* The diagnostic material was easily accessible and interesting.&lt;br /&gt;
* As a whole, the information you need is all there, you just need to reformat your page so that it is more appealing and more easily accessed by the audience. &lt;br /&gt;
&lt;br /&gt;
Group 1 - Turner Syndrome&lt;br /&gt;
*'''Introduction''': The second paragraph of the introduction partly observes poor sentence structure, and in general needs a little bit more clarification. Also, I wouldn't necessarily include that information in the introduction, but put it under a different heading, etiology maybe? The following paragraph is good, just watch out with this sentence: &amp;quot;Each person who has turner syndrome all vary&amp;quot; - that doesn't quite make sense. Each person varies, or people with TS all vary...&lt;br /&gt;
*'''Epidemiology''': This sentence really doesn't make sense to me: &amp;quot;Whereby, the maternal X is retained in two-thirds of women and the paternal X in the remainder.&amp;quot; Furthermore, the whole paragraph needs editing in terms of sentence structure. The content is good, though could do with slightly more explanation.&lt;br /&gt;
*The table with the common abnormalities is good, but in a slightly random place.&lt;br /&gt;
*None of these first sections include links to the glossary. Explaining some of the terms in more detail could easily be achieved by linking them to the glossary.&lt;br /&gt;
*'''Etiology''': Be careful when saying meiosis creates genetic diversity. Yes, meiosis creates diversity by shuffling existing alleles and producing new combinations, but the underlying mechanism, which is the main drive for genetic diversity, is mutation because that is what creates new alleles. (I'm just saying this because my lecturer in genetics was very keen on making us understand this difference!) Other than that, excellent explanation of how the genotype of Turner Syndrome occurs. Considering some of the genetic component was also explained under epidemiology, it would be useful to relate this information to what has already previously been mentionned.&lt;br /&gt;
*'''Clinical Manifestations''': Poor. Referencing not done properly, no explanations, a simple list really tells hardly anything about the manifestations. Linking them to articles is useful, but not doing anything else makes the whole exercise of creating a page dedicated to a disease pointless if there won't actually be any descriptions or explanations.&lt;br /&gt;
*'''Diagnostic Procedures''':  Very well explained, good use of diagrams and figures to illustrate the text.&lt;br /&gt;
*'''Treatment''': Links to the glossary would be good. Content is good, but the referencing isn't done properly, and some figures would be nice to illustrate things, it looks a little bit dry as such a long blurb of text.&lt;br /&gt;
*'''Current research''': Looks fine to me&lt;br /&gt;
*'''Future research''': Good idea!&lt;br /&gt;
*'''Glossary''': Could be more extensive, mainly because some sections do not contain any links to the glossary.&lt;br /&gt;
*'''References''': Needs fixing. it appears as though it hasn't been done right a single time... (ie one and the same paper occurs multiple times in the list)&lt;br /&gt;
*General: There are obvious quality differences between the different sections, which is a shame. Parts are done really well, others not so much. The content and subsections would be fine if they all had the same standard as the well-written ones.&lt;br /&gt;
&lt;br /&gt;
'''Group 1'''&lt;br /&gt;
* Good overall structure with headings and subheadings, it breaks up the text and makes it easy to follow.&lt;br /&gt;
* Very interesting topic with a lot of good relevant information.&lt;br /&gt;
* Pictures and tables are great. Just make sure your pictures are referenced properly eg. karyotype picture. also it might make the page look cleaner if the pictures are either all on the left or all on the right. this also may avoid the headings being shifted. &lt;br /&gt;
* Maternal Serum Sampling, very nicely drawn, could you maybe label the picture as to what everything is so the reader can identify the structures easily. &lt;br /&gt;
* Might be nice to add in a history timeline.&lt;br /&gt;
* maybe you could use sub headings in the aetiology section.&lt;br /&gt;
* Clinical manifestations had good use of subheading and collated information. I like the simplicity of dot points... could you maybe add a picture here to break up the text and keep the reader engaged.&lt;br /&gt;
* Make sure your references aren't doubled int the list. &lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Group 1:'''&lt;br /&gt;
* The introduction is very thorough, however the use of too many statistics and scientific terms like “partial x monosomy” make it difficult to read, especially for an introduction. By hyper-linking the glossary terms or by using a simple explanation of the word in the sentence could help make this section more reader friendly. &lt;br /&gt;
* The introduction also needs to be re-read to fix little mistakes such as those in the following sentences “The affected organ systems and tissues &amp;lt;font color=red&amp;gt;may are&amp;lt;/font&amp;gt; effected to a lesser or greater extent amongst that are affected by turner syndrome.” and “However, &amp;lt;font color=red&amp;gt;there still further&amp;lt;/font&amp;gt; research to be completed.” An image added to this section also wouldn’t hurt.&lt;br /&gt;
* I would suggest that you play around with the placement of the images in the epidemiology section. Where they are placed now disrupts the flow of the text or leaves a large blank space between the next heading, which is also disruptive. The first image can be made a little larger and the second image does not have the correct copyright or title format. &lt;br /&gt;
* The epidemiology section also needs to be proof read to fix little mistakes. &lt;br /&gt;
* The etiology section is done very well, it is very easy to read and made easier with the hyper-links to the glossary.&lt;br /&gt;
* Image 1 under etiology is missing &amp;lt;nowiki&amp;gt;“{{Template:2011 Student Image}}”&amp;lt;/nowiki&amp;gt; and image 2 has a little mistake in the explanation “Complete absence of &amp;lt;font color=red&amp;gt;on&amp;lt;/font&amp;gt; effected of the X sex chromosomes...” and needs to be moved slightly so that it doesn’t indent the next heading.&lt;br /&gt;
* Nice referencing in the clinical manifestation section although the symptoms need to be explained more. What is it? What are the implications of it? A picture could be useful where text can’t explain a symptom.&lt;br /&gt;
* Diagnostic procedures section is done very well. Good balance between images, text and tables however all the images need to include&amp;lt;nowiki&amp;gt;“{{Template:2011 Student Image}}”&amp;lt;/nowiki&amp;gt;. Very good student drawn images and explained very well - I didn’t even realise they were student drawn until I read that they were! Hyper-linking to the glossary is also a bonus.&lt;br /&gt;
*Treatment is done well especially by breaking up the text into sub-headings, some spelling mistakes though such as “Also if convex &amp;lt;font color=red&amp;gt;gorwth&amp;lt;/font&amp;gt; of toenails”.&lt;br /&gt;
*Research is very informative but by bolding the reference, it makes it hard to follow and read. Maybe if you include a space in between the findings of the paper or a table could help this section.&lt;br /&gt;
*The reference section needs to be fixed as references should not be listed more than once under the reference section. Read the section on “multiple referencing” under “editing basics”.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Group 1'''&lt;br /&gt;
&lt;br /&gt;
'''*The key points relating to the topic that your group allocated are clearly described.'''&lt;br /&gt;
All main points are there and are relevant. Content on pathogenesis might be useful when used together with clinical manifestations so it allows the reader to understand why some things happen.&lt;br /&gt;
&lt;br /&gt;
'''*The choice of content, headings and sub-headings, diagrams, tables, graphs show a good understanding of the topic area.'''&lt;br /&gt;
More information on history would be good other wise everything else looks ok. Well researched but perhaps a bit more information about clinical manifestations would be good.&lt;br /&gt;
&lt;br /&gt;
'''*Content is correctly cited and referenced.'''&lt;br /&gt;
Fix up duplications on reference list. reference for Nonisjunction.jpg and Karyotype.jpg should be fixed up.&lt;br /&gt;
&lt;br /&gt;
'''*The wiki has an element of teaching at a peer level using the student's own innovative diagrams, tables or figures and/or using interesting examples or explanations.'''&lt;br /&gt;
Student drawn image provided - explanations on images are relevant to content. &lt;br /&gt;
&lt;br /&gt;
'''*Evidence of significant research relating to basic and applied sciences that goes beyond the formal teaching activities.'''&lt;br /&gt;
Explanation on how some of the main symptoms manifest would be better to demonstrate significant research done.&lt;br /&gt;
&lt;br /&gt;
'''*Relates the topic and content of the Wiki entry to learning aims of embryology.'''&lt;br /&gt;
Good content on how it occurs during faulty division.''&lt;br /&gt;
&lt;br /&gt;
'''*Develops and edits the wiki entries in accordance with the above guidelines.'''&lt;br /&gt;
The page has been developed more or less in accordance with the above guidelines.&lt;br /&gt;
&lt;br /&gt;
--z3329495 21:06, 28 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--z3290815 13:01, 28 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Group 1:&lt;br /&gt;
* Your page was extremely in depth which was really great.&lt;br /&gt;
* Its great that you’ve linked words to the glossary&lt;br /&gt;
* The use of a range of different images was good and I like how you made the effort to copyright your own image!&lt;br /&gt;
* You’re referencing needs to be tidied up; there are multiple entries from the same source that tends to clutter your reference section.  &lt;br /&gt;
* The dot point form of clinical manifestations perhaps could have been better formatted into a table as I personally found your formatting confusing and slightly not a well-organised.&lt;br /&gt;
--[[User:Z3332629|z3332629]] 15:20, 22 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Uploaded Student Images -''' Please include the following template in all uploaded image information. Copy the text shown below including the curly brackets in page view mode, and paste at the end of the information box area when uploading your image.&lt;br /&gt;
&lt;br /&gt;
&amp;lt;nowiki&amp;gt;{{Template:2011 Student Image}}&amp;lt;/nowiki&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
----&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
--[[User:S8600021|Mark Hill]] 10:44, 8 September 2011 (EST) Some of the existing sub-sections have appropriate content, but there are also empty sub-sections, a total lack of referencing/citation and no glossary. &lt;br /&gt;
* The referencing issue needs urgent  progress.&lt;br /&gt;
* Existing figures/table are appropriate. &lt;br /&gt;
* There needs to be more images in this work.&lt;br /&gt;
* Where is the student drawn figure?&lt;br /&gt;
* Project recent history shows a single group member wiring on this topic.&lt;br /&gt;
&lt;br /&gt;
== Project Assignments ==&lt;br /&gt;
&lt;br /&gt;
Hey guys I'm going to do the History and the Treatment of Thalassemia. --[[User:Z3217043|z3217043]] 10:32, 25 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
Ashley Smith- I'm doing Etiology and Clinical Manifestations --[[User:Z3391078|Ashley Smith]] 10:58, 25 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
The two sub-sections that I will be researching are diagnostic procedures and current/future research possibilities. --[[User:Z3217345|z3217345]] 11:03, 25 August 2011 (EST)&lt;br /&gt;
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&lt;br /&gt;
== Discussion Prior to First Submission ==&lt;br /&gt;
&lt;br /&gt;
So I guess we are doing Turner's Syndrome? Or are we still discussing?&lt;br /&gt;
&lt;br /&gt;
I think Thalassemia sounds really interesting and there is more scope for research/ learning something new rather than the sex chromosome abnormalities.&lt;br /&gt;
&lt;br /&gt;
Here are two articles which were interesting I found:&lt;br /&gt;
&lt;br /&gt;
[http://www.ncbi.nlm.nih.gov.wwwproxy0.library.unsw.edu.au/pubmed/21806986 A rapid detection for α-thalassemia by PCR combined with dissociation curve analysis]&lt;br /&gt;
&lt;br /&gt;
[http://www.ncbi.nlm.nih.gov.wwwproxy0.library.unsw.edu.au/pubmed/21239835 Hematopoietic stem cell transplantation in thalassemia]&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 20:24, 10 August 2011 (EST)&lt;br /&gt;
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&lt;br /&gt;
There a number of research and review articles, particularly on PubMed, so maybe post ones that you find interesting up and then we can maybe assign sections to everyone next lab so that we can further research those particular areas individually?--[[User:Z3217345|z3217345]] 13:55, 10 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
I had found two of the same articles that had already been posted, so I had to go back and find different ones.  I'm not sure if we really are going to do Turner's Sydrome since not all of us were present when we named it.  We can decide in class tomorrow I guess.  --[[User:Z3391078|Z3391078]] 02:23, 11 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
Maybe we can begin thinking about the general sections we might have? Introduction, History, Causes, Symptoms, Treatment, Prognosis, Prevention, Current Research, Future Research, Glossary? Any thoughts? --[[User:Z3217345|z3217345]] 09:00, 18 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
Here are some free full text articles that might be helpful:&lt;br /&gt;
&lt;br /&gt;
http://www.ncbi.nlm.nih.gov/pubmed/21840746&lt;br /&gt;
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http://www.ncbi.nlm.nih.gov/pubmed/16821224&lt;br /&gt;
&lt;br /&gt;
http://eje-online.org/content/151/6/657.long&lt;br /&gt;
&lt;br /&gt;
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&lt;br /&gt;
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http://jcem.endojournals.org/content/84/12/4345.long&lt;br /&gt;
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1511250/?page=1&lt;br /&gt;
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http://jcem.endojournals.org/content/86/7/3061.long&lt;br /&gt;
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3118376/?tool=pubmed&lt;br /&gt;
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2883963/?tool=pubmed&lt;br /&gt;
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http://www.ncbi.nlm.nih.gov/pubmed/20361125&lt;br /&gt;
&lt;br /&gt;
http://humupd.oxfordjournals.org/content/7/6/603.long&lt;br /&gt;
&lt;br /&gt;
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2613558/?tool=pubmed&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Hey guys, I'm sorry I'm just now getting on here so late... I've been really really sick ever since I came back from Cairns a couple days ago, then couldn't find my flashdrive that all my information was on I was going to upload. :(   I'm working on my sections now again (had to start from semi-scratch) and should have them complete by the end of the night.  &lt;br /&gt;
I'm kind of worried about the rest of the page though... It seems like only one (maybe two) other people have even contributed??? Did someone drop out of the class? We need to figure this out ASAP to pick up the slack. &lt;br /&gt;
Also, I couldn't help but notice that nothing so far has been cited...?  Maybe people are having trouble with how to cite the works? I guess we can talk about it in class on Thursday.  &lt;br /&gt;
I think it would be a good idea if we could get together sometime this weekend to work on the overall page as a group.  &lt;br /&gt;
Let me know what you all think.  &lt;br /&gt;
Ashley&lt;br /&gt;
&lt;br /&gt;
Hi Ashley,&lt;br /&gt;
I am happy to meet up this Sunday sometime if that suits you. I have completed some of my sub-sections and will put them up soon.&lt;br /&gt;
&lt;br /&gt;
Great!  I'm still working on mine... My internet kept messing up last night, so we had to get it fixed today; working on it now.  Unforunately Sunday's the ONLY day this weekend I'm not free.  We can talk more tomorrow in lecture/lab! :)  &lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Discussion Post First Submission ==&lt;br /&gt;
&lt;br /&gt;
With the etiology could ive tried placing the images in the section. but could not get it in its right position.&lt;br /&gt;
&lt;br /&gt;
All the images on pub med have not open access to it. They all need request permissino to reuse. Did anybody find any images on turner that actually says open access on it?&lt;br /&gt;
&lt;br /&gt;
guys im not sure i can put a couple of images on the section that i uploaded cos the whole copyright thing. should i delete it? im not sure i can find another image to replace it? would that be fine with u guys or should i just leave it? im just worried we going to be penalised if i cant find a re-usable comment for it.  &lt;br /&gt;
&lt;br /&gt;
Hey thanks for fixing the referencing bit i was about to have a go at it but I guess its been done :)&lt;br /&gt;
&lt;br /&gt;
Should I add more info to my section or what you guys think? I am just going to go through the peer reviews and go from there.&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3060621|z3060621]] 20:34, 5 October 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
*I've found some images, but you really have to dig into the material.  There's a plethora of pictures, so just go through until you find one that you ARE able to use.  We can't use a picture if it doesn't specifically say we can, and the first few sections should DEFINITELY have at least one picture apiece; that was a common comment from everybody.   If there's anymore information that's left out, it would be beneficial to have it in place, but I wouldn't go out of your way to find extra details if you think what you have is sufficient.  &lt;br /&gt;
&lt;br /&gt;
*I know in a lot of the comments from the class students were saying I should go into detail for each of the attributes listed under clinical manifestations... There are a lottttt of things that I found, and with 2 other final assessments due as well as work this week I simply don't have enough time to go through and put detailed information about each one...  I think it's better now that it's in the chart format, and I'm still working on getting pictures but it could prove difficult for some of them... I'm thinking that it'll be fine still just as a bullet point list without detailed descriptions of each characteristic. ANY SUGGESTIONS OR OPINIONS? &lt;br /&gt;
&lt;br /&gt;
Thanks! --[[User:Z3391078|Ashley Smith]] 02:09, 9 October 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
I also forgot to mention that I tried to reformat the Discussion page.  I know we generally don't talk via this page, so it was a bit scattered and messy.  Hopefully everyone finds this format a bit easier to use!!! :) --[[User:Z3391078|Ashley Smith]] 02:11, 9 October 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Hey guys! I just now had a chance to get on here due to the fact that I had a paper and a final due today.  I noticed no one's still added anything to the additional resources portion?  Does anyone have any ideas of what should be included here?  Just e-mail or Facebook if you have time later! --[[User:Z3391078|Ashley Smith]]&lt;br /&gt;
&lt;br /&gt;
== Concerning Discussion Contributions ==&lt;br /&gt;
&lt;br /&gt;
As far as the discussion goes, we have e-mailed back and forth on several occassions.  Also, students z3391078 and z3060621 have spoken on numerous occassions via Facebook chat because it gives instant feedback and constant conversation.  Proof of these can be given upon request.  --[[User:Z3391078|Ashley Smith]] 11:20, 6 October 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
== Research Articles ==&lt;br /&gt;
&lt;br /&gt;
[http://www.ncbi.nlm.nih.gov/pubmed/21802870 Turner syndrome and metabolic derangements: Another example of fetal programming.]--[[User:Z3217345|z3217345]] 13:44, 10 August 2011 (EST) (Prior topic)&lt;br /&gt;
&lt;br /&gt;
[http://www.ncbi.nlm.nih.gov/pubmed/21802870 Turner syndrome and sexual differentiation of the brain: implications for understanding male-biased neurodevelopmental disorders.] --[[User:Z3217345|z3217345]] 13:44, 10 August 2011 (EST)(Prior topic)&lt;br /&gt;
&lt;br /&gt;
[http://www.ncbi.nlm.nih.gov/pubmed/21793702 Estrogen requirements in girls with Turner syndrome; how low is enough for initiating puberty and uterine development?]--[[User:Z3217345|z3217345]] 13:44, 10 August 2011 (EST)(Prior topic)&lt;br /&gt;
&lt;br /&gt;
[http://www.sciencedirect.com.wwwproxy0.library.unsw.edu.au/science/article/pii/S0015028211005152 Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience.] --[[User:Z3391078|Z3391078]] 02:18, 11 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
[http://www.ncbi.nlm.nih.gov/pubmed/21813448 How I treat thalassemia]--[[User:Z3217345|z3217345]] 11:45, 11 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
[http://www.ncbi.nlm.nih.gov/pubmed/21810090 Pulmonary function in thalassaemia major and its correlation with body iron stores]--[[User:Z3217345|z3217345]] 11:45, 11 August 2011 (EST)&lt;br /&gt;
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&lt;br /&gt;
== Review Articles ==&lt;br /&gt;
&lt;br /&gt;
[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2082783/?tool=pubmed Optimising management in Turner syndrome: from infancy to adult transfer.]--[[User:Z3217345|z3217345]] 13:44, 10 August 2011 (EST)(Prior topic)&lt;br /&gt;
&lt;br /&gt;
[http://www.nlm.nih.gov/medlineplus/turnersyndrome.html Turner Syndrome] --[[User:Z3391078|Z3391078]] 02:31, 11 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
[http://www.ncbi.nlm.nih.gov/pubmed/20492708 Beta-thalassemia]--[[User:Z3217345|z3217345]] 11:45, 11 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Images ==&lt;br /&gt;
&lt;br /&gt;
I found a pic of what the cells look like under a microscope.&lt;br /&gt;
&lt;br /&gt;
[[File:Thala.jpg|200px|thumb|left|alt text]] &lt;br /&gt;
--[[User:Z3060621|Aisyah Barchia]] 19:19, 17 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
[[File:Thalassemia_pic.jpg|200px|thumb|left|Miotic Cell Defects]] --[[User:Z3217043|z3217043]] 11:06, 18 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
[[File:ThromboembolicEvents.jpg |Thromboembolic Events In Thalassemia Intermedia (TI) VS Thalassemia Major (TM)|framed|none]]--[[User:Z3217345|z3217345]] 08:57, 18 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
[[File:PULMONARY HYPERTENSION.JPG|350px|thumb|left|Pulmonary Hypertension]]&lt;br /&gt;
&lt;br /&gt;
Nothing going on here guys? There should be some discussion within your group on the possible topic. --[[User:S8600021|Mark Hill]] 23:53, 7 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
{{2011GroupDiscussionMH}}&lt;/div&gt;</summary>
		<author><name>Z3217043</name></author>
	</entry>
	<entry>
		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=77593</id>
		<title>2011 Group Project 1</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=77593"/>
		<updated>2011-10-12T22:25:32Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: /* Introduction */&lt;/p&gt;
&lt;hr /&gt;
&lt;div&gt;{{2011ProjectsMH}}&lt;br /&gt;
----&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Turner Syndrome ==&lt;br /&gt;
&lt;br /&gt;
== Introduction ==&lt;br /&gt;
&lt;br /&gt;
[[File:Karyotype.jpg|250px|thumb|right|Figure 1: The arrow indicates the presence of only one X chromosome in Karyotype &amp;lt;ref&amp;gt;www.ncbi.nlm.nih.gov/pmc/articles/PMC2910953/figure/F0002/&amp;lt;/ref&amp;gt;.]]&lt;br /&gt;
&lt;br /&gt;
Turner Syndrome (TS), named after Henry Hubert Turner who first described the syndrome in his paper in 1938,&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;4557013&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; is one of the most commonly occuring chromosomal disorders. It is caused by a complete or partial X [[#Glossary19 | '''monosomy''']] in some or all cells and occurs in approximately 1 in 2000 live births in females only. The morbidity rate of spontaneous abortions is 10% and only about 1% of fetuses survive to term. &lt;br /&gt;
&lt;br /&gt;
During normal fetal development, each ovary contain as many as 7 million oocytes. The oocytes gradually reduce to 400,000 during menarche, and during menopause fewer than 10,000 remain. However in TS, the ovaries develop normally during embryogenesis but the absence of the second X chromosome leads to an accelerated loss of oocytes, which is complete by the time the infant reaches 2 years of age. Genetically, menopause occurs before menarche and the ovaries are reduced to atrophic fibrous strands, devoid of ova and follicles (streak ovaries). Development of somatic (nongonadal) tissues that gentically resides on the missing or abnormal X chromosome are also severely affected. For example short stature is caused by a deletion of the Xp chromosome and the deletion of Xq causes gonadal dysfunction &amp;lt;ref&amp;gt;Pathologic Basis of Disease, 8th Ed. V. Kumar, R. Cotran &amp;amp; S Robbins (2007), Saunders &amp;amp; Co.&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The most frequent clinical features of TS are short stature and gonadal dysgenesis. Other features may include [[#Glossary4 | '''coarctation''']] of the aorta, renal anomalies, neck webbing and lymphoedema. People who have TS all vary in their clinical phenotype. In recent years there has been increased interest in TS due to the introduction of growth hormone treatment and there has been marked improvement in the understanding of this condition as advances in molecular genetic techniques occur. However, there is still need for further research as a multidisciplinary approach to treatment is vital in improving the quality of life of girls with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Epidemiology ==&lt;br /&gt;
&lt;br /&gt;
[[File:Stats abnormal.jpg|225px|thumb|left|Figure 2: The arrow indicates the presence of only one X chromosome in the karyotype &amp;lt;ref&amp;gt;www.ncbi.nlm.nih.gov/pmc/articles/PMC2910953/figure/F0002/&amp;lt;/ref&amp;gt;.]]&lt;br /&gt;
&lt;br /&gt;
TS affects about 1 in 2000 live-born females. There are three types of karyotypic abnormalities but the most frequently seen is where the entire X chromosome is missing resulting in 45 X [[#Glossary17 | '''karyotype''']]. The remaining third have structural abnormalities of the X chromosomes and two thirds are mosaics. Whereby, the maternal X is retained in two-thirds of women and the paternal X in the remainder.&lt;br /&gt;
&lt;br /&gt;
The phenotype of TS varies but involves anomalies of the sex chromosome. It could be caused by the limited amount of genetic material in these abnormal chromosomes. TS can be transmitted from mother to daughter, and thus could be described as a heredity linked syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The loss of one of the sex chromosomes of TS occurs after the zygote has formed or just after the fusion of the [[#Glossary10 | '''gametes''']]. In 70-80% of cases the retained X is from the mother. In such circumstances it has lead to the different phenotypic expression of the genes present on the X chromosome depending if it came from the mother or father. &lt;br /&gt;
The morphological differences from those retaining the maternal compared to retaining the paternal X have shown to have a greater incidence of cardiovascular anomalies and neck webbing. &lt;br /&gt;
&lt;br /&gt;
The missing sex chromosome could be either an X or a Y. This has clinical implications because if the Y material is present there is a risk of up to 30% of [[#Glossary11 | '''gonadoblastoma''']] developing in the dysgenetic gonads. This is because the 'gonadoblastoma locus' is on the Y chromosome which is situated just below the centromere.&lt;br /&gt;
The inactivation of the abnormal X chromosomes is another cause that primarily affects hypogonadism phenotypically in females.  &amp;lt;ref&amp;gt;Wade, Nicholas (2009-09-15). '''&amp;quot;New Clues to Sex Anomalies in How Y Chromosomes Are Copied&amp;quot;'''. The New York Times. Retrieved 2010-05-26. http://www.nytimes.com/2009/09/15/science/15chrom.html?pagewanted=1&amp;amp;_r=1&amp;amp;hpw&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Etiology ==&lt;br /&gt;
[[File:nondisjunction.jpg|1000px|thumb|right|alt text|Figure 3: This figure shows the progeny created from normal disjunction (A), and non-disjunction during both Meiosis I (B) and Meiosis II (C).]]&lt;br /&gt;
&lt;br /&gt;
Causation of TS can be traced back to the stages of sex-cell development.  When sex cells divide through a process called [[#Glossary18 | '''meiosis''']] to create gametes, either a [[#Glossary12 | '''haploid''']] egg (for females) or sperm (for males) two divisions occur, Meiosis I and Meiosis II.  Meiosis is the main process which helps create the vast genetic diversity within all populations by allowing [[#Glossary25 | '''recombination''']] and [[#Glossary24 | '''random assortment''']].  During Meiosis I [[#Glossary14 | '''homologous chromosomes''']] are separated; following Meiosis I, [[#Glossary27 | '''sister chromatids''']] separate during Meiosis II.  If during either stage of Meiosis I or II the homologous chromosomes or sister chromatids, respectively, do not fully separate, a phenomenon can occur called [[#Glossary21 | '''nondisjunction''']].  Nondisjunction causes an uneven distribution of genetic material to each daughter nuclei.  When an uneven distribution is such that one of the gametes does not have any of a chromosome, it can combine with another normal gamete to create a fertilized egg with only one chromosome as opposed to the normal two that are found in human cells; this is called a monosomy.  When this occurs in the sex chromosomes leaving only a single X chromosome (X0 genotype) TS is created, leaving only 45 chromosomes in the zygote rather than the normal 46.  &lt;br /&gt;
&lt;br /&gt;
[[File:22+23=45.jpg|400px|thumb|right|Figure 4: 22 chromosomal egg + 23 chromosomal sperm = 45 chromsomes in zygote instead of normal 46.]]&lt;br /&gt;
&lt;br /&gt;
TS can also be created by partial monosomy or disjunctions, meaning that although a whole X chromosome is not missing, portions of it are not present or are non-functional, rendering the chromosome useless.  Any disjunction seems to be completely sporadic and have yet to be attributed to any genetic link. The only thing known for sure is that during conception a portion of or the whole second sex chromosome is not conveyed to the zygote.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;7763055&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; Because at least one X chromosome is necessary for vital functions, this condition can only be found in females.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Clinical Manifestations ==&lt;br /&gt;
&lt;br /&gt;
The following are a list of characteristics and diseases which tend to accompany, be caused by, or be related to TS.  &lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| &lt;br /&gt;
| '''Clinical Manifestations'''&lt;br /&gt;
| '''Related Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Physical Attributes'''&lt;br /&gt;
|&lt;br /&gt;
*congenital malformations (heart, urinary system, face, neck, ears) &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*gonadal dysgenesis (causes oestrogen deficiencies, which can cause infertility) &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*increased risk of fractures &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16624607&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low cortical bone mineral density (BMD) &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;/&amp;gt;&lt;br /&gt;
*middle ear infections &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*premature ovarian failure &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*short/reduced stature &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*webbed neck &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;17562588&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Webbed Neck.jpg|none|thumb|250px|Figure 5: An example of neck webbing.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Prone to Develop Autoimmune Conditions'''&lt;br /&gt;
|&lt;br /&gt;
*alopecia areata &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coeliac disease (CD) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12466343&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*psoriasis &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;/&amp;gt;&lt;br /&gt;
*thyroiditis &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*type 1 diabetes &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
|[[File:Psoriasis.jpg|none|thumb|250px|Figure 6: An example of a patient with psoriasis on their arm.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Decreased Cognition'''&lt;br /&gt;
|&lt;br /&gt;
*emotion processing difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;20014362&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*increased impulsivity &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;19750135&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low IQ score &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
*nonverbal learning disability (slow math calculations)&amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*social cognition difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*visuoperception/visuoconstruction deficit (identifying and locating is difficult due to poor visual working memory) &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Increased Risk of'''&lt;br /&gt;
|&lt;br /&gt;
*cirrhosis of the liver &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*colon and rectal cancers &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*hypothyroidism &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*inflammatory bowel disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
*morbidity and mortality &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*neurovascular disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*osteoporosis &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*ovarian failure &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*renal and gastrointestinal disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Cardiac Abnormalities''' (most serious/life threatening medical problems created by TS)&lt;br /&gt;
|&lt;br /&gt;
*absence of portal vein &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16612647&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*aortic dilatation and dissection  &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*arrhythmias &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;17015510&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*arteriosclerosis &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*biscuspid aortic valves &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*coarctation of the aorta &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*hypertension &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*ischemic heart disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*prolapsed mitral valve &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
== Diagnostic Procedures ==&lt;br /&gt;
&lt;br /&gt;
===Diagnostic Definition===&lt;br /&gt;
&lt;br /&gt;
[[File:Turner Syndrome X Chromosome Variations.jpg|thumb|right|Figure 7: Variations of the Second X Chromosome in Turner Syndrome]]&lt;br /&gt;
TS is diagnosed through both an evaluation of physical features and by analysis of the second sex chromosome. The two criteria must be met for classification of TS, an abnormality in the second sex chromosome must be found and the abnormality must be found to be expressed somehow in the individual's traits. Hence if physical characteristics are not present even when the cytogenetic criterion is met the patient is not diagnosed as having TS.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; In TS the second sex chromosome is either:&lt;br /&gt;
&lt;br /&gt;
*Completely absent (45,X)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Partially absent&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
*Forms an isochromosome (isoXq), possessing a long arm duplication (q) and being devoid of a short arm (p)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*In a ring formation (rX)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
*Is devoid of the homeobox gene, [[#Glossary26 | '''SHOX''']] (short stature homeobox), the deletion being prior to the junction between Xp22.2 and Xp22.3&amp;lt;ref name=&amp;quot;PMID21325865&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
Any of these variations of the second sex chromosome may occur with or without cell line [[#Glossary20 | '''mosaicism''']].&lt;br /&gt;
TS may be diagnosed prenatally or postnatally, using this genetic diagnostic definition coupled with an appropriate phenotypic evaluation of the individual, as outlined below.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Prenatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
The prenatal diagnostic tool for TS is karyotype screening and testing for phenotype abnormalities. If TS is diagnosed prenatally, karyotype screening and an evaluation of the individual's traits should be conducted again postnatally for confirmation of this diagnosis. TS is frequently diagnosed after karyotype screening during [[#Glossary5 | '''chorionic villous sampling''']] or [[#Glossary2 | '''amniocentesis''']].&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
The table below outlines various prenatal tests conducted and the indications that may be present in babies with TS. Although these techniques and the indications they reveal may highlight TS signs, they should not be used as sole diagnostic tools.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Technique'''&lt;br /&gt;
| '''Turner syndrome indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Ultrasound'''&lt;br /&gt;
|&lt;br /&gt;
*Increased nuchal translucency &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary6 | '''Cystic hygroma''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Coarctation of the aorta &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Left-sided cardiac defects &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary3 | '''Brachycephaly''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Renal anomalies &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary23 | '''Polyhydramnios''']] &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary22 | '''Oligohydramnios''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Growth retardation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;10599686&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Turner Syndrome Test Showing Nuchal Translucency.gif|none|thumb|400px|Figure 8: Ultrasound Test Showing Nuchal Translucency.]]&lt;br /&gt;
[[File:Turner Syndrome Test Showing Cystic Hygroma.gif|none|thumb|400px|Figure 9: Ultrasound Test Showing Cystic Hygroma.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Maternal serum screening'''&lt;br /&gt;
|&lt;br /&gt;
*Abnormal [[#Glossary1 | '''α-fetoprotein''']] levels &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary16 | '''inhibin A''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary13 | '''hCG''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal unconjugated [[#Glossary9 | '''estriol''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
|[[File: TurnerSyndromeMaternalSerumSampling.jpg|none|thumb|400px|Figure 10: Maternal Serum Sampling.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Postnatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
In postnatal diagnosis, karyotype investigation is undertaken for the individual. When a female presents with the following clinical findings, explained in table below, it is recommended that chromosomal analysis is undertaken, so that TS may be eliminated&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;:&lt;br /&gt;
{|sstyle= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Age'''&lt;br /&gt;
| '''Phenotypic manifestations/indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Baby/infant'''&lt;br /&gt;
|&lt;br /&gt;
*Oedema of the hands or feet &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Nuchal folds &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Cardiac abnormalities for example aortic dilation, bicuspid aortic valve and aortic coarctation &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Low hairline &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Low set ears &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Small mandible &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Gonadal dysgenesis &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
|&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Child'''&lt;br /&gt;
| &lt;br /&gt;
*Short stature with low growth velocity &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Turned in elbows &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Nail [[#Glossary15 | '''hypoplasia''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Hyperconvex uplifted nails &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Multiple pigmented benign birthmarks/moles &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Characteristic faecies &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Short fourth metacarpal &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*High arched palate &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Extensive and chronic inflammation/infection of the ear &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Hearing loss &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 4 year old child.jpg|left|thumb|150px|Figure 11: Four-year-old girl with Turner syndrome. Note somewhat broad chest, prominent ears and ptosis, but otherwise normal proportion. There is no pronounced neck webbing or edema.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Adolescent/Adult'''&lt;br /&gt;
|&lt;br /&gt;
*Absence of breast development by 13 yr of age &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Pubertal arrest &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Primary or secondary amenorrhoea&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Unexplained short stature &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Renal abnormalities &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Immune disorders &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 35 year old woman.jpg|none|thumb|150px|Figure 12: A Thirty-five-year-old woman with Turner syndrome. Note increased carrying angle of arms, broad flat chest and sexual infantilism, but the lack of pronounced neck webbing or peripheral edema.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Since an absence of the physical signs of puberty and/or growth failure are often seen as normal variations in the population, these possible indications/symptoms of TS may not be further investigated by many clinicians.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20361125&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; When karyotyping in order to exclude natural cell variation, a sufficient number of cells should be assessed. Whilst a sample of blood will often reveal TS, an evaluation of a second tissue sample like the skin is recommend.&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
[[#Glossary7 | '''DNA hybridisation''']] or fluorescent in situ hybridisation should be conducted using a Y centromeric or short arm probe to detect for any additional Y or X chromosomal material.&lt;br /&gt;
If there is any of the Y chromosome present, this may initiate gonadoblastoma development, another primary indicator of TS. Hence the individual should have both a vaginal [[#Glossary28 | '''ultrasonograph''']] and colour [[#Glossary8 | '''Doppler sonograph''']] of their gonads to detect whether any Y chromosome fragments are present. These tests should be repeated regularly to monitor the patient for any malignancy, if a gonadectomy is not undertaken.&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Treatment ==&lt;br /&gt;
&lt;br /&gt;
=== Cardiac Treatment ===&lt;br /&gt;
&lt;br /&gt;
When patients are confirmed with TS, it is necessary to have a full cardiac evaulation including a physical exam and a echocardiogram. If cardiac abnormalities are found, monitoring by a cardiologist is recommended including regular blood pressure checks&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  Coarctation of the aorta and hypoplastic left heart are quite often very serious issues are need to be dealt with surgically&amp;lt;ref name=&amp;quot;Hall&amp;quot;&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
If no abnormalities are found, blood pressure in TS patients is still routinely checked and a follow up cardiac evaulation is recommended for girls around the age of puberty (12-15)&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Speech ===&lt;br /&gt;
&lt;br /&gt;
Many TS patients have trouble with their speech. It is necessary for them to be refered to an Ear, Nose and Throat specialist and to a speech therapist to work on improve any speech problems&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Management of Puberty and Growth ===&lt;br /&gt;
The main treatment for growth and pubertal development is Hormone Replacement Therapy. Growth Hormone is administered to girls with abnormal growth, resulting in postive growth that is consistent with the expected height of the patient. It is administered as early as 2 years of age, but more often in the age group of 9-12 which is in line with the growth spurt that occurs during puberty&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Natural oestrogen and progesterone are administered to girls when they reach the age of puberty in early adolescence. The age at which this treatment commences varies between individuals, as does the dosage. The administration of oestrogen will begin the process of puberty in girls affected by TS and it is important that this begins around the same time as her peers&amp;lt;ref name=&amp;quot;Hall&amp;quot;/&amp;gt;. The use of oestrogen is often held off if the patient is also undergoing GH treatment so that maximum growth can be achieved, as oestrogen will induce the fusion of the epiphyses and limit longitudinal bone growth&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Around 10% of nonmosaic and 20% of mosaic women with TS will have spontaneous menses (periods) and may not need to undergo Hormone Replacement to initiate puberty. Around 2-5% of these women will have the potential to fall pregnant naturally&amp;lt;ref name=&amp;quot;Hall&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
=== Appearance ===&lt;br /&gt;
&lt;br /&gt;
Extreme neck webbing maybe worrying or uncomfortable to women with TS and in some cases plastic surgery is undertaken to fix this problem. Also if convex gorwth of toenails occurs, surgery is conducted so that the woman can wear normal shoes&amp;lt;ref name=&amp;quot;Hall&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Ongoing Adult Treatment ===&lt;br /&gt;
&lt;br /&gt;
Closely monitoring the health of TS adults is vital in the reduction of morbidity and mortality. An annual physical evalution should be undertaken which includes, blood pressure, heart auscultation, thyroid function, breast exam, and pap smear&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  &lt;br /&gt;
&lt;br /&gt;
Particular attention needs to be taken in the area of weight and obesity in TS women due to their high risk of developing diabetes, osteoporosis and hypertension. Patients are to be encouraged to have a healthy lifestyle including healthy eating and exercise&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Research ==&lt;br /&gt;
&lt;br /&gt;
===Current research===&lt;br /&gt;
&lt;br /&gt;
Since there is no preventative or cure, currently mainly research is being conducted into the areas of symptoms, possible treatments and risks involved with TS.&lt;br /&gt;
&lt;br /&gt;
'''Growth hormone therapy in Turner syndrome: its affect on height, weight and stature.'''&lt;br /&gt;
*'''Growth hormone effect on body composition in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21720878&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research findings from this paper conclude that people with TS have lower height, higher BMI and higher proportional sitting height and leg length than that of the normal population, no matter whether they undergo hormone replacement therapy or not.&lt;br /&gt;
*'''Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21619701&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study has concluded that all adults with TS had a similar quality of life regardless of whether they have a higher stature due to undergoing growth hormone replacement therapy or not. It was hypothesised that height differences did not affect quality of life as the individuals seemed to adapt to their own life challenges.&lt;br /&gt;
*'''Growth hormone treatment for Turner syndrome in Australia reveals that younger age and increased dose interact to improve response.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21375553&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research from this study found that growth hormone therapy works most optimally if given earlier in life and at a high dose in the first year of treatment.&lt;br /&gt;
*'''Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21398400&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: Another study which confers that the early introduction of growth hormone therapy is most efficacious. However the individual's glucose metabolism should be monitored as the hormones may affect glucose tolerance transiently.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Oestrogen hormone replacement therapy in Turner syndrome: the adequate dosage and its effect on uterine development, breast development, bone mineral density and sexual characteristics.'''&lt;br /&gt;
*'''Growth hormone plus childhood low-dose oestrogen in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21449786&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study indicates that undergoing both growth hormone and oestrogen therapy together may help increase the efficacy of each (increasing growth in height and pubertal development) more than when they act alone. &lt;br /&gt;
*'''Oestrogen requirements in girls with Turner syndrome; how low is enough for initiating puberty and uterine development?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21793702&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study assessed the minimal dosage of oestrogen that is required to bring about desired pubertal development in girls with TS.&lt;br /&gt;
*'''Puberty induction in Turner syndrome: results of oestrogen treatment on development of secondary sexual characteristics, uterine dimensions and serum hormone levels.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19200215&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: It was found that uterus of women with TS who had undergone oestrogen was underdeveloped, however the exact cause of this needs to be further researched.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Pregnancy and Turner syndrome: evaluation and treatment of risks involved with pregnancy for: the mothers of Turner syndrome babies, for individuals with Turner syndrome and for the babies of individuals with Turner syndrome.'''&lt;br /&gt;
*'''Familial occurrence of Turner syndrome: casual event or increased risk?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21648298&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research examined whether there is a higher probability of having a second child with Turner syndrome and concluded that there is evidence in the small cohort that they used of a greater probability. It is suggested that a larger study be conducted to look further into these findings.that &lt;br /&gt;
*'''Obstetric Outcomes in Women with Turner Karyotype.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21865365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: In this study it was found that women with TS had shorter pregnancies than that of a control group, but no other marked difference was observed between the groups.&lt;br /&gt;
*'''Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21496813&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This paper examined a number of pregnant women with TS, some who incidentally went through puberty even though they had no hormone replacement therapy and another group that had undertaken hormone replacement therapy. Though there were not many complications in either group, the groups were small in number and one mother did have cardiovascular difficulties later on in life. Hence a thorough examination of pregnant TS women should be conducted prior to conception.&lt;br /&gt;
*'''Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20923275&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This article assessed the prognosis of pregnant women with TS. They concluded that spontaneous pregnancy increases the risk of the baby having phenotypic and chromosomal abnormalities compared with women having assisted reproductive therapies.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Future research=== &lt;br /&gt;
&lt;br /&gt;
Future research needs to be conducted in the following areas: to follow up on the suggestions given in the conclusions of current research papers as outlined in the prior section and also into how the care system is functioning for TS individuals as outlined below.&lt;br /&gt;
&lt;br /&gt;
*'''Medical Care of Girls with Turner Syndrome: Where are we Lacking?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21454226&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research found that a large proportion (&amp;gt;50%) of people with TS are not given adequate information upon diagnosis or screenings for complications and symptoms. Therefore it is suggested in order to rectify this issue that more education should be given to physicians on the syndrome&lt;br /&gt;
*'''Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21752892&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; and '''Turner's syndrome requires multidisciplinary approach.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19514616&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: These article evaluate the need for a multidisciplinary approach to treatment of TS. Since the symptoms can be wide ranging and severe, it is difficult but necessary for all of them to be examined in each individual. Hence a greater care plan for individuals should be implemented upon diagnosis.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Related Pages ==&lt;br /&gt;
&lt;br /&gt;
*[[Cell Division - Meiosis]]&lt;br /&gt;
&lt;br /&gt;
*[[Menstrual Cycle]]&lt;br /&gt;
&lt;br /&gt;
*[[Oocyte Development]]&lt;br /&gt;
&lt;br /&gt;
*[[X Chromosome]]&lt;br /&gt;
&lt;br /&gt;
== Glossary ==&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary1&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Alpha-fetoprotein''' is a protein with an unknown function. It makes up, up to one third of the protein serum levels found in the second trimester of pregnancy and in neural tube defects, these alpha-fetoprotein levels are elevated. &amp;lt;ref name=&amp;quot;McPherson&amp;quot;&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary2&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Amniocentesis''' is a prenatal diagnostic tool. The procedure involves the sampling of amniotic fluid from the amniotic sac using a syringe, that is then tested for a number of abnormalities. &amp;lt;ref name=&amp;quot;Moore&amp;quot;&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary3&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Brachycephaly''' is a condition where the coronal suture of the skull fuses prematurely. Since the skull is unable to expand any further in the anterior-posterior directions due to this closure, it grows to an abnormal size in in the lateral dimension.&amp;lt;ref&amp;gt;Flint, P 2010, ''Flint: Cummings Otolaryngology: Head &amp;amp; Neck Surgery, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-323-05283-2..00186-5--s0045&amp;amp;isbn=978-0-323-05283-2&amp;amp;uniqId=282726024-5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary4&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Coarctation''' of the aorta is an abnormality where the aorta is constricted at one or various sections. This can be caused by genetic and/or environmental factors.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary5&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Chorionic villous sampling''' is a prenatal diagnostic tool which can be used from 7 weeks after fertilisation. It is used to test for a number of chromosomal abnormalities including X-linked and metabolic disorders.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary6&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Cystic hygroma''' is a prenatal abnormality where fluid builds up in the posterior portion of the neck. The body may or may not relieve itself naturally of this accumulation of fluid after birth. &amp;lt;ref&amp;gt;Gabbe, S 2007, ''Gabbe: Obstetrics: Normal and Problem Pregnancies, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-443-06930-7..50011-6--cesec51&amp;amp;isbn=978-0-443-06930-7&amp;amp;uniqId=282726024-10&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary7&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''DNA-DNA hybridisation''' is a technique used to compare the similarities and differences between two sets of genes.&amp;lt;ref&amp;gt;Long, S 2009, ''Bradley: Neurology in Clinical Practice, 5th ed.Long: Principles and Practice of Pediatric Infectious Diseases Revised Reprint, 3rd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X&amp;amp;isbn=978-0-7020-3468-8&amp;amp;uniqId=282726024-19#4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary8&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Doppler sonography''' uses the doppler effect to help image and measure blood flow pattern in the patient.&amp;lt;ref name=&amp;quot;Bradley&amp;quot;&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary9&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Estriol''' is a hormone that is produced in greater amounts during pregnancy especially in the second and third trimester. One of its main functions is to assist with blood flow in the placenta and uterus.&amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary10&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Gametes''' are reproductive (sex) cells (ie: eggs and sperm) that can unite to form a new cell called a zygote. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6&amp;amp;isbn=978-0-443-06811-9&amp;amp;uniqId=283289096-4#4-u1.0-B978-0-443-06811-9..10001-6--b0020&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary11&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Gonadoblastoma''' is an abnormal proliferation of gonadal cells, that may or may not be malignant.&amp;lt;ref name=&amp;quot;Wein&amp;quot;&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary12&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Haploid''' is the status of a cell having only a single set of unpaired chromosomes, or half the number of chromosomes contained in typical body cells. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary13&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''hCG''' is the abbreviation for human chorionic gonadotropin. It is a hormone that functions in the early stage of pregnancy to maintain the blood supply to the corpus luteum.&amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary14&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Homologous chromosomes''' are pairs of chromosomes, one each obtained from maternal and paternal gametes.  46 total chromosome complements are within an organism, 22 pairs of which are homologous chromosomes (called autosomes); the other 2 chromosomes are the sex chromosomes. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary15&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Hypoplasia''' is when an organ or tissue is not completely developed.&amp;lt;ref name=&amp;quot;Wein&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary16&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Inhibin A''' is a peptide produced by the ovaries and acts to restrain the production of follicle-stimulating hormone.&amp;lt;ref&amp;gt;Melmed, S 2011, ''Melmed: Williams Textbook of Endocrinology, 12th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0324-5..00045-6&amp;amp;isbn=978-1-4377-0324-5&amp;amp;uniqId=282726024-25 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary17&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Karyotype''' is an individual's set of chromosomes, both their number and appearance.&amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary18&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Meiosis''' is the specific process of cell division within sex cells which halves the number of chromosomes in the cells through via two cell divisions; this is specific to germ cells only, creating haploid gametes (sex cells) from diploid cells. &amp;lt;ref name=&amp;quot;Moore2&amp;quot;&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary19&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Monosomy''' is a condition wherein a specific chromosome is completely missing within one gamete that combines with a normal gamete to form a zygote; a chromosome has no homologue, or matching chromosome, to pair with. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary20&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Mosaicism''' is when a particular type or all cells of an individual do not have the same genetic makeup. This is caused by a mutation during embryonic cell division.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary21&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Nondisjunction''' is the failure of chromosome pairs to separate entirely during either stage of Meiosis. &amp;lt;ref name=&amp;quot;Moore2&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary22&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Oligohydramnios''' is a prenatal condition, where there is an insufficient amount of amniotic fluid.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary23&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Polyhydramnios''' is a prenatal condition, where there is an excessive amount of amniotic fluid.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary24&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Random assortment''' is the idea first proposed by Gregor Mendel which states that pairs of alleles independently separate during the formation of gametes. &amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;   &lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary25&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Recombination''' is the process which by genetic material is crossed over and switched between two segments of DNA which adds to the genetic diversity of the genome.&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary26&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''SHOX gene''' is the short stature homeobox gene, that when deficient frequently results in short stature.&amp;lt;ref name=&amp;quot;PMID21325865&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary27&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Sister chromatids''' are 2 identical copies of a chromatin that are connected at a position in their center called a centromere. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;     &lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary28&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Ultrasonography''' is a medical technique that employs ultrasound frequencies to visualise a patient's internal bodily structure.&amp;lt;ref name=&amp;quot;Bradley&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== References ==&lt;br /&gt;
&lt;br /&gt;
&amp;lt;references/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
----&lt;br /&gt;
{{2011Projects}}&lt;/div&gt;</summary>
		<author><name>Z3217043</name></author>
	</entry>
	<entry>
		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=User:Z3217043&amp;diff=77591</id>
		<title>User:Z3217043</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=User:Z3217043&amp;diff=77591"/>
		<updated>2011-10-12T22:13:06Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: /* Lab Assessment 10 */&lt;/p&gt;
&lt;hr /&gt;
&lt;div&gt;{{2011Student}}&lt;br /&gt;
&lt;br /&gt;
== LAB ATTENDANCE ==&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:20, 6 October 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:21, 29 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 10:59, 15 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:09, 1 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:09, 25 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:07, 18 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:40, 11 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:11, 4 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|Z3217043]] 12:55, 28 July 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 10 ==&lt;br /&gt;
&lt;br /&gt;
1.Besides fetal alcohol syndrome, identify another environmental teratogen that can lead to hearing loss. &lt;br /&gt;
&lt;br /&gt;
Maternal Diabetes&lt;br /&gt;
&lt;br /&gt;
2.Identify 3 factors that contribute to poor neonatal drainage of the middle ear. &lt;br /&gt;
&lt;br /&gt;
Opened by only the tensor palatini muscle, narrow and almost horizontal. &lt;br /&gt;
&lt;br /&gt;
3.Identify 1 genetic abnormality that affects hearing development and link to the OMIM record. (Your individual abnormality should be different from all other students)&lt;br /&gt;
&lt;br /&gt;
FIBROBLAST GROWTH FACTOR 3; FGF3 [http://www.omim.org/entry/164950]&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 8 ==&lt;br /&gt;
&lt;br /&gt;
Group 2 Peer Review&lt;br /&gt;
&lt;br /&gt;
:*The first three sentences about congenital disease is misplaced. This should be in your glossary, not in your very first sentences. &lt;br /&gt;
&lt;br /&gt;
:*The common symptoms could be left out of the introduction and discussed in the appropriate section. &lt;br /&gt;
&lt;br /&gt;
:*Written like an essay rather than a webpage. Language such as “for example” not necessary. &lt;br /&gt;
&lt;br /&gt;
:*Clinical Diagnosis was well structured and good use of pictures. &lt;br /&gt;
&lt;br /&gt;
:*Clinical Manifestations could be simplified slightly in the table. &lt;br /&gt;
&lt;br /&gt;
:*Some references need to be adjusted rather than just a web address.&lt;br /&gt;
&lt;br /&gt;
Group 3 Peer Review&lt;br /&gt;
&lt;br /&gt;
:*The first paragraph is not necessary, talk about Klinefelter’s specifically not about sex chromosomes. This can be discussed further in the webpage. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs and other formatting looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*Great historic information but could be integrated into the timeline instead of having large paragraphs and a timeline. &lt;br /&gt;
&lt;br /&gt;
:*Really liked “other similar disorders”. Great idea. &lt;br /&gt;
&lt;br /&gt;
:*Some references need to be fixed so there is not double ups in the reference list.&lt;br /&gt;
&lt;br /&gt;
Group 4 Peer Review&lt;br /&gt;
&lt;br /&gt;
:* History could be adapted into the timeline. Unnecessary for both.&lt;br /&gt;
&lt;br /&gt;
:*The table of medications in treatments is slightly hard to follow. Perhaps some use of bolding or different font sizes would make it easier to read. &lt;br /&gt;
&lt;br /&gt;
:* Great use of images. Make sure they are formatted correctly. In the Tetrabenezine section the image is large and cuts off one sentence which is then placed under the image which makes it look like a caption.&lt;br /&gt;
&lt;br /&gt;
:* Some references are missing entirely. Make sure the referencing is uniform. Review list and fix up double references. &lt;br /&gt;
&lt;br /&gt;
Group 5 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*The lone sentence at the beginning of the history is unnecessary. &lt;br /&gt;
&lt;br /&gt;
:*Essay language such as “for example” is a bit out of place on a wiki page. Tailor language to a web page. &lt;br /&gt;
&lt;br /&gt;
:*In the epidemiology section some statements are not referenced. Where are these ‘examples’ coming from? &lt;br /&gt;
&lt;br /&gt;
:*Research section would benefit from the bolding of paper headings or authors names. &lt;br /&gt;
&lt;br /&gt;
:*Glossary could be expanded, very minimal. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. &lt;br /&gt;
&lt;br /&gt;
Group 6 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*Introduction does not flow very well. Sentences are very choppy. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit from a timeline rather than paragraphs as it is a bit hard to follow. &lt;br /&gt;
&lt;br /&gt;
:*In the epidemiology and symptoms sections need some more content. Seems very minimal. Also images? &lt;br /&gt;
&lt;br /&gt;
:*Diagnostic section needs the rest of the information added to its table. “Insert text here”. Also use of bolding or different font sizes would benefit this table. &lt;br /&gt;
&lt;br /&gt;
:*Glossary could be expanded, very minimal. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. &lt;br /&gt;
&lt;br /&gt;
Group 7 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit by placing the information into the timeline rather than paragraphs as it is a bit hard to follow. &lt;br /&gt;
&lt;br /&gt;
:*In the epidemiology, aetiology and complications sections need some more content. Seems very minimal. The table in aetiology could be explained much better. &lt;br /&gt;
&lt;br /&gt;
:*Seems to be too many sections with only a small amount of content. These could be merged as some headings fit under a broader heading. This would make the page seem more content filled and give it a better flow. &lt;br /&gt;
&lt;br /&gt;
:*Glossary could be expanded. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. Double ups need to be fixed. &lt;br /&gt;
&lt;br /&gt;
Group 8 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit by placing the information into the timeline rather than paragraphs as it is a bit hard to follow. Could also be expanded. &lt;br /&gt;
&lt;br /&gt;
:*In the epidemiology section the subheadings do not present the information in the best way possible. It makes it look like there is a lack of research into this area. Perhaps combining into paragraphs, or adding more information to each subheading. &lt;br /&gt;
&lt;br /&gt;
:*The pathogenesis section needs some additional information. &lt;br /&gt;
&lt;br /&gt;
:*Further explanation of terms in the symptoms section is needed as the web page is aimed at those that may not have a clinical knowledge. &lt;br /&gt;
&lt;br /&gt;
:*Research could be summarised and papers talked about rather than just listing papers of current research. &lt;br /&gt;
&lt;br /&gt;
:*Glossary is extensive but would be more appropriate following the information on the page rather than after the references as it gets forgotten about. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. Double ups need to be fixed. &lt;br /&gt;
&lt;br /&gt;
Group 9 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit by placing the information into the timeline rather than paragraphs as it is a bit hard to follow. &lt;br /&gt;
&lt;br /&gt;
:*In the diagnosis section each of the hallmark symptoms could be further explained rather than just listed. &lt;br /&gt;
&lt;br /&gt;
:*The management steps could be explained rather than just listed. Not enough information in this section. Treatment is very choppy, should be written in paragraphs not sentences. &lt;br /&gt;
&lt;br /&gt;
:*Research could be summarised and papers talked about rather than just listing papers of current research or individuals that are researchers. &lt;br /&gt;
&lt;br /&gt;
:*Glossary needs to be finished. If you didn’t have time, should have gotten rid of terms. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. Several different styles of referencing used, just have one. &lt;br /&gt;
&lt;br /&gt;
Group 10 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit by placing the information into a timeline rather than paragraphs as it is a bit hard to follow. &lt;br /&gt;
&lt;br /&gt;
:*Epidemiology section could be expanded and written in more flowing way rather than long sentences. &lt;br /&gt;
&lt;br /&gt;
:*Needs more images, lots of large blocks of text. And images need to be formatted into the text as formatting currently looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*Further Research could be added, for example papers or groups that are researching as currently it is just being referred to. &lt;br /&gt;
&lt;br /&gt;
:*Glossary could be expanded. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. Double ups need to be fixed. Also perhaps research from MORE sources is necessary as there is only a few when you cut out the double references. &lt;br /&gt;
&lt;br /&gt;
Group 11 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement&lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit by placing the information into a timeline rather than paragraphs as it is a bit hard to follow. Having both a history section and a timeline section makes no sense. &lt;br /&gt;
&lt;br /&gt;
:*Syndromes and anomalies has sections where “text will be added soon”. Definitely needs more information.Symptoms need to be explained instead of just listed. &lt;br /&gt;
&lt;br /&gt;
:*Needs more images, lots of large blocks of text. And images need to be formatted into the text as formatting currently looks awkward. Text needs to be grammatically corrected and formatted into paragraphs. &lt;br /&gt;
&lt;br /&gt;
:*Further Research could be added, for example papers or groups that are researching as currently it is just being referred to. Listing the name of a paper isn’t discussing it. &lt;br /&gt;
&lt;br /&gt;
:*Glossary could be expanded. &lt;br /&gt;
&lt;br /&gt;
:*Where are the references? Where did you get this information from? Large blocks of text without references. References need to be fixed. There are many that are just a web address. Full citation is needed. Double ups need to be fixed. Links to pubmed could be good. Also perhaps research from MORE sources is necessary as there is only a few when you cut out the double references. &lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 7 ==&lt;br /&gt;
&lt;br /&gt;
1. Are satellite cells (a) necessary for muscle hypertrophy and (b) generally involved in hypertrophy? &lt;br /&gt;
&lt;br /&gt;
a)Satellite cells are not necessary for hypertrophy.&lt;br /&gt;
&lt;br /&gt;
b)They are generally involved in hypertrophy. &lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
2. Why does chronic low frequency stimulation cause a fast to slow fibre type shift? &lt;br /&gt;
&lt;br /&gt;
It causes the fast to slow fibre shift, as the fast fibres become adapt and become more like slow fibres in order to work more efficently with the low frequency stimulation.&lt;br /&gt;
&lt;br /&gt;
Peer Review&lt;br /&gt;
&lt;br /&gt;
*The linking of words to the glossary is good.&lt;br /&gt;
*Some pictures are formatted in a way that the page doesn't flow very well. &lt;br /&gt;
*Formatting is ok. Some areas where there is large empty spaces.&lt;br /&gt;
*Good amount of pictures and text.&lt;br /&gt;
*Informative content.&lt;br /&gt;
--[[User:Z3217043|z3217043]] 10:55, 22 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 6 ==&lt;br /&gt;
&lt;br /&gt;
1. The palatal shelves fuse in week 9.&lt;br /&gt;
&lt;br /&gt;
2. The chicken model was used.&lt;br /&gt;
&lt;br /&gt;
3. The abnormality is Tetralogy of Fallot.&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 5 ==&lt;br /&gt;
&lt;br /&gt;
The most common side is the left side. This is due to the mutation in the pulmonary development gene which causes diaphragmatic hernia. It causes hernia as the left pleural cavity is sealed off at a later stage of development. &lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 4 ==&lt;br /&gt;
&lt;br /&gt;
1. It is continuous with the bladder.&lt;br /&gt;
&lt;br /&gt;
2. Ductus venosus in the liver, Oval foramen between the atria and Ductus arteriosus from the left pulmonary artery to the dorsal aorta (6th arterial arch from the left). &lt;br /&gt;
&lt;br /&gt;
3. I will be doing the history and treatment of thalassemia.&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 10:31, 25 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 3 ==&lt;br /&gt;
&lt;br /&gt;
1. Folic Acid and Iodine&lt;br /&gt;
&lt;br /&gt;
2. [[File:Thalassemia_pic.jpg|200px|thumb|left|Miotic Cell Defects]] --[[User:Z3217043|z3217043]] 11:06, 18 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 2 ==&lt;br /&gt;
&lt;br /&gt;
1. Identify the ZP protein that spermatozoa binds and how is this changed (altered) after fertilisation. &lt;br /&gt;
&lt;br /&gt;
ZP3, it initiates the acrosome reaction, where acrosomal cortical granules are exocytosed from the egg. The granules modify the zona pellucida by making it unable to bind with further sperm and also hardened it.&lt;br /&gt;
&lt;br /&gt;
2. Review articles&lt;br /&gt;
&lt;br /&gt;
[http://www.ncbi.nlm.nih.gov.wwwproxy0.library.unsw.edu.au/pubmed/21806986 A rapid detection for α-thalassemia by PCR combined with dissociation curve analysis]&lt;br /&gt;
&lt;br /&gt;
[http://www.ncbi.nlm.nih.gov.wwwproxy0.library.unsw.edu.au/pubmed/21239835 Hematopoietic stem cell transplantation in thalassemia]&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 20:31, 10 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 1 ==&lt;br /&gt;
&lt;br /&gt;
1. Robert G Edwards&lt;br /&gt;
&lt;br /&gt;
2. B Klln, O Finnstrm, A Lindam, E Nilsson, K-G Nygren, P Otterblad Olausson Trends in delivery and neonatal outcome after in vitro fertilization in Sweden: data for 25 years. Hum. Reprod.: 2010, 25(4);1026-34 PMID:20139431 &lt;br /&gt;
&lt;br /&gt;
Paper discussing the decrease in unwanted outcomes in IVF in Sweden.&lt;br /&gt;
&lt;br /&gt;
3. Congenital Dislocated Hip and Cleft Palate&lt;br /&gt;
&lt;br /&gt;
--z3217043 20:58, 3 August 2011 (EST)&lt;/div&gt;</summary>
		<author><name>Z3217043</name></author>
	</entry>
	<entry>
		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=User:Z3217043&amp;diff=77590</id>
		<title>User:Z3217043</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=User:Z3217043&amp;diff=77590"/>
		<updated>2011-10-12T22:12:24Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: &lt;/p&gt;
&lt;hr /&gt;
&lt;div&gt;{{2011Student}}&lt;br /&gt;
&lt;br /&gt;
== LAB ATTENDANCE ==&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:20, 6 October 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:21, 29 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 10:59, 15 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:09, 1 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:09, 25 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:07, 18 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:40, 11 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:11, 4 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|Z3217043]] 12:55, 28 July 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 10 ==&lt;br /&gt;
&lt;br /&gt;
1.Besides fetal alcohol syndrome, identify another environmental teratogen that can lead to hearing loss. &lt;br /&gt;
&lt;br /&gt;
Maternal Diabetes&lt;br /&gt;
&lt;br /&gt;
2.Identify 3 factors that contribute to poor neonatal drainage of the middle ear. &lt;br /&gt;
&lt;br /&gt;
Opened by only the tensor palatini muscle, narrow and almost horizontal. &lt;br /&gt;
&lt;br /&gt;
3.Identify 1 genetic abnormality that affects hearing development and link to the OMIM record. (Your individual abnormality should be different from all other students)&lt;br /&gt;
&lt;br /&gt;
FIBROBLAST GROWTH FACTOR 3; FGF3 [http://www.omim.org/entry/164950]&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 8 ==&lt;br /&gt;
&lt;br /&gt;
Group 2 Peer Review&lt;br /&gt;
&lt;br /&gt;
:*The first three sentences about congenital disease is misplaced. This should be in your glossary, not in your very first sentences. &lt;br /&gt;
&lt;br /&gt;
:*The common symptoms could be left out of the introduction and discussed in the appropriate section. &lt;br /&gt;
&lt;br /&gt;
:*Written like an essay rather than a webpage. Language such as “for example” not necessary. &lt;br /&gt;
&lt;br /&gt;
:*Clinical Diagnosis was well structured and good use of pictures. &lt;br /&gt;
&lt;br /&gt;
:*Clinical Manifestations could be simplified slightly in the table. &lt;br /&gt;
&lt;br /&gt;
:*Some references need to be adjusted rather than just a web address.&lt;br /&gt;
&lt;br /&gt;
Group 3 Peer Review&lt;br /&gt;
&lt;br /&gt;
:*The first paragraph is not necessary, talk about Klinefelter’s specifically not about sex chromosomes. This can be discussed further in the webpage. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs and other formatting looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*Great historic information but could be integrated into the timeline instead of having large paragraphs and a timeline. &lt;br /&gt;
&lt;br /&gt;
:*Really liked “other similar disorders”. Great idea. &lt;br /&gt;
&lt;br /&gt;
:*Some references need to be fixed so there is not double ups in the reference list.&lt;br /&gt;
&lt;br /&gt;
Group 4 Peer Review&lt;br /&gt;
&lt;br /&gt;
:* History could be adapted into the timeline. Unnecessary for both.&lt;br /&gt;
&lt;br /&gt;
:*The table of medications in treatments is slightly hard to follow. Perhaps some use of bolding or different font sizes would make it easier to read. &lt;br /&gt;
&lt;br /&gt;
:* Great use of images. Make sure they are formatted correctly. In the Tetrabenezine section the image is large and cuts off one sentence which is then placed under the image which makes it look like a caption.&lt;br /&gt;
&lt;br /&gt;
:* Some references are missing entirely. Make sure the referencing is uniform. Review list and fix up double references. &lt;br /&gt;
&lt;br /&gt;
Group 5 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*The lone sentence at the beginning of the history is unnecessary. &lt;br /&gt;
&lt;br /&gt;
:*Essay language such as “for example” is a bit out of place on a wiki page. Tailor language to a web page. &lt;br /&gt;
&lt;br /&gt;
:*In the epidemiology section some statements are not referenced. Where are these ‘examples’ coming from? &lt;br /&gt;
&lt;br /&gt;
:*Research section would benefit from the bolding of paper headings or authors names. &lt;br /&gt;
&lt;br /&gt;
:*Glossary could be expanded, very minimal. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. &lt;br /&gt;
&lt;br /&gt;
Group 6 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*Introduction does not flow very well. Sentences are very choppy. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit from a timeline rather than paragraphs as it is a bit hard to follow. &lt;br /&gt;
&lt;br /&gt;
:*In the epidemiology and symptoms sections need some more content. Seems very minimal. Also images? &lt;br /&gt;
&lt;br /&gt;
:*Diagnostic section needs the rest of the information added to its table. “Insert text here”. Also use of bolding or different font sizes would benefit this table. &lt;br /&gt;
&lt;br /&gt;
:*Glossary could be expanded, very minimal. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. &lt;br /&gt;
&lt;br /&gt;
Group 7 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit by placing the information into the timeline rather than paragraphs as it is a bit hard to follow. &lt;br /&gt;
&lt;br /&gt;
:*In the epidemiology, aetiology and complications sections need some more content. Seems very minimal. The table in aetiology could be explained much better. &lt;br /&gt;
&lt;br /&gt;
:*Seems to be too many sections with only a small amount of content. These could be merged as some headings fit under a broader heading. This would make the page seem more content filled and give it a better flow. &lt;br /&gt;
&lt;br /&gt;
:*Glossary could be expanded. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. Double ups need to be fixed. &lt;br /&gt;
&lt;br /&gt;
Group 8 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit by placing the information into the timeline rather than paragraphs as it is a bit hard to follow. Could also be expanded. &lt;br /&gt;
&lt;br /&gt;
:*In the epidemiology section the subheadings do not present the information in the best way possible. It makes it look like there is a lack of research into this area. Perhaps combining into paragraphs, or adding more information to each subheading. &lt;br /&gt;
&lt;br /&gt;
:*The pathogenesis section needs some additional information. &lt;br /&gt;
&lt;br /&gt;
:*Further explanation of terms in the symptoms section is needed as the web page is aimed at those that may not have a clinical knowledge. &lt;br /&gt;
&lt;br /&gt;
:*Research could be summarised and papers talked about rather than just listing papers of current research. &lt;br /&gt;
&lt;br /&gt;
:*Glossary is extensive but would be more appropriate following the information on the page rather than after the references as it gets forgotten about. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. Double ups need to be fixed. &lt;br /&gt;
&lt;br /&gt;
Group 9 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit by placing the information into the timeline rather than paragraphs as it is a bit hard to follow. &lt;br /&gt;
&lt;br /&gt;
:*In the diagnosis section each of the hallmark symptoms could be further explained rather than just listed. &lt;br /&gt;
&lt;br /&gt;
:*The management steps could be explained rather than just listed. Not enough information in this section. Treatment is very choppy, should be written in paragraphs not sentences. &lt;br /&gt;
&lt;br /&gt;
:*Research could be summarised and papers talked about rather than just listing papers of current research or individuals that are researchers. &lt;br /&gt;
&lt;br /&gt;
:*Glossary needs to be finished. If you didn’t have time, should have gotten rid of terms. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. Several different styles of referencing used, just have one. &lt;br /&gt;
&lt;br /&gt;
Group 10 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit by placing the information into a timeline rather than paragraphs as it is a bit hard to follow. &lt;br /&gt;
&lt;br /&gt;
:*Epidemiology section could be expanded and written in more flowing way rather than long sentences. &lt;br /&gt;
&lt;br /&gt;
:*Needs more images, lots of large blocks of text. And images need to be formatted into the text as formatting currently looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*Further Research could be added, for example papers or groups that are researching as currently it is just being referred to. &lt;br /&gt;
&lt;br /&gt;
:*Glossary could be expanded. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. Double ups need to be fixed. Also perhaps research from MORE sources is necessary as there is only a few when you cut out the double references. &lt;br /&gt;
&lt;br /&gt;
Group 11 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement&lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit by placing the information into a timeline rather than paragraphs as it is a bit hard to follow. Having both a history section and a timeline section makes no sense. &lt;br /&gt;
&lt;br /&gt;
:*Syndromes and anomalies has sections where “text will be added soon”. Definitely needs more information.Symptoms need to be explained instead of just listed. &lt;br /&gt;
&lt;br /&gt;
:*Needs more images, lots of large blocks of text. And images need to be formatted into the text as formatting currently looks awkward. Text needs to be grammatically corrected and formatted into paragraphs. &lt;br /&gt;
&lt;br /&gt;
:*Further Research could be added, for example papers or groups that are researching as currently it is just being referred to. Listing the name of a paper isn’t discussing it. &lt;br /&gt;
&lt;br /&gt;
:*Glossary could be expanded. &lt;br /&gt;
&lt;br /&gt;
:*Where are the references? Where did you get this information from? Large blocks of text without references. References need to be fixed. There are many that are just a web address. Full citation is needed. Double ups need to be fixed. Links to pubmed could be good. Also perhaps research from MORE sources is necessary as there is only a few when you cut out the double references. &lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 7 ==&lt;br /&gt;
&lt;br /&gt;
1. Are satellite cells (a) necessary for muscle hypertrophy and (b) generally involved in hypertrophy? &lt;br /&gt;
&lt;br /&gt;
a)Satellite cells are not necessary for hypertrophy.&lt;br /&gt;
&lt;br /&gt;
b)They are generally involved in hypertrophy. &lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
2. Why does chronic low frequency stimulation cause a fast to slow fibre type shift? &lt;br /&gt;
&lt;br /&gt;
It causes the fast to slow fibre shift, as the fast fibres become adapt and become more like slow fibres in order to work more efficently with the low frequency stimulation.&lt;br /&gt;
&lt;br /&gt;
Peer Review&lt;br /&gt;
&lt;br /&gt;
*The linking of words to the glossary is good.&lt;br /&gt;
*Some pictures are formatted in a way that the page doesn't flow very well. &lt;br /&gt;
*Formatting is ok. Some areas where there is large empty spaces.&lt;br /&gt;
*Good amount of pictures and text.&lt;br /&gt;
*Informative content.&lt;br /&gt;
--[[User:Z3217043|z3217043]] 10:55, 22 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 6 ==&lt;br /&gt;
&lt;br /&gt;
1. The palatal shelves fuse in week 9.&lt;br /&gt;
&lt;br /&gt;
2. The chicken model was used.&lt;br /&gt;
&lt;br /&gt;
3. The abnormality is Tetralogy of Fallot.&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 5 ==&lt;br /&gt;
&lt;br /&gt;
The most common side is the left side. This is due to the mutation in the pulmonary development gene which causes diaphragmatic hernia. It causes hernia as the left pleural cavity is sealed off at a later stage of development. &lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 4 ==&lt;br /&gt;
&lt;br /&gt;
1. It is continuous with the bladder.&lt;br /&gt;
&lt;br /&gt;
2. Ductus venosus in the liver, Oval foramen between the atria and Ductus arteriosus from the left pulmonary artery to the dorsal aorta (6th arterial arch from the left). &lt;br /&gt;
&lt;br /&gt;
3. I will be doing the history and treatment of thalassemia.&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 10:31, 25 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 3 ==&lt;br /&gt;
&lt;br /&gt;
1. Folic Acid and Iodine&lt;br /&gt;
&lt;br /&gt;
2. [[File:Thalassemia_pic.jpg|200px|thumb|left|Miotic Cell Defects]] --[[User:Z3217043|z3217043]] 11:06, 18 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 2 ==&lt;br /&gt;
&lt;br /&gt;
1. Identify the ZP protein that spermatozoa binds and how is this changed (altered) after fertilisation. &lt;br /&gt;
&lt;br /&gt;
ZP3, it initiates the acrosome reaction, where acrosomal cortical granules are exocytosed from the egg. The granules modify the zona pellucida by making it unable to bind with further sperm and also hardened it.&lt;br /&gt;
&lt;br /&gt;
2. Review articles&lt;br /&gt;
&lt;br /&gt;
[http://www.ncbi.nlm.nih.gov.wwwproxy0.library.unsw.edu.au/pubmed/21806986 A rapid detection for α-thalassemia by PCR combined with dissociation curve analysis]&lt;br /&gt;
&lt;br /&gt;
[http://www.ncbi.nlm.nih.gov.wwwproxy0.library.unsw.edu.au/pubmed/21239835 Hematopoietic stem cell transplantation in thalassemia]&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 20:31, 10 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 1 ==&lt;br /&gt;
&lt;br /&gt;
1. Robert G Edwards&lt;br /&gt;
&lt;br /&gt;
2. B Klln, O Finnstrm, A Lindam, E Nilsson, K-G Nygren, P Otterblad Olausson Trends in delivery and neonatal outcome after in vitro fertilization in Sweden: data for 25 years. Hum. Reprod.: 2010, 25(4);1026-34 PMID:20139431 &lt;br /&gt;
&lt;br /&gt;
Paper discussing the decrease in unwanted outcomes in IVF in Sweden.&lt;br /&gt;
&lt;br /&gt;
3. Congenital Dislocated Hip and Cleft Palate&lt;br /&gt;
&lt;br /&gt;
--z3217043 20:58, 3 August 2011 (EST)&lt;/div&gt;</summary>
		<author><name>Z3217043</name></author>
	</entry>
	<entry>
		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=User:Z3217043&amp;diff=75518</id>
		<title>User:Z3217043</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=User:Z3217043&amp;diff=75518"/>
		<updated>2011-10-06T00:20:33Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: &lt;/p&gt;
&lt;hr /&gt;
&lt;div&gt;{{2011Student}}&lt;br /&gt;
&lt;br /&gt;
== LAB ATTENDANCE ==&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:20, 6 October 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:21, 29 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 10:59, 15 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:09, 1 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:09, 25 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:07, 18 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:40, 11 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:11, 4 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|Z3217043]] 12:55, 28 July 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 8 ==&lt;br /&gt;
&lt;br /&gt;
Group 2 Peer Review&lt;br /&gt;
&lt;br /&gt;
:*The first three sentences about congenital disease is misplaced. This should be in your glossary, not in your very first sentences. &lt;br /&gt;
&lt;br /&gt;
:*The common symptoms could be left out of the introduction and discussed in the appropriate section. &lt;br /&gt;
&lt;br /&gt;
:*Written like an essay rather than a webpage. Language such as “for example” not necessary. &lt;br /&gt;
&lt;br /&gt;
:*Clinical Diagnosis was well structured and good use of pictures. &lt;br /&gt;
&lt;br /&gt;
:*Clinical Manifestations could be simplified slightly in the table. &lt;br /&gt;
&lt;br /&gt;
:*Some references need to be adjusted rather than just a web address.&lt;br /&gt;
&lt;br /&gt;
Group 3 Peer Review&lt;br /&gt;
&lt;br /&gt;
:*The first paragraph is not necessary, talk about Klinefelter’s specifically not about sex chromosomes. This can be discussed further in the webpage. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs and other formatting looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*Great historic information but could be integrated into the timeline instead of having large paragraphs and a timeline. &lt;br /&gt;
&lt;br /&gt;
:*Really liked “other similar disorders”. Great idea. &lt;br /&gt;
&lt;br /&gt;
:*Some references need to be fixed so there is not double ups in the reference list.&lt;br /&gt;
&lt;br /&gt;
Group 4 Peer Review&lt;br /&gt;
&lt;br /&gt;
:* History could be adapted into the timeline. Unnecessary for both.&lt;br /&gt;
&lt;br /&gt;
:*The table of medications in treatments is slightly hard to follow. Perhaps some use of bolding or different font sizes would make it easier to read. &lt;br /&gt;
&lt;br /&gt;
:* Great use of images. Make sure they are formatted correctly. In the Tetrabenezine section the image is large and cuts off one sentence which is then placed under the image which makes it look like a caption.&lt;br /&gt;
&lt;br /&gt;
:* Some references are missing entirely. Make sure the referencing is uniform. Review list and fix up double references. &lt;br /&gt;
&lt;br /&gt;
Group 5 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*The lone sentence at the beginning of the history is unnecessary. &lt;br /&gt;
&lt;br /&gt;
:*Essay language such as “for example” is a bit out of place on a wiki page. Tailor language to a web page. &lt;br /&gt;
&lt;br /&gt;
:*In the epidemiology section some statements are not referenced. Where are these ‘examples’ coming from? &lt;br /&gt;
&lt;br /&gt;
:*Research section would benefit from the bolding of paper headings or authors names. &lt;br /&gt;
&lt;br /&gt;
:*Glossary could be expanded, very minimal. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. &lt;br /&gt;
&lt;br /&gt;
Group 6 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*Introduction does not flow very well. Sentences are very choppy. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit from a timeline rather than paragraphs as it is a bit hard to follow. &lt;br /&gt;
&lt;br /&gt;
:*In the epidemiology and symptoms sections need some more content. Seems very minimal. Also images? &lt;br /&gt;
&lt;br /&gt;
:*Diagnostic section needs the rest of the information added to its table. “Insert text here”. Also use of bolding or different font sizes would benefit this table. &lt;br /&gt;
&lt;br /&gt;
:*Glossary could be expanded, very minimal. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. &lt;br /&gt;
&lt;br /&gt;
Group 7 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit by placing the information into the timeline rather than paragraphs as it is a bit hard to follow. &lt;br /&gt;
&lt;br /&gt;
:*In the epidemiology, aetiology and complications sections need some more content. Seems very minimal. The table in aetiology could be explained much better. &lt;br /&gt;
&lt;br /&gt;
:*Seems to be too many sections with only a small amount of content. These could be merged as some headings fit under a broader heading. This would make the page seem more content filled and give it a better flow. &lt;br /&gt;
&lt;br /&gt;
:*Glossary could be expanded. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. Double ups need to be fixed. &lt;br /&gt;
&lt;br /&gt;
Group 8 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit by placing the information into the timeline rather than paragraphs as it is a bit hard to follow. Could also be expanded. &lt;br /&gt;
&lt;br /&gt;
:*In the epidemiology section the subheadings do not present the information in the best way possible. It makes it look like there is a lack of research into this area. Perhaps combining into paragraphs, or adding more information to each subheading. &lt;br /&gt;
&lt;br /&gt;
:*The pathogenesis section needs some additional information. &lt;br /&gt;
&lt;br /&gt;
:*Further explanation of terms in the symptoms section is needed as the web page is aimed at those that may not have a clinical knowledge. &lt;br /&gt;
&lt;br /&gt;
:*Research could be summarised and papers talked about rather than just listing papers of current research. &lt;br /&gt;
&lt;br /&gt;
:*Glossary is extensive but would be more appropriate following the information on the page rather than after the references as it gets forgotten about. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. Double ups need to be fixed. &lt;br /&gt;
&lt;br /&gt;
Group 9 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit by placing the information into the timeline rather than paragraphs as it is a bit hard to follow. &lt;br /&gt;
&lt;br /&gt;
:*In the diagnosis section each of the hallmark symptoms could be further explained rather than just listed. &lt;br /&gt;
&lt;br /&gt;
:*The management steps could be explained rather than just listed. Not enough information in this section. Treatment is very choppy, should be written in paragraphs not sentences. &lt;br /&gt;
&lt;br /&gt;
:*Research could be summarised and papers talked about rather than just listing papers of current research or individuals that are researchers. &lt;br /&gt;
&lt;br /&gt;
:*Glossary needs to be finished. If you didn’t have time, should have gotten rid of terms. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. Several different styles of referencing used, just have one. &lt;br /&gt;
&lt;br /&gt;
Group 10 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit by placing the information into a timeline rather than paragraphs as it is a bit hard to follow. &lt;br /&gt;
&lt;br /&gt;
:*Epidemiology section could be expanded and written in more flowing way rather than long sentences. &lt;br /&gt;
&lt;br /&gt;
:*Needs more images, lots of large blocks of text. And images need to be formatted into the text as formatting currently looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*Further Research could be added, for example papers or groups that are researching as currently it is just being referred to. &lt;br /&gt;
&lt;br /&gt;
:*Glossary could be expanded. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. Double ups need to be fixed. Also perhaps research from MORE sources is necessary as there is only a few when you cut out the double references. &lt;br /&gt;
&lt;br /&gt;
Group 11 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement&lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit by placing the information into a timeline rather than paragraphs as it is a bit hard to follow. Having both a history section and a timeline section makes no sense. &lt;br /&gt;
&lt;br /&gt;
:*Syndromes and anomalies has sections where “text will be added soon”. Definitely needs more information.Symptoms need to be explained instead of just listed. &lt;br /&gt;
&lt;br /&gt;
:*Needs more images, lots of large blocks of text. And images need to be formatted into the text as formatting currently looks awkward. Text needs to be grammatically corrected and formatted into paragraphs. &lt;br /&gt;
&lt;br /&gt;
:*Further Research could be added, for example papers or groups that are researching as currently it is just being referred to. Listing the name of a paper isn’t discussing it. &lt;br /&gt;
&lt;br /&gt;
:*Glossary could be expanded. &lt;br /&gt;
&lt;br /&gt;
:*Where are the references? Where did you get this information from? Large blocks of text without references. References need to be fixed. There are many that are just a web address. Full citation is needed. Double ups need to be fixed. Links to pubmed could be good. Also perhaps research from MORE sources is necessary as there is only a few when you cut out the double references. &lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 7 ==&lt;br /&gt;
&lt;br /&gt;
1. Are satellite cells (a) necessary for muscle hypertrophy and (b) generally involved in hypertrophy? &lt;br /&gt;
&lt;br /&gt;
a)Satellite cells are not necessary for hypertrophy.&lt;br /&gt;
&lt;br /&gt;
b)They are generally involved in hypertrophy. &lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
2. Why does chronic low frequency stimulation cause a fast to slow fibre type shift? &lt;br /&gt;
&lt;br /&gt;
It causes the fast to slow fibre shift, as the fast fibres become adapt and become more like slow fibres in order to work more efficently with the low frequency stimulation.&lt;br /&gt;
&lt;br /&gt;
Peer Review&lt;br /&gt;
&lt;br /&gt;
*The linking of words to the glossary is good.&lt;br /&gt;
*Some pictures are formatted in a way that the page doesn't flow very well. &lt;br /&gt;
*Formatting is ok. Some areas where there is large empty spaces.&lt;br /&gt;
*Good amount of pictures and text.&lt;br /&gt;
*Informative content.&lt;br /&gt;
--[[User:Z3217043|z3217043]] 10:55, 22 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 6 ==&lt;br /&gt;
&lt;br /&gt;
1. The palatal shelves fuse in week 9.&lt;br /&gt;
&lt;br /&gt;
2. The chicken model was used.&lt;br /&gt;
&lt;br /&gt;
3. The abnormality is Tetralogy of Fallot.&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 5 ==&lt;br /&gt;
&lt;br /&gt;
The most common side is the left side. This is due to the mutation in the pulmonary development gene which causes diaphragmatic hernia. It causes hernia as the left pleural cavity is sealed off at a later stage of development. &lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 4 ==&lt;br /&gt;
&lt;br /&gt;
1. It is continuous with the bladder.&lt;br /&gt;
&lt;br /&gt;
2. Ductus venosus in the liver, Oval foramen between the atria and Ductus arteriosus from the left pulmonary artery to the dorsal aorta (6th arterial arch from the left). &lt;br /&gt;
&lt;br /&gt;
3. I will be doing the history and treatment of thalassemia.&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 10:31, 25 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 3 ==&lt;br /&gt;
&lt;br /&gt;
1. Folic Acid and Iodine&lt;br /&gt;
&lt;br /&gt;
2. [[File:Thalassemia_pic.jpg|200px|thumb|left|Miotic Cell Defects]] --[[User:Z3217043|z3217043]] 11:06, 18 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 2 ==&lt;br /&gt;
&lt;br /&gt;
1. Identify the ZP protein that spermatozoa binds and how is this changed (altered) after fertilisation. &lt;br /&gt;
&lt;br /&gt;
ZP3, it initiates the acrosome reaction, where acrosomal cortical granules are exocytosed from the egg. The granules modify the zona pellucida by making it unable to bind with further sperm and also hardened it.&lt;br /&gt;
&lt;br /&gt;
2. Review articles&lt;br /&gt;
&lt;br /&gt;
[http://www.ncbi.nlm.nih.gov.wwwproxy0.library.unsw.edu.au/pubmed/21806986 A rapid detection for α-thalassemia by PCR combined with dissociation curve analysis]&lt;br /&gt;
&lt;br /&gt;
[http://www.ncbi.nlm.nih.gov.wwwproxy0.library.unsw.edu.au/pubmed/21239835 Hematopoietic stem cell transplantation in thalassemia]&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 20:31, 10 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 1 ==&lt;br /&gt;
&lt;br /&gt;
1. Robert G Edwards&lt;br /&gt;
&lt;br /&gt;
2. B Klln, O Finnstrm, A Lindam, E Nilsson, K-G Nygren, P Otterblad Olausson Trends in delivery and neonatal outcome after in vitro fertilization in Sweden: data for 25 years. Hum. Reprod.: 2010, 25(4);1026-34 PMID:20139431 &lt;br /&gt;
&lt;br /&gt;
Paper discussing the decrease in unwanted outcomes in IVF in Sweden.&lt;br /&gt;
&lt;br /&gt;
3. Congenital Dislocated Hip and Cleft Palate&lt;br /&gt;
&lt;br /&gt;
--z3217043 20:58, 3 August 2011 (EST)&lt;/div&gt;</summary>
		<author><name>Z3217043</name></author>
	</entry>
	<entry>
		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=75494</id>
		<title>2011 Group Project 1</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=75494"/>
		<updated>2011-10-06T00:14:09Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: &lt;/p&gt;
&lt;hr /&gt;
&lt;div&gt;{{2011ProjectsMH}}&lt;br /&gt;
----&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Turner Syndrome ==&lt;br /&gt;
&lt;br /&gt;
== Introduction ==&lt;br /&gt;
&lt;br /&gt;
Turner Syndrome, named after Henry Hubert Turner who first described the syndrome in his paper in 1938,&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;4557013&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; is one of the most commonly occuring chromosomal disorders. It is caused by a complete or partial X [[#Glossary19 | '''monosomy''']] in some or all cells and occurs in approximately 1 in 2000 live births in females only, however the morbidity rate of spontaneous abortions is 10% and only about 1% of fetuses survive to term. &lt;br /&gt;
&lt;br /&gt;
[[File:Karyotype.jpg|400px|thumb|right|The arrow indicates the presence of only one X chromosome in Karyotype &amp;lt;ref&amp;gt;www.ncbi.nlm.nih.gov/pmc/articles/PMC2910953/figure/F0002/&amp;lt;/ref&amp;gt;.]]&lt;br /&gt;
&lt;br /&gt;
During normal fetal development, each ovary contain as many as 7 million oocytes. The oocytes gradually reduce to 400,000 during menarche and during menopause fewer than 10,000 remains. However, in Turner syndrome, the ovaries develop normally during embryogenesis but the absence of the second X chromosome leads to an accelerated loss of oocytes, which is complete by the time the infant is 2 years of age. Genetically menopause occurs before menarche and the ovaries are reduced to atrophic fibrous strands, devoid of ova and follicles (streak ovaries). Development of somatic (nongonadal) tissues that reside on the missing/abnormal X chromosome are also severely affected. For example short stature is caused by a deletion of the Xp chromosome and the deletion of Xq causes gonadal dysfunction &amp;lt;ref&amp;gt;Pathologic Basis of Disease, 8th Ed. V. Kumar, R. Cotran &amp;amp; S Robbins (2007), Saunders &amp;amp; Co.&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The most frequent clinical feature is short stature and gonadal dysgenesis. Other features may include [[#Glossary4 | '''coarctation''']] of the aorta, renal anomalies, neck webbing, and lymphoedema. The affected organ systems and tissues may be effected to a lesser or greater extent. In each person who has Turner Syndrome, all vary in their clinical phenotype. In recent years there has been increased interest in Turner Syndrome due to the introduction of growth hormone treatment. There has been marked improvement in the understanding of this condition as advances in molecular genetic techniques occur. However, there still needs for further research. A multidisciplinary approach to treatment is important to improve the quality of life of girls with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Epidemiology ==&lt;br /&gt;
&lt;br /&gt;
[[File:Stats abnormal.jpg|300px|thumb|left|The arrow indicates the presence of only one X chromosome in the karyotype &amp;lt;ref&amp;gt;www.ncbi.nlm.nih.gov/pmc/articles/PMC2910953/figure/F0002/&amp;lt;/ref&amp;gt;.]]&lt;br /&gt;
&lt;br /&gt;
Turner Syndrome affects about 1 in 2000 live-born females. There are three types of karyotypic abnormalities but the most frequently seen is where the entire X chromosome is missing resulting in 45 X [[#Glossary17 | '''karyotype''']]. The remaining third have structural abnormalities of the X chromosomes and two thirds are mosaics. Whereby, the maternal X is retained in two-thirds of women and the paternal X in the remainder.&lt;br /&gt;
The phenotype of Turner Syndrome varies but involves anomalies of the sex chromosome. It could be caused by the limited amount of genetic material in these abnormal chromosomes. Turner Syndrome can be transmitted from mother to daughter, and thus could be described as a heredity linked syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The loss of one of the sex chromosomes of Turner Syndrome occurs after the zygote has formed or just after the fusion of the [[#Glossary10 | '''gametes''']]. In 70-80% of cases the retained X is from the mother. In such circumstances it has lead to the different phenotypic expression of the genes present on the X chromosome depending if it came from the mother or father. &lt;br /&gt;
The morphological differences from those retaining the maternal compared to retaining the paternal X have shown to have a greater incidence of cardiovascular anomalies and neck webbing. &lt;br /&gt;
The missing sex chromosome could be either an X or a Y. This has clinical implications because if the Y material is present there is a risk of up to 30% of [[#Glossary11 | '''gonadoblastoma''']] developing in the dysgenetic gonads. This is because the 'gonadoblastoma locus' is on the Y chromosome which is situated just below the centromere.&lt;br /&gt;
The inactivation of the abnormal X chromosomes is another cause that primarily affects hypogonadism phenotypically in females.  &amp;lt;ref&amp;gt;Wade, Nicholas (2009-09-15). '''&amp;quot;New Clues to Sex Anomalies in How Y Chromosomes Are Copied&amp;quot;'''. The New York Times. Retrieved 2010-05-26. http://www.nytimes.com/2009/09/15/science/15chrom.html?pagewanted=1&amp;amp;_r=1&amp;amp;hpw&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Etiology ==&lt;br /&gt;
[[File:nondisjunction.jpg|1000px|thumb|right|alt text|This figure shows the progeny created from normal disjunction (A), and non-disjunction during both Meiosis I (B) and Meiosis II (C).]]&lt;br /&gt;
&lt;br /&gt;
Causation of Turner Syndrome can be traced back to the stages of sex-cell development.  When sex cells divide through a process called [[#Glossary18 | '''meiosis''']] to create gametes, either a [[#Glossary12 | '''haploid''']] egg (for females) or sperm (for males) two divisions occur, Meiosis I and Meiosis II.  Meiosis is the main process which helps create the vast genetic diversity within all populations by allowing [[#Glossary25 | '''recombination''']] and [[#Glossary24 | '''random assortment''']].  During Meiosis I [[#Glossary14 | '''homologous chromosomes''']] are separated; following Meiosis I, [[#Glossary27 | '''sister chromatids''']] separate during Meiosis II.  If during either stage of Meiosis I or II the homologous chromosomes or sister chromatids, respectively, do not fully separate, a phenomenon can occur called [[#Glossary21 | '''nondisjunction''']].  Nondisjunction causes an uneven distribution of genetic material to each daughter nuclei.  When an uneven distribution is such that one of the gametes does not have any of a chromosome, it can combine with another normal gamete to create a fertilized egg with only one chromosome as opposed to the normal two that are found in human cells; this is called a monosomy.  When this occurs in the sex chromosomes leaving only a single X chromosome (X0 genotype) Turner Syndrome is created, leaving only 45 chromosomes in the zygote rather than the normal 46.  &lt;br /&gt;
&lt;br /&gt;
[[File:22+23=45.jpg|400px|thumb|right|22 chromosomal egg + 23 chromosomal sperm = 45 chromsomes in zygote instead of normal 46.]]&lt;br /&gt;
Turner Syndrome can also be created by partial monosomy or disjunctions, meaning that although a whole X chromosome is not missing, portions of it are not present or are non-functional, rendering the chromosome useless.  Any disjunction seems to be completely sporadic and have yet to be attributed to any genetic link. The only thing known for sure is that during conception a portion of or the whole second sex chromosome is not conveyed to the zygote.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;7763055&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; Because at least one X chromosome is necessary for vital functions, this condition can only be found in females.&lt;br /&gt;
&lt;br /&gt;
== Clinical Manifestations ==&lt;br /&gt;
&lt;br /&gt;
The following are a list of characteristics and diseases which tend to accompany, be caused by, or be related to Turner Syndrome.  &lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| &lt;br /&gt;
| '''Clinical Manifestations'''&lt;br /&gt;
| '''Image(s)'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Physical Attributes'''&lt;br /&gt;
|&lt;br /&gt;
*congenital malformations (heart, urinary system, face, neck, ears) &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*gonadal dysgenesis (causes estrogen deficiencies, which can cause infertility) &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*increased risk of fractures &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16624607&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low cortical bone mineral density (BMD) &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;/&amp;gt;&lt;br /&gt;
*middle ear infections &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*premature ovarian failure &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*short/reduced stature &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*webbed neck &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;17562588&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Webbed Neck.jpg|none|thumb|300px|Here is an example of neck webbing.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Decreased Cognition'''&lt;br /&gt;
|&lt;br /&gt;
*emotion processing difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;20014362&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*increased impulsivity &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;19750135&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low IQ score &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
*nonverbal learning disability (slow math calculations)&amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*social cognition difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*visuoperception/visuoconstruction deficit (identifying and locating is difficult due to poor visual working memory) &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Increased Risk of'''&lt;br /&gt;
|&lt;br /&gt;
*cirrhosis of the liver &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*colon and rectal cancers &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*hypothyroidism &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*inflammatory bowel disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
*morbidity and mortality &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*neurovascular disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*osteoporosis &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*ovarian failure &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*renal and gastrointestinal disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Prone to Develop Autoimmune Conditions'''&lt;br /&gt;
|&lt;br /&gt;
*alopecia areata &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coeliac disease (CD) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12466343&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*psoriasis &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;/&amp;gt;&lt;br /&gt;
*thyroiditis &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*type 1 diabetes &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
|[[File:Psoriasis.jpg|none|thumb|300px|Here is an example of a patient with psoriasis on their arm.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Cardiac Abnormalities''' (most serious/life threatening medical problems created by Turner Syndrome)&lt;br /&gt;
|&lt;br /&gt;
*absence of portal vein &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16612647&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*aortic dilatation and dissection  &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*arrhythmias &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;17015510&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*arteriosclerosis &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*biscuspid aortic valves &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*coarctation of the aorta &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*hypertension &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*ischemic heart disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*mitral valve prolapsed &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
== Diagnostic Procedures ==&lt;br /&gt;
&lt;br /&gt;
===Diagnostic Definition===&lt;br /&gt;
&lt;br /&gt;
[[File:Turner Syndrome X Chromosome Variations.jpg|thumb|right|Variations of the Second X Chromosome in Turner Syndrome]]&lt;br /&gt;
Turner syndrome is diagnosed through both an evaluation of physical features and by analysis of the second sex chromosome. The two criteria must be met for classification of Turner syndrome, an abnormality in the second sex chromosome must be found and the abnormality must be found to be expressed somehow in the individual's traits. Hence if physical characteristics are not present even when the cytogenetic criterion is met the patient is not diagnosed as having Turner syndrome.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; In Turner syndrome the second sex chromosome is either:&lt;br /&gt;
&lt;br /&gt;
*Completely absent (45,X)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Partially absent&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
*Forms an isochromosome (isoXq), possessing a long arm duplication (q) and being devoid of a short arm (p)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*In a ring formation (rX)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
*Is devoid of the homeobox gene, [[#Glossary26 | '''SHOX''']] (short stature homeobox), the deletion being prior to the junction between Xp22.2 and Xp22.3&amp;lt;ref name=&amp;quot;PMID21325865&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
Any of these variations of the second sex chromosome may occur with or without cell line [[#Glossary20 | '''mosaicism''']].&lt;br /&gt;
Turner syndrome may be diagnosed prenatally or postnatally, using this genetic diagnostic definition coupled with an appropriate phenotypic evaluation of the individual, as outlined below.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Prenatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
The prenatal diagnostic tool for Turner syndrome is karyotype screening and testing for phenotype abnormalities. If Turner syndrome is diagnosed prenatally, karyotype screening and an evaluation of the individual's traits should be conducted again postnatally for confirmation of this diagnosis. Turner syndrome is frequently diagnosed after karyotype screening during [[#Glossary5 | '''chorionic villous sampling''']] or [[#Glossary2 | '''amniocentesis''']].&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
The table below outlines various prenatal tests conducted and the indications that may be present in babies with Turner syndrome. Although these techniques and the indications they reveal may highlight Turner syndrome signs, they should not be used as sole diagnostic tools.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Technique'''&lt;br /&gt;
| '''Turner syndrome indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Ultrasound'''&lt;br /&gt;
|&lt;br /&gt;
*Increased nuchal translucency &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary6 | '''Cystic hygroma''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Coarctation of the aorta &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Left-sided cardiac defects &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary3 | '''Brachycephaly''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Renal anomalies &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary23 | '''Polyhydramnios''']] &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary22 | '''Oligohydramnios''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Growth retardation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;10599686&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Turner Syndrome Test Showing Nuchal Translucency.gif|none|thumb|400px|Figure 2: Ultrasound Test Showing Nuchal Translucency.]]&lt;br /&gt;
[[File:Turner Syndrome Test Showing Cystic Hygroma.gif|none|thumb|400px|Figure 3: Ultrasound Test Showing Cystic Hygroma.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Maternal serum screening'''&lt;br /&gt;
|&lt;br /&gt;
*Abnormal [[#Glossary1 | '''α-fetoprotein''']] levels &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary16 | '''inhibin A''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary13 | '''hCG''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal unconjugated [[#Glossary9 | '''estriol''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
|[[File: TurnerSyndromeMaternalSerumSampling.jpg|none|thumb|400px|Figure 4: Maternal Serum Sampling.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
===Postnatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
In postnatal diagnosis, karyotype investigation is undertaken for the individual. When a female presents with the following clinical findings, explained in table below, it is recommended that chromosomal analysis is undertaken, so that Turner syndrome may be eliminated&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;:&lt;br /&gt;
{|sstyle= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Age'''&lt;br /&gt;
| '''Phenotypic manifestations/indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Baby/infant'''&lt;br /&gt;
|&lt;br /&gt;
*Oedema of the hands or feet&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Nuchal folds &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Cardiac abnormalities for example aortic dilation, bicuspid aortic valve and aortic coarctation &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Low hairline &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Low set ears &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Small mandible &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Gonadal dysgenesis &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
|&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Child'''&lt;br /&gt;
| &lt;br /&gt;
*Short stature with low growth velocity &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Turned in elbows &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Nail [[#Glossary15 | '''hypoplasia''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Hyperconvex uplifted nails &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Multiple pigmented benign birthmarks/moles &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Characteristic faecies &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Short fourth metacarpal &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*High arched palate &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Extensive and chronic inflammation/infection of the ear &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Hearing loss &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 4 year old child.jpg|left|thumb|150px|Figure 5: Four-year-old girl with Turner's syndrome. Note somewhat broad chest, prominent ears and ptosis, but otherwise normal proportion. There is no pronounced neck webbing or edema.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Adolescent/Adult'''&lt;br /&gt;
|&lt;br /&gt;
*Absence of breast development by 13 yr of age &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Pubertal arrest &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Primary or secondary amenorrhoea&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Unexplained short stature &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Renal abnormalities &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Immune disorders &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 35 year old woman.jpg|none|thumb|150px|Figure 6: A Thirtyfive-year-old woman with Turner's syndrome. Note increased carrying angle of arms, broad flat chest and sexual infantilism, but the lack of pronounced neck webbing or peripheral edema.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Since an absence of the physical signs of puberty and/or growth failure are often seen as normal variations in the population, these possible indications/symptoms of Turner syndrome may not be further investigated by many clinicians.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20361125&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; When karyotyping in order to exclude natural cell variation, a sufficient number of cells should be assessed. Whilst a sample of blood will often reveal Turner syndrome, an evaluation of a second tissue sample like the skin is recommend.&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
[[#Glossary7 | '''DNA hybridisation''']] or fluorescent in situ hybridisation should be conducted using a Y centromeric or short arm probe to detect for any additional Y or X chromosomal material.&lt;br /&gt;
If there is any of the Y chromosome present, this may initiate gonadoblastoma development, another primary indicator of Turner syndrome. Hence the individual should have both a vaginal [[#Glossary28 | '''ultrasonograph''']] and colour [[#Glossary8 | '''Doppler sonograph''']] of their gonads to detect whether any Y chromosome fragments are present. These tests should be repeated regularly to monitor the patient for any malignancy, if a gonadectomy is not undertaken.&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== Treatment ==&lt;br /&gt;
&lt;br /&gt;
=== Cardiac Treatment ===&lt;br /&gt;
&lt;br /&gt;
When patients are confirmed with Turner Syndrome, it is necessary to have a full cardiac evaulation including a physical exam and a echocardiogram. If cardiac abnormalities are found, monitoring by a cardiologist is recommended including regular blood pressure checks&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  Coarctation of the aorta and hypoplastic left heart are quite often very serious issues are need to be dealt with surgically&amp;lt;ref name=&amp;quot;Hall&amp;quot;&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
If no abnormalities are found, blood pressure in Turner Syndrome patients is still routinely checked and a follow up cardiac evaulation is recommended for girls around the age of puberty (12-15)&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Speech ===&lt;br /&gt;
&lt;br /&gt;
Many Turner Syndrome patients have trouble with their speech. It is necessary for them to be refered to an Ear, Nose and Throat specialist and to a speech therapist to work on improve any speech problems&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Management of Puberty and Growth ===&lt;br /&gt;
The main treatment for growth and pubertal development is Hormone Replacement Therapy. Growth Hormone is adminstered to girls with abnormal growth, resulting in postive growth that is consistent with the expected height of the patient. It is adminstered as early as 2 years of age, but more often in the age group of 9-12 which is in line with the growth spurt that occurs during puberty&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Natural estrogen and progesterone are administered to girls when they reach the age of puberty in early adolescence. The age at which this treatment commences varies between individuals, as does the dosage. The adminsteration of estrogen will begin the process of puberty in girls affected by Turner Syndrome and it is important that this begins around the same time as her peers&amp;lt;ref name=&amp;quot;Hall&amp;quot;/&amp;gt;. The use of estrogen is often held off if the patient is also undergoing GH treatment so that maximum growth can be achieved, as estrogen will induce the fusion of the epiphyses and limit longitudinal bone growth&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Around 10% of nonmosaic and 20% of mosaic women with Turner’s will have spontaneous menses (periods) and may not need to undergo Hormone Replacement to initiate puberty. Around 2-5% of these women will have the potential to fall pregnant naturally&amp;lt;ref name=&amp;quot;Hall&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
=== Appearance ===&lt;br /&gt;
&lt;br /&gt;
Extreme neck webbing maybe worrying or uncomfortable to women with Turner’s and in some cases plastic surgery is undertaken to fix this problem. Also if convex gorwth of toenails occurs, surgery is conducted so that the woman can wear normal shoes&amp;lt;ref name=&amp;quot;Hall&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Ongoing Adult Treatment ===&lt;br /&gt;
&lt;br /&gt;
Closely monitoring the health of Turner Syndrome adults is vital in the reduction of morbidity and mortality. An annual physical evalution should be undertaken which includes, blood pressure, heart auscultation, thyroid function, breast exam, and pap smear&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  &lt;br /&gt;
&lt;br /&gt;
Particular attention needs to be taken in the area of weight and obesity in Turner Syndrome women due to their high risk of developing diabetes, osteoporosis and hypertension. Patients are to be encouraged to have a healthy lifestyle including healthy eating and exercise&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Research ==&lt;br /&gt;
&lt;br /&gt;
===Current research===&lt;br /&gt;
&lt;br /&gt;
Since there is no preventative or cure, currently mainly research is being conducted into the areas of symptoms, possible treatments and risks involved with Turner syndrome.&lt;br /&gt;
&lt;br /&gt;
'''Growth hormone therapy in Turner syndrome: its affect on height, weight and stature.'''&lt;br /&gt;
*'''Growth hormone effect on body composition in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21720878&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research findings from this paper conclude that people with Turner syndrome have lower height, higher BMI and higher proportional sitting height and leg length than that of the normal population, no matter whether they undergo hormone replacement therapy or not.&lt;br /&gt;
*'''Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21619701&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study has concluded that all adults with Turner syndrome had a similar quality of life regardless of whether they have a higher stature due to undergoing growth hormone replacement therapy or not. It was hypothesised that height differences did not affect quality of life as the individuals seemed to adapt to their own life challenges.&lt;br /&gt;
*'''Growth hormone treatment for Turner syndrome in Australia reveals that younger age and increased dose interact to improve response.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21375553&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research from this study found that growth hormone therapy works most optimally if given earlier in life and at a high dose in the first year of treatment.&lt;br /&gt;
*'''Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21398400&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: Another study which confers that the early introduction of growth hormone therapy is most efficacious. However the individual's glucose metabolism should be monitored as the hormones may affect glucose tolerance transiently.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Oestrogen hormone replacement therapy in Turner syndrome: the adequate dosage and its effect on uterine development, breast development, bone mineral density and sexual characteristics.'''&lt;br /&gt;
*'''Growth hormone plus childhood low-dose estrogen in Turner's syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21449786&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study indicates that undergoing both growth hormone and oestrogen therapy together may help increase the efficacy of each (increasing growth in height and pubertal development) more than when they act alone. &lt;br /&gt;
*'''Estrogen requirements in girls with Turner syndrome; how low is enough for initiating puberty and uterine development?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21793702&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study assessed the minimal dosage of estrogen that is required to bring about desired pubertal development in girls with Turner syndrome.&lt;br /&gt;
*'''Puberty induction in Turner syndrome: results of oestrogen treatment on development of secondary sexual characteristics, uterine dimensions and serum hormone levels.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19200215&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: It was found that uterus of women with Turner syndrome who had undergone oestrogen was underdeveloped, however the exact cause of this needs to be further researched.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Pregnancy and Turner syndrome: evaluation and treatment of risks involved with pregnancy for: the mothers of Turner syndrome babies, for individuals with Turner syndrome and for the babies of individuals with Turner syndrome.'''&lt;br /&gt;
*'''Familial occurrence of Turner syndrome: casual event or increased risk?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21648298&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research examined whether there is a higher probability of having a second child with Turner syndrome and concluded that there is evidence in the small cohort that they used of a greater probability. It is suggested that a larger study be conducted to look further into these findings.that &lt;br /&gt;
*'''Obstetric Outcomes in Women with Turner Karyotype.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21865365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: In this study it was found that women with Turner syndrome had shorter pregnancies than that of a control group, but no other marked difference was observed between the groups.&lt;br /&gt;
*'''Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21496813&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This paper examined a number of pregnant women with Turner syndrome, some who incidentally went through puberty even though they had no hormone replacement therapy and another group that had undertaken hormone replacement therapy. Though there were not many complications in either group, the groups were small in number and one mother did have cardiovascular difficulties later on in life. Hence a thorough examination of pregnant Turner syndrome women should be conducted prior to conception.&lt;br /&gt;
*'''Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20923275&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This article assessed the prognosis of pregnant women with Turner syndrome. They concluded that spontaneous pregnancy increases the risk of the baby having phenotypic and chromosomal abnormalities compared with women having assisted reproductive therapies.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Future research=== &lt;br /&gt;
&lt;br /&gt;
Future research needs to be conducted in the following areas: to follow up on the suggestions given in the conclusions of current research papers as outlined in the prior section and also into how the care system is functioning for Turner syndrome individuals as outlined below.&lt;br /&gt;
&lt;br /&gt;
*'''Medical Care of Girls with Turner Syndrome: Where are we Lacking?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21454226&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research found that a large proportion (&amp;gt;50%) of people with Turner syndrome are not given adequate information upon diagnosis or screenings for complications and symptoms. Therefore it is suggested in order to rectify this issue that more education should be given to physicians on the syndrome&lt;br /&gt;
*'''Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21752892&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; and '''Turner's syndrome requires multidisciplinary approach.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19514616&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: These article evaluate the need for a multidisciplinary approach to treatment of Turner syndrome. Since the symptoms can be wide ranging and severe, it is difficult but necessary for all of them to be examined in each individual. Hence a greater care plan for individuals should be implemented upon diagnosis.&lt;br /&gt;
&lt;br /&gt;
== Glossary ==&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary1&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Alpha-fetoprotein''' is a protein with an unknown function. It makes up, up to one third of the protein serum levels found in the second trimester of pregnancy and in neural tube defects, these alpha-fetoprotein levels are elevated. &amp;lt;ref name=&amp;quot;McPherson&amp;quot;&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary2&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Amniocentesis''' is a prenatal diagnostic tool. The procedure involves the sampling of amniotic fluid from the amniotic sac using a syringe, that is then tested for a number of abnormalities. &amp;lt;ref name=&amp;quot;Moore&amp;quot;&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary3&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Brachycephaly''' is a condition where the coronal suture of the skull fuses prematurely. Since the skull is unable to expand any further in the anterior-posterior directions due to this closure, it grows to an abnormal size in in the lateral dimension.&amp;lt;ref&amp;gt;Flint, P 2010, ''Flint: Cummings Otolaryngology: Head &amp;amp; Neck Surgery, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-323-05283-2..00186-5--s0045&amp;amp;isbn=978-0-323-05283-2&amp;amp;uniqId=282726024-5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary4&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Coarctation''' of the aorta is an abnormality where the aorta is constricted at one or various sections. This can be caused by genetic and/or environmental factors.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary5&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Chorionic villous sampling''' is a prenatal diagnostic tool which can be used from 7 weeks after fertilisation. It is used to test for a number of chromosomal abnormalities including X-linked and metabolic disorders.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary6&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Cystic hygroma''' is a prenatal abnormality where fluid builds up in the posterior portion of the neck. The body may or may not relieve itself naturally of this accumulation of fluid after birth. &amp;lt;ref&amp;gt;Gabbe, S 2007, ''Gabbe: Obstetrics: Normal and Problem Pregnancies, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-443-06930-7..50011-6--cesec51&amp;amp;isbn=978-0-443-06930-7&amp;amp;uniqId=282726024-10&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary7&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''DNA-DNA hybridisation''' is a technique used to compare the similarities and differences between two sets of genes.&amp;lt;ref&amp;gt;Long, S 2009, ''Bradley: Neurology in Clinical Practice, 5th ed.Long: Principles and Practice of Pediatric Infectious Diseases Revised Reprint, 3rd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X&amp;amp;isbn=978-0-7020-3468-8&amp;amp;uniqId=282726024-19#4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary8&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Doppler sonography''' uses the doppler effect to help image and measure blood flow pattern in the patient.&amp;lt;ref name=&amp;quot;Bradley&amp;quot;&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary9&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Estriol''' is a hormone that is produced in greater amounts during pregnancy especially in the second and third trimester. One of its main functions is to assist with blood flow in the placenta and uterus.&amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary10&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Gametes''' are reproductive (sex) cells (ie: eggs and sperm) that can unite to form a new cell called a zygote. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6&amp;amp;isbn=978-0-443-06811-9&amp;amp;uniqId=283289096-4#4-u1.0-B978-0-443-06811-9..10001-6--b0020&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary11&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Gonadoblastoma''' is an abnormal proliferation of gonadal cells, that may or may not be malignant.&amp;lt;ref name=&amp;quot;Wein&amp;quot;&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary12&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Haploid''' is the status of a cell having only a single set of unpaired chromosomes, or half the number of chromosomes contained in typical body cells. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary13&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''hCG''' is the abbreviation for human chorionic gonadotropin. It is a hormone that functions in the early stage of pregnancy to maintain the blood supply to the corpus luteum.&amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary14&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Homologous chromosomes''' are pairs of chromosomes, one each obtained from maternal and paternal gametes.  46 total chromosome complements are within an organism, 22 pairs of which are homologous chromosomes (called autosomes); the other 2 chromosomes are the sex chromosomes. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary15&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Hypoplasia''' is when an organ or tissue is not completely developed.&amp;lt;ref name=&amp;quot;Wein&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary16&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Inhibin A''' is a peptide produced by the ovaries and acts to restrain the production of follicle-stimulating hormone.&amp;lt;ref&amp;gt;Melmed, S 2011, ''Melmed: Williams Textbook of Endocrinology, 12th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0324-5..00045-6&amp;amp;isbn=978-1-4377-0324-5&amp;amp;uniqId=282726024-25 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary17&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Karyotype''' is an individual's set of chromosomes, both their number and appearance.&amp;lt;ref name=&amp;quot;McPherson&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary18&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Meiosis''' is the specific process of cell division within sex cells which halves the number of chromosomes in the cells through via two cell divisions; this is specific to germ cells only, creating haploid gametes (sex cells) from diploid cells. &amp;lt;ref name=&amp;quot;Moore2&amp;quot;&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary19&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Monosomy''' is a condition wherein a specific chromosome is completely missing within one gamete that combines with a normal gamete to form a zygote; a chromosome has no homologue, or matching chromosome, to pair with. &amp;lt;ref name=&amp;quot;Schoenwolf&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary20&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Mosaicism''' is when a particular type or all cells of an individual do not have the same genetic makeup. This is caused by a mutation during embryonic cell division.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary21&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Nondisjunction''' is the failure of chromosome pairs to separate entirely during either stage of Meiosis. &amp;lt;ref name=&amp;quot;Moore2&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary22&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Oligohydramnios''' is a prenatal condition, where there is an insufficient amount of amniotic fluid.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary23&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Polyhydramnios''' is a prenatal condition, where there is an excessive amount of amniotic fluid.&amp;lt;ref name=&amp;quot;Moore&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary24&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Random assortment'''&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary25&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Recombination''' is the process which by genetic material is crossed over and switched between two segments of DNA which adds to the genetic diversity of the genome.&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary26&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''SHOX gene''' is the short stature homeobox gene, that when deficient frequently results in short stature.&amp;lt;ref name=&amp;quot;PMID21325865&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary27&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Sister chromatids'''&lt;br /&gt;
&lt;br /&gt;
*&amp;lt;div id=&amp;quot;Glossary28&amp;quot;&amp;gt;&amp;lt;/div&amp;gt;'''Ultrasonography''' is a medical technique that employs ultrasound frequencies to visualise a patient's internal bodily structure.&amp;lt;ref name=&amp;quot;Bradley&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== References ==&lt;br /&gt;
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&amp;lt;references/&amp;gt;&lt;br /&gt;
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{{2011Projects}}&lt;/div&gt;</summary>
		<author><name>Z3217043</name></author>
	</entry>
	<entry>
		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=73774</id>
		<title>2011 Group Project 1</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=73774"/>
		<updated>2011-09-30T11:30:20Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: /* Postnatal Diagnosis */&lt;/p&gt;
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&lt;div&gt;{{2011ProjectsMH}}&lt;br /&gt;
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== Turner Syndrome ==&lt;br /&gt;
&lt;br /&gt;
--[[User:S8600021|Mark Hill]] 10:44, 8 September 2011 (EST) Some of the existing sub-sections have appropriate content, but there are also empty sub-sections, a total lack of referencing/citation and no glossary. &lt;br /&gt;
* The referencing issue needs urgent  progress.&lt;br /&gt;
* Existing figures/table are appropriate. Table appears to be directly used from an uncited source.&lt;br /&gt;
* There needs to be more images in this work.&lt;br /&gt;
* Where is the student drawn figure?&lt;br /&gt;
* Read http://embryology.med.unsw.edu.au/embryology/index.php?title=Help:Reference_Tutorial#Multiple%20Instances%20on%20Page&lt;br /&gt;
&lt;br /&gt;
== Introduction ==&lt;br /&gt;
&lt;br /&gt;
Turner syndrome, named after Henry Hubert Turner who first described the syndrome in his paper in 1938,&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;4557013&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; is one of the most commonly occuring chromosomal disorders. It is caused by complete or partial X monosomy in some or all cells and occurs in approximately 1 in 2000 live female births, however the morbidity rate of spontaneous abortions is 10% and only about 1% of fetuses survive to term. &lt;br /&gt;
&lt;br /&gt;
During normal fetal development, each ovary contain as many as 7 million oocytes. The oocytes gradually reduced to 400,000 during menarche and during menopause fewer than 10,000 remains. However, in Turner syndrome, the ovaries develop normally during embryogenesis but the absence of the second X chromosome leads to an accelerated loss of oocytes, which is complete by the time the infant, is aged 2. Genetically menopause occurs before menarche and the ovaries are reduced to atrophic fibrous strands, devoid of ova and follicles (streak ovaries). Development of somatic (nongonadal) tissues that reside on the missing/abnormal X chromosome are also severely affected. For example short stature is caused by a deletion of the Xp chromosome and the deletion of Xq causes gonadal dysfunction &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt; 6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
 &lt;br /&gt;
The most frequent clinical feature is short stature and gonadal dysgenesis. Other features may include coarctation of the aorta, renal anomalies, neck webbing, and lymphoedema. The affected organ systems and tissues may are effected to a lesser or greater extent amongst that are affected by turner syndrome. Each person who has turner syndrome all vary in their clinical phenotype. In recent years there has been increased interest in Turner Syndrome due to the introduction of growth hormone treatment. There has been marked improvement in the understanding of this condition as advances in molecular genetic techniques occur. However, there still further research to be completed. A multidisciplinary approach to treatment is important to improve the quality of life of girls with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
 &lt;br /&gt;
[[File:Karyotype.jpg|200px|thumb|left|The arrow indicates the presence of only one X chromosome in Karyotype]]&lt;br /&gt;
&lt;br /&gt;
== Epidemiology ==&lt;br /&gt;
&lt;br /&gt;
Turner Syndrome affects about 1 in 2000 live-born females. There are three types of karyotypic abnormalities but the most frequently seen is where the entire X chromosome is missing resulting in 45 X karyotype. The remaining third have structural abnormalities of the X chromosomes, and two thirds are mosaics. Whereby, the maternal X is retained in two-thirds of women and the paternal X in the remainder.&lt;br /&gt;
The phenotype of Turner Syndrome is varies but it involves anomalies of the sex chromosome. It could be caused by the limited amount of genetic material in these abnormal chromosomes. Turner Syndrome can be transmitted from mother to daughter, and thus can it could be described as a heredity linked syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The loss of one of the sex chromosomes of turner syndrome occurs after the zygote has formed or just after the fusion of the gametes. In 70-80% of cases the retained X is from the mother. In such circumstances has lead to the different phenotypic expression of the genes present on the X chromosome depending upon if it came from the mother or father. &lt;br /&gt;
The morphological differences from those retaining the maternal compared to retaining the paternal X is have shown to have a greater incidence of cardiovascular anomalies and neck webbing. &lt;br /&gt;
The missing sex chromosome could be either an X or a Y. This has clinical implications because if the Y material is present there is a risk of up to 30% of gonadoblastoma developing in the dysgenetic gonads. This is because the 'gonadoblastoma locus' is on the Y chromosome which is believed to be situated on the long arm of the Y just below the centromere.&lt;br /&gt;
Another factor affecting the phenotype in Turner syndrome is the inactivation of the abnormal X chromosomes. In a normal fetus there should be only one X chromosome that is active in each cell &amp;lt;ref&amp;gt;Wade, Nicholas (2009-09-15). '''&amp;quot;New Clues to Sex Anomalies in How Y Chromosomes Are Copied&amp;quot;'''. The New York Times. Retrieved 2010-05-26. http://www.nytimes.com/2009/09/15/science/15chrom.html?pagewanted=1&amp;amp;_r=1&amp;amp;hpw&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
[[File:Stats abnormal.jpg]]  &lt;br /&gt;
&lt;br /&gt;
Abnormalities associated with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Etiology ==&lt;br /&gt;
[[File:nondisjunction.jpg|850px|thumb|right|alt text|This figure shows the progeny created from normal disjunction (A), and non-disjunction during both Meiosis I (B) and Meiosis II (C).]]&lt;br /&gt;
&lt;br /&gt;
Causation of Turner Syndrome (TS) can be traced back to the stages of sex-cell development.  When sex cells divide through a process called [[#Glossary | '''meiosis''']] to create [[#Glossary | '''gametes''']], either a [[#Glossary | '''haploid''']] egg (for females) or sperm (for males) two divisions occur, Meiosis I and Meiosis II.  Meiosis is the main process which helps create the vast genetic diversity within all populations by allowing [[#Glossary | '''recombination''']] and [[#Glossary | '''random assortment''']].  During Meiosis I [[#Glossary | '''homologous chromosomes''']] are separated; following Meiosis I, [[#Glossary | '''sister chromatids''']] separate during Meiosis II.  If during either stage of Meiosis I or II the homologous chromosomes or sister chromatids, respectively, do not fully separate, a phenomenon can occur called [[#Glossary | '''nondisjunction''']].  Nondisjunction causes an uneven distribution of genetic material to each daughter nuclei.  When an uneven distribution is such that one of the gametes does not have any of a chromosome, it can combine with another normal gamete to create a fertilized egg with only one chromosome as opposed to the normal two that are found in human cells; this is called a [[#Glossary | '''monosomy''']].  When this occurs in the sex chromosomes leaving only a single X chromosome (X0 genotype) Turner Syndrome is created, leaving only 45 chromosomes in the zygote rather than the normal 46.  &lt;br /&gt;
&lt;br /&gt;
[[File:22+23=45.jpg|350px|thumb|left|22 chromosomal egg + 23 chromosomal sperm = 45 chromsomes in zygote instead of normal 46.]]&lt;br /&gt;
Turner Syndrome can also be created by partial monosomy or disjunctions, meaning that although a whole X chromosome is not missing, portions of it are not present or are non-functional, rendering the chromosome useless.  Any disjunction seems to be completely sporadic and have yet to be attributed to any genetic link. The only thing known for sure is that during conception a portion of or the whole second sex chromosome is not conveyed to the zygote.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;7763055&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; Because at least one X chromosome is necessary for vital functions, this condition can only be found in females.&lt;br /&gt;
&lt;br /&gt;
== Clinical Manifestations ==&lt;br /&gt;
&lt;br /&gt;
The following are a list of characteristics and diseases which tend to accompany, be caused by, or be related to Turner Syndrome.  &lt;br /&gt;
&lt;br /&gt;
===Physical Attributes:===&lt;br /&gt;
*congenital malformations (heart, urinary system, face, neck, ears) &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*gonadal dysgenesis (causes estrogen deficiencies, which can cause infertility) &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*increased risk of fractures &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16624607&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low cortical bone mineral density (BMD) &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;/&amp;gt;&lt;br /&gt;
*middle ear infections &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*premature ovarian failure &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*short/reduced stature &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*webbed neck &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;17562588&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Decreased Cognition:===&lt;br /&gt;
*emotion processing difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;20014362&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*increased impulsivity &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;19750135&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low IQ score &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
*nonverbal learning disability (slow math calculations)&amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*social cognition difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*visuoperception/visuoconstruction deficit (identifying and locating is difficult due to poor visual working memory) &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Increased Risk of:===&lt;br /&gt;
*cirrhosis of the liver &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*colon and rectal cancers &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*hypothyroidism &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*inflammatory bowel disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
*morbidity and mortality &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*neurovascular disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*osteoporosis &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*ovarian failure &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*renal and gastrointestinal disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Prone to Develop Autoimmune Conditions:=== &lt;br /&gt;
*alopecia areata &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coeliac disease (CD) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12466343&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*psoriasis &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;/&amp;gt;&lt;br /&gt;
*thyroiditis &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*type 1 diabetes &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Cardiac Abnormalities:===&lt;br /&gt;
(most serious/life threatening medical problems created by Turner Syndrome)&lt;br /&gt;
*absence of portal vein &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16612647&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*aortic dilatation and dissection  &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*arrhythmias &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;17015510&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*arteriosclerosis &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*biscuspid aortic valves &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*coarctation of the aorta &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*hypertension &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*ischemic heart disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*mitral valve prolapsed &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== Diagnostic Procedures ==&lt;br /&gt;
&lt;br /&gt;
===Diagnostic Definition===&lt;br /&gt;
&lt;br /&gt;
[[File:Turner Syndrome X Chromosome Variations.jpg|thumb|right|Variations of the Second X Chromosome in Turner Syndrome]]&lt;br /&gt;
Turner syndrome is diagnosed through both an evaluation of physical features and by analysis of the second sex chromosome. The two criteria must be met for classification of Turner syndrome, an abnormality in the second sex chromosome must be found and the abnormality must be found to be expressed somehow in the individual's traits. Hence if physical characteristics are not present even when the cytogenetic criterion is met the patient is not diagnosed as having Turner syndrome.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; In Turner syndrome the second sex chromosome is either:&lt;br /&gt;
&lt;br /&gt;
*Completely absent (45,X)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Partially absent&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
*Forms an isochromosome (isoXq), possessing a long arm duplication (q) and being devoid of a short arm (p)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*In a ring formation (rX)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
*Is devoid of the homeobox gene, [[#Glossary | '''SHOX''']] (short stature homeobox), the deletion being prior to the junction between Xp22.2 and Xp22.3&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
Any of these variations of the second sex chromosome may occur with or without cell line [[#Glossary | '''mosaicism''']].&lt;br /&gt;
Turner syndrome may be diagnosed prenatally or postnatally, using this genetic diagnostic definition coupled with an appropriate phenotypic evaluation of the individual, as outlined below.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Prenatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
The prenatal diagnostic tool for Turner syndrome is karyotype screening and testing for phenotype abnormalities. If Turner syndrome is diagnosed prenatally, karyotype screening and an evaluation of the individual's traits should be conducted again postnatally for confirmation of this diagnosis. Turner syndrome is frequently diagnosed after karyotype screening during [[#Glossary | '''chorionic villous sampling''']] or [[#Glossary | '''amniocentesis''']].&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
The table below outlines various prenatal tests conducted and the indications that may be present in babies with Turner syndrome. Although these techniques and the indications they reveal may highlight Turner syndrome signs, they should not be used as sole diagnostic tools.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Technique'''&lt;br /&gt;
| '''Turner syndrome indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Ultrasound'''&lt;br /&gt;
|&lt;br /&gt;
*Increased nuchal translucency &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Cystic hygroma''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Coarctation''']] of the aorta &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Left-sided cardiac defects &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Brachycephaly''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Renal anomalies &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Polyhydramnios''']] &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Oligohydramnios''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Growth retardation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;10599686&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Turner Syndrome Test Showing Nuchal Translucency.gif|none|thumb|400px|Figure 2: Ultrasound Test Showing Nuchal Translucency.]]&lt;br /&gt;
[[File:Turner Syndrome Test Showing Cystic Hygroma.gif|none|thumb|400px|Figure 3: Ultrasound Test Showing Cystic Hygroma.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Maternal serum screening'''&lt;br /&gt;
|&lt;br /&gt;
*Abnormal [[#Glossary | '''α-fetoprotein''']] levels &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary | '''inhibin A''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary | '''hCG''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal unconjugated [[#Glossary | '''estriol''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
|[[File: TurnerSyndromeMaternalSerumSampling.jpg|none|thumb|400px|Figure 4: Maternal Serum Sampling.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
===Postnatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
In postnatal diagnosis, [[#Glossary | '''karyotype''']] investigation is undertaken for the individual. When a female presents with the following clinical findings, explained in table below, it is recommended that chromosomal analysis is undertaken, so that Turner syndrome may be eliminated&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;:&lt;br /&gt;
{|sstyle= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Age'''&lt;br /&gt;
| '''Phenotypic manifestations/indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Baby/infant'''&lt;br /&gt;
|&lt;br /&gt;
*Oedema of the hands or feet&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Nuchal folds &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Cardiac abnormalities for example aortic dilation, bicuspid aortic valve and aortic coarctation &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Low hairline &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Low set ears &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Small mandible &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Gonadal dysgenesis &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
|&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Child'''&lt;br /&gt;
| &lt;br /&gt;
*Short stature with low growth velocity &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Cubitus valgus''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Nail [[#Glossary | '''hypoplasia''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Hyperconvex uplifted nails &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Multiple pigmented benign birthmarks/moles &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Characteristic faecies &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Short fourth metacarpal &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*High arched palate &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Extensive and chronic inflammation/infection of the ear &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Hearing loss &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 4 year old child.jpg|left|thumb|150px|Figure 5: Four-year-old girl with Turner's syndrome. Note somewhat broad chest, prominent ears and ptosis, but otherwise normal proportion. There is no pronounced neck webbing or edema.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Adolescent/Adult'''&lt;br /&gt;
|&lt;br /&gt;
*Absence of breast development by 13 yr of age &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Pubertal arrest &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Primary or secondary amenorrhoea&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Unexplained short stature &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*Renal abnormalities &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Immune disorders &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 35 year old woman.jpg|none|thumb|150px|Figure 6: A Thirtyfive-year-old woman with Turner's syndrome. Note increased carrying angle of arms, broad flat chest and sexual infantilism, but the lack of pronounced neck webbing or peripheral edema.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Since an absence of the physical signs of puberty and/or growth failure are often seen as normal variations in the population, these possible indications/symptoms of Turner syndrome may not be further investigated by many clinicians.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20361125&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; When karyotyping in order to exclude natural cell variation, a sufficient number of cells should be assessed. Whilst a sample of blood will often reveal Turner syndrome, an evaluation of a second tissue sample like the skin is recommend.&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
[[#Glossary | '''DNA hybridisation''']] or [[#Glossary | '''fluorescent in situ hybridisation''']] should be conducted using a Y centromeric or short arm probe to detect for any additional Y or X chromosomal material.&lt;br /&gt;
If there is any of the Y chromosome present, this may initiate [[#Glossary | '''gonadoblastoma''']] development, another primary indicator of Turner syndrome. Hence the individual should have both a vaginal [[#Glossary | '''ultrasonograph''']] and colour [[#Glossary | '''Doppler sonograph''']] of their gonads to detect whether any Y chromosome fragments are present. These tests should be repeated regularly to monitor the patient for any malignancy, if a gonadectomy is not undertaken.&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== Treatment ==&lt;br /&gt;
&lt;br /&gt;
=== Cardiac Treatment ===&lt;br /&gt;
&lt;br /&gt;
When patients are confirmed with Turner Syndrome, it is necessary to have a full cardiac evaulation including a physical exam and a echocardiogram. If cardiac abnormalities are found, monitoring by a cardiologist is recommended including regular blood pressure checks&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  Coarctation of the aorta and hypoplastic left heart are quite often very serious issues are need to be dealt with surgically&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
If no abnormalities are found, blood pressure in Turner Syndrome patients is still routinely checked and a follow up cardiac evaulation is recommended for girls around the age of puberty (12-15)&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Speech ===&lt;br /&gt;
&lt;br /&gt;
Many Turner Syndrome patients have trouble with their speech. It is necessary for them to be refered to an Ear, Nose and Throat specialist and to a speech therapist to work on improve any speech problems&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Management of Puberty and Growth ===&lt;br /&gt;
The main treatment for growth and pubertal development is Hormone Replacement Therapy. Growth Hormone is adminstered to girls with abnormal growth, resulting in postive growth that is consistent with the expected height of the patient. It is adminstered as early as 2 years of age, but more often in the age group of 9-12 which is in line with the growth spurt that occurs during puberty&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Natural estrogen and progesterone are administered to girls when they reach the age of puberty in early adolescence. The age at which this treatment commences varies between individuals, as does the dosage. The adminsteration of estrogen will begin the process of puberty in girls affected by Turner Syndrome and it is important that this begins around the same time as her peers&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. The use of estrogen is often held off if the patient is also undergoing GH treatment so that maximum growth can be achieved, as estrogen will induce the fusion of the epiphyses and limit longitudinal bone growth&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Around 10% of nonmosaic and 20% of mosaic women with Turner’s will have spontaneous menses (periods) and may not need to undergo Hormone Replacement to initiate puberty. Around 2-5% of these women will have the potential to fall pregnant naturally&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
=== Appearance ===&lt;br /&gt;
&lt;br /&gt;
Extreme neck webbing maybe worrying or uncomfortable to women with Turner’s and in some cases plastic surgery is undertaken to fix this problem. Also if convex gorwth of toenails occurs, surgery is conducted so that the woman can wear normal shoes&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Ongoing Adult Treatment ===&lt;br /&gt;
&lt;br /&gt;
Closely monitoring the health of Turner Syndrome adults is vital in the reduction of morbidity and mortality. An annual physical evalution should be undertaken which includes, blood pressure, heart auscultation, thyroid function, breast exam, and pap smear&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  &lt;br /&gt;
&lt;br /&gt;
Particular attention needs to be taken in the area of weight and obesity in Turner Syndrome women due to their high risk of developing diabetes, osteoporosis and hypertension. Patients are to be encouraged to have a healthy lifestyle including healthy eating and exercise&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Research ==&lt;br /&gt;
&lt;br /&gt;
===Current research===&lt;br /&gt;
&lt;br /&gt;
Since there is no preventative or cure, currently mainly research is being conducted into the areas of symptoms, possible treatments and risks involved with Turner syndrome.&lt;br /&gt;
&lt;br /&gt;
'''Growth hormone therapy in Turner syndrome: its affect on height, weight and stature.'''&lt;br /&gt;
*'''Growth hormone effect on body composition in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21720878&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research findings from this paper conclude that people with Turner syndrome have lower height, higher BMI and higher proportional sitting height and leg length than that of the normal population, no matter whether they undergo hormone replacement therapy or not.&lt;br /&gt;
*'''Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21619701&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study has concluded that all adults with Turner syndrome had a similar quality of life regardless of whether they have a higher stature due to undergoing growth hormone replacement therapy or not. It was hypothesised that height differences did not affect quality of life as the individuals seemed to adapt to their own life challenges.&lt;br /&gt;
*'''Growth hormone treatment for Turner syndrome in Australia reveals that younger age and increased dose interact to improve response.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21375553&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research from this study found that growth hormone therapy works most optimally if given earlier in life and at a high dose in the first year of treatment.&lt;br /&gt;
*'''Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21398400&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: Another study which confers that the early introduction of growth hormone therapy is most efficacious. However the individual's glucose metabolism should be monitored as the hormones may affect glucose tolerance transiently.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Oestrogen hormone replacement therapy in Turner syndrome: the adequate dosage and its effect on uterine development, breast development, bone mineral density and sexual characteristics.'''&lt;br /&gt;
*'''Growth hormone plus childhood low-dose estrogen in Turner's syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21449786&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study indicates that undergoing both growth hormone and oestrogen therapy together may help increase the efficacy of each (increasing growth in height and pubertal development) more than when they act alone. &lt;br /&gt;
*'''Estrogen requirements in girls with Turner syndrome; how low is enough for initiating puberty and uterine development?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21793702&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study assessed the minimal dosage of estrogen that is required to bring about desired pubertal development in girls with Turner syndrome.&lt;br /&gt;
*'''Puberty induction in Turner syndrome: results of oestrogen treatment on development of secondary sexual characteristics, uterine dimensions and serum hormone levels.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19200215&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: It was found that uterus of women with Turner syndrome who had undergone oestrogen was underdeveloped, however the exact cause of this needs to be further researched.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Pregnancy and Turner syndrome: evaluation and treatment of risks involved with pregnancy for: the mothers of Turner syndrome babies, for individuals with Turner syndrome and for the babies of individuals with Turner syndrome.'''&lt;br /&gt;
*'''Familial occurrence of Turner syndrome: casual event or increased risk?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21648298&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research examined whether there is a higher probability of having a second child with Turner syndrome and concluded that there is evidence in the small cohort that they used of a greater probability. It is suggested that a larger study be conducted to look further into these findings.that &lt;br /&gt;
*'''Obstetric Outcomes in Women with Turner Karyotype.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21865365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: In this study it was found that women with Turner syndrome had shorter pregnancies than that of a control group, but no other marked difference was observed between the groups.&lt;br /&gt;
*'''Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21496813&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This paper examined a number of pregnant women with Turner syndrome, some who incidentally went through puberty even though they had no hormone replacement therapy and another group that had undertaken hormone replacement therapy. Though there were not many complications in either group, the groups were small in number and one mother did have cardiovascular difficulties later on in life. Hence a thorough examination of pregnant Turner syndrome women should be conducted prior to conception.&lt;br /&gt;
*'''Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20923275&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This article assessed the prognosis of pregnant women with Turner syndrome. They concluded that spontaneous pregnancy increases the risk of the baby having phenotypic and chromosomal abnormalities compared with women having assisted reproductive therapies.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Future research=== &lt;br /&gt;
&lt;br /&gt;
Future research needs to be conducted in the following areas: to follow up on the suggestions given in the conclusions of current research papers as outlined in the prior section and also into how the care system is functioning for Turner syndrome individuals as outlined below.&lt;br /&gt;
&lt;br /&gt;
*'''Medical Care of Girls with Turner Syndrome: Where are we Lacking?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21454226&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research found that a large proportion (&amp;gt;50%) of people with Turner syndrome are not given adequate information upon diagnosis or screenings for complications and symptoms. Therefore it is suggested in order to rectify this issue that more education should be given to physicians on the syndrome&lt;br /&gt;
*'''Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21752892&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; and '''Turner's syndrome requires multidisciplinary approach.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19514616&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: These article evaluate the need for a multidisciplinary approach to treatment of Turner syndrome. Since the symptoms can be wide ranging and severe, it is difficult but necessary for all of them to be examined in each individual. Hence a greater care plan for individuals should be implemented upon diagnosis.&lt;br /&gt;
&lt;br /&gt;
== Glossary ==&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Alpha-fetoprotein''' is a protein with an unknown function. It makes up, up to one third of the protein serum levels found in the second trimester of pregnancy and in neural tube defects, these alpha-fetoprotein levels are elevated. &amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Amniocentesis''' is a prenatal diagnostic tool. The procedure involves the sampling of amniotic fluid from the amniotic sac using a syringe, that is then tested for a number of abnormalities. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Brachycephaly''' is a condition where the coronal suture of the skull fuses prematurely. Since the skull is unable to expand any further in the anterior-posterior directions due to this closure, it grows to an abnormal size in in the lateral dimension.&amp;lt;ref&amp;gt;Flint, P 2010, ''Flint: Cummings Otolaryngology: Head &amp;amp; Neck Surgery, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-323-05283-2..00186-5--s0045&amp;amp;isbn=978-0-323-05283-2&amp;amp;uniqId=282726024-5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Coarctation''' of the aorta is an abnormality where the aorta is constricted at one or various sections. This can be caused by genetic and/or environmental factors.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Chorionic villous sampling''' is a prenatal diagnostic tool which can be used from 7 weeks after fertilisation. It is used to test for a number of chromosomal abnormalities including X-linked and metabolic disorders.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Cystic hygroma''' is a prenatal abnormality where fluid builds up in the posterior portion of the neck. The body may or may not relieve itself naturally of this accumulation of fluid after birth. &amp;lt;ref&amp;gt;Gabbe, S 2007, ''Gabbe: Obstetrics: Normal and Problem Pregnancies, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-443-06930-7..50011-6--cesec51&amp;amp;isbn=978-0-443-06930-7&amp;amp;uniqId=282726024-10&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''DNA-DNA hybridisation''' is a technique used to compare the similarities and differences between two sets of genes.&amp;lt;ref&amp;gt;Long, S 2009, ''Bradley: Neurology in Clinical Practice, 5th ed.Long: Principles and Practice of Pediatric Infectious Diseases Revised Reprint, 3rd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X&amp;amp;isbn=978-0-7020-3468-8&amp;amp;uniqId=282726024-19#4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Doppler sonography''' uses the doppler effect to help image and measure blood flow pattern in the patient.&amp;lt;ref&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Estriol''' is a hormone that is produced in greater amounts during pregnancy especially in the second and third trimester. One of its main functions is to assist with blood flow in the placenta and uterus.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Gametes''' are reproductive (sex) cells (ie: eggs and sperm) that can unite to form a new cell called a zygote. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6&amp;amp;isbn=978-0-443-06811-9&amp;amp;uniqId=283289096-4#4-u1.0-B978-0-443-06811-9..10001-6--b0020&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Gonadoblastoma''' is an abnormal proliferation of gonadal cells, that may or may not be malignant.&amp;lt;ref&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Haploid''' is the status of a cell having only a single set of unpaired chromosomes, or half the number of chromosomes contained in typical body cells. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10019-3--sec5&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208594256&amp;amp;uniqId=283289096-7#4-u1.0-B978-0-443-06811-9..10019-3--sec5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''hCG''' is the abbreviation for human chorionic gonadotropin. It is a hormone that functions in the early stage of pregnancy to maintain the blood supply to the corpus luteum.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Homologous chromosomes''' are pairs of chromosomes, one each obtained from maternal and paternal gametes.  46 total chromosome complements are within an organism, 22 pairs of which are homologous chromosomes (called autosomes); the other 2 chromosomes are the sex chromosomes. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6--sec7&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208599219&amp;amp;uniqId=283289096-10#4-u1.0-B978-0-443-06811-9..10001-6--sec9&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
'''Hypoplasia''' is when an organ or tissue is not completely developed.&amp;lt;ref&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Inhibin A''' is a peptide produced by the ovaries and acts to restrain the production of follicle-stimulating hormone.&amp;lt;ref&amp;gt;Melmed, S 2011, ''Melmed: Williams Textbook of Endocrinology, 12th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0324-5..00045-6&amp;amp;isbn=978-1-4377-0324-5&amp;amp;uniqId=282726024-25 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Karyotype''' is an individual's set of chromosomes, both their number and appearance.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Meiosis''' is the specific process of cell division within sex cells which halves the number of chromosomes in the cells through via two cell divisions; this is specific to germ cells only, creating haploid gametes (sex cells) from diploid cells. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
'''Monosomy''' is a condition wherein a specific chromosome is completely missing within one gamete that combines with a normal gamete to form a zygote; a chromosome has no homologue, or matching chromosome, to pair with. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6--sec15&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208595822&amp;amp;uniqId=283289096-8#4-u1.0-B978-0-443-06811-9..10001-6--sec41&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Mosaicism''' is when a particular type or all cells of an individual do not have the same genetic makeup. This is caused by a mutation during embryonic cell division.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Nondisjunction''' is the failure of chromosome pairs to separate entirely during either stage of Meiosis. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec27&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--spara33&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Oligohydramnios''' is a prenatal condition, where there is an insufficient amount of amniotic fluid.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Polyhydramnios''' is a prenatal condition, where there is an excessive amount of amniotic fluid.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Random assortment'''&lt;br /&gt;
&lt;br /&gt;
'''Recombination''' is the process which by genetic material is crossed over and switched between two segments of DNA which adds to the genetic diversity of the genome.&lt;br /&gt;
&lt;br /&gt;
'''SHOX gene''' is the short stature homeobox gene, that when deficient frequently results in short stature.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Sister chromatids'''&lt;br /&gt;
&lt;br /&gt;
'''Ultrasonography''' is a medical technique that employs ultrasound frequencies to visualise a patient's internal bodily structure.&amp;lt;ref&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== References ==&lt;br /&gt;
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{{2011Projects}}&lt;/div&gt;</summary>
		<author><name>Z3217043</name></author>
	</entry>
	<entry>
		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=73773</id>
		<title>2011 Group Project 1</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=73773"/>
		<updated>2011-09-30T11:28:12Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: /* Prenatal Diagnosis */&lt;/p&gt;
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== Turner Syndrome ==&lt;br /&gt;
&lt;br /&gt;
--[[User:S8600021|Mark Hill]] 10:44, 8 September 2011 (EST) Some of the existing sub-sections have appropriate content, but there are also empty sub-sections, a total lack of referencing/citation and no glossary. &lt;br /&gt;
* The referencing issue needs urgent  progress.&lt;br /&gt;
* Existing figures/table are appropriate. Table appears to be directly used from an uncited source.&lt;br /&gt;
* There needs to be more images in this work.&lt;br /&gt;
* Where is the student drawn figure?&lt;br /&gt;
* Read http://embryology.med.unsw.edu.au/embryology/index.php?title=Help:Reference_Tutorial#Multiple%20Instances%20on%20Page&lt;br /&gt;
&lt;br /&gt;
== Introduction ==&lt;br /&gt;
&lt;br /&gt;
Turner syndrome, named after Henry Hubert Turner who first described the syndrome in his paper in 1938,&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;4557013&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; is one of the most commonly occuring chromosomal disorders. It is caused by complete or partial X monosomy in some or all cells and occurs in approximately 1 in 2000 live female births, however the morbidity rate of spontaneous abortions is 10% and only about 1% of fetuses survive to term. &lt;br /&gt;
&lt;br /&gt;
During normal fetal development, each ovary contain as many as 7 million oocytes. The oocytes gradually reduced to 400,000 during menarche and during menopause fewer than 10,000 remains. However, in Turner syndrome, the ovaries develop normally during embryogenesis but the absence of the second X chromosome leads to an accelerated loss of oocytes, which is complete by the time the infant, is aged 2. Genetically menopause occurs before menarche and the ovaries are reduced to atrophic fibrous strands, devoid of ova and follicles (streak ovaries). Development of somatic (nongonadal) tissues that reside on the missing/abnormal X chromosome are also severely affected. For example short stature is caused by a deletion of the Xp chromosome and the deletion of Xq causes gonadal dysfunction &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt; 6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
 &lt;br /&gt;
The most frequent clinical feature is short stature and gonadal dysgenesis. Other features may include coarctation of the aorta, renal anomalies, neck webbing, and lymphoedema. The affected organ systems and tissues may are effected to a lesser or greater extent amongst that are affected by turner syndrome. Each person who has turner syndrome all vary in their clinical phenotype. In recent years there has been increased interest in Turner Syndrome due to the introduction of growth hormone treatment. There has been marked improvement in the understanding of this condition as advances in molecular genetic techniques occur. However, there still further research to be completed. A multidisciplinary approach to treatment is important to improve the quality of life of girls with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
 &lt;br /&gt;
[[File:Karyotype.jpg|200px|thumb|left|The arrow indicates the presence of only one X chromosome in Karyotype]]&lt;br /&gt;
&lt;br /&gt;
== Epidemiology ==&lt;br /&gt;
&lt;br /&gt;
Turner Syndrome affects about 1 in 2000 live-born females. There are three types of karyotypic abnormalities but the most frequently seen is where the entire X chromosome is missing resulting in 45 X karyotype. The remaining third have structural abnormalities of the X chromosomes, and two thirds are mosaics. Whereby, the maternal X is retained in two-thirds of women and the paternal X in the remainder.&lt;br /&gt;
The phenotype of Turner Syndrome is varies but it involves anomalies of the sex chromosome. It could be caused by the limited amount of genetic material in these abnormal chromosomes. Turner Syndrome can be transmitted from mother to daughter, and thus can it could be described as a heredity linked syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The loss of one of the sex chromosomes of turner syndrome occurs after the zygote has formed or just after the fusion of the gametes. In 70-80% of cases the retained X is from the mother. In such circumstances has lead to the different phenotypic expression of the genes present on the X chromosome depending upon if it came from the mother or father. &lt;br /&gt;
The morphological differences from those retaining the maternal compared to retaining the paternal X is have shown to have a greater incidence of cardiovascular anomalies and neck webbing. &lt;br /&gt;
The missing sex chromosome could be either an X or a Y. This has clinical implications because if the Y material is present there is a risk of up to 30% of gonadoblastoma developing in the dysgenetic gonads. This is because the 'gonadoblastoma locus' is on the Y chromosome which is believed to be situated on the long arm of the Y just below the centromere.&lt;br /&gt;
Another factor affecting the phenotype in Turner syndrome is the inactivation of the abnormal X chromosomes. In a normal fetus there should be only one X chromosome that is active in each cell &amp;lt;ref&amp;gt;Wade, Nicholas (2009-09-15). '''&amp;quot;New Clues to Sex Anomalies in How Y Chromosomes Are Copied&amp;quot;'''. The New York Times. Retrieved 2010-05-26. http://www.nytimes.com/2009/09/15/science/15chrom.html?pagewanted=1&amp;amp;_r=1&amp;amp;hpw&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
[[File:Stats abnormal.jpg]]  &lt;br /&gt;
&lt;br /&gt;
Abnormalities associated with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Etiology ==&lt;br /&gt;
[[File:nondisjunction.jpg|850px|thumb|right|alt text|This figure shows the progeny created from normal disjunction (A), and non-disjunction during both Meiosis I (B) and Meiosis II (C).]]&lt;br /&gt;
&lt;br /&gt;
Causation of Turner Syndrome (TS) can be traced back to the stages of sex-cell development.  When sex cells divide through a process called [[#Glossary | '''meiosis''']] to create [[#Glossary | '''gametes''']], either a [[#Glossary | '''haploid''']] egg (for females) or sperm (for males) two divisions occur, Meiosis I and Meiosis II.  Meiosis is the main process which helps create the vast genetic diversity within all populations by allowing [[#Glossary | '''recombination''']] and [[#Glossary | '''random assortment''']].  During Meiosis I [[#Glossary | '''homologous chromosomes''']] are separated; following Meiosis I, [[#Glossary | '''sister chromatids''']] separate during Meiosis II.  If during either stage of Meiosis I or II the homologous chromosomes or sister chromatids, respectively, do not fully separate, a phenomenon can occur called [[#Glossary | '''nondisjunction''']].  Nondisjunction causes an uneven distribution of genetic material to each daughter nuclei.  When an uneven distribution is such that one of the gametes does not have any of a chromosome, it can combine with another normal gamete to create a fertilized egg with only one chromosome as opposed to the normal two that are found in human cells; this is called a [[#Glossary | '''monosomy''']].  When this occurs in the sex chromosomes leaving only a single X chromosome (X0 genotype) Turner Syndrome is created, leaving only 45 chromosomes in the zygote rather than the normal 46.  &lt;br /&gt;
&lt;br /&gt;
[[File:22+23=45.jpg|350px|thumb|left|22 chromosomal egg + 23 chromosomal sperm = 45 chromsomes in zygote instead of normal 46.]]&lt;br /&gt;
Turner Syndrome can also be created by partial monosomy or disjunctions, meaning that although a whole X chromosome is not missing, portions of it are not present or are non-functional, rendering the chromosome useless.  Any disjunction seems to be completely sporadic and have yet to be attributed to any genetic link. The only thing known for sure is that during conception a portion of or the whole second sex chromosome is not conveyed to the zygote.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;7763055&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; Because at least one X chromosome is necessary for vital functions, this condition can only be found in females.&lt;br /&gt;
&lt;br /&gt;
== Clinical Manifestations ==&lt;br /&gt;
&lt;br /&gt;
The following are a list of characteristics and diseases which tend to accompany, be caused by, or be related to Turner Syndrome.  &lt;br /&gt;
&lt;br /&gt;
===Physical Attributes:===&lt;br /&gt;
*congenital malformations (heart, urinary system, face, neck, ears) &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*gonadal dysgenesis (causes estrogen deficiencies, which can cause infertility) &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*increased risk of fractures &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16624607&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low cortical bone mineral density (BMD) &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;/&amp;gt;&lt;br /&gt;
*middle ear infections &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*premature ovarian failure &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*short/reduced stature &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*webbed neck &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;17562588&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Decreased Cognition:===&lt;br /&gt;
*emotion processing difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;20014362&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*increased impulsivity &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;19750135&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low IQ score &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
*nonverbal learning disability (slow math calculations)&amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*social cognition difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*visuoperception/visuoconstruction deficit (identifying and locating is difficult due to poor visual working memory) &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Increased Risk of:===&lt;br /&gt;
*cirrhosis of the liver &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*colon and rectal cancers &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*hypothyroidism &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*inflammatory bowel disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
*morbidity and mortality &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*neurovascular disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*osteoporosis &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*ovarian failure &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*renal and gastrointestinal disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Prone to Develop Autoimmune Conditions:=== &lt;br /&gt;
*alopecia areata &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coeliac disease (CD) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12466343&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*psoriasis &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;/&amp;gt;&lt;br /&gt;
*thyroiditis &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*type 1 diabetes &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Cardiac Abnormalities:===&lt;br /&gt;
(most serious/life threatening medical problems created by Turner Syndrome)&lt;br /&gt;
*absence of portal vein &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16612647&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*aortic dilatation and dissection  &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*arrhythmias &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;17015510&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*arteriosclerosis &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*biscuspid aortic valves &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*coarctation of the aorta &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*hypertension &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*ischemic heart disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*mitral valve prolapsed &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== Diagnostic Procedures ==&lt;br /&gt;
&lt;br /&gt;
===Diagnostic Definition===&lt;br /&gt;
&lt;br /&gt;
[[File:Turner Syndrome X Chromosome Variations.jpg|thumb|right|Variations of the Second X Chromosome in Turner Syndrome]]&lt;br /&gt;
Turner syndrome is diagnosed through both an evaluation of physical features and by analysis of the second sex chromosome. The two criteria must be met for classification of Turner syndrome, an abnormality in the second sex chromosome must be found and the abnormality must be found to be expressed somehow in the individual's traits. Hence if physical characteristics are not present even when the cytogenetic criterion is met the patient is not diagnosed as having Turner syndrome.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; In Turner syndrome the second sex chromosome is either:&lt;br /&gt;
&lt;br /&gt;
*Completely absent (45,X)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Partially absent&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
*Forms an isochromosome (isoXq), possessing a long arm duplication (q) and being devoid of a short arm (p)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*In a ring formation (rX)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
*Is devoid of the homeobox gene, [[#Glossary | '''SHOX''']] (short stature homeobox), the deletion being prior to the junction between Xp22.2 and Xp22.3&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
Any of these variations of the second sex chromosome may occur with or without cell line [[#Glossary | '''mosaicism''']].&lt;br /&gt;
Turner syndrome may be diagnosed prenatally or postnatally, using this genetic diagnostic definition coupled with an appropriate phenotypic evaluation of the individual, as outlined below.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Prenatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
The prenatal diagnostic tool for Turner syndrome is karyotype screening and testing for phenotype abnormalities. If Turner syndrome is diagnosed prenatally, karyotype screening and an evaluation of the individual's traits should be conducted again postnatally for confirmation of this diagnosis. Turner syndrome is frequently diagnosed after karyotype screening during [[#Glossary | '''chorionic villous sampling''']] or [[#Glossary | '''amniocentesis''']].&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
The table below outlines various prenatal tests conducted and the indications that may be present in babies with Turner syndrome. Although these techniques and the indications they reveal may highlight Turner syndrome signs, they should not be used as sole diagnostic tools.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Technique'''&lt;br /&gt;
| '''Turner syndrome indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Ultrasound'''&lt;br /&gt;
|&lt;br /&gt;
*Increased nuchal translucency &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Cystic hygroma''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Coarctation''']] of the aorta &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Left-sided cardiac defects &amp;lt;ref name=&amp;quot;PMID21527014&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Brachycephaly''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Renal anomalies &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Polyhydramnios''']] &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Oligohydramnios''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Growth retardation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;10599686&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Turner Syndrome Test Showing Nuchal Translucency.gif|none|thumb|400px|Figure 2: Ultrasound Test Showing Nuchal Translucency.]]&lt;br /&gt;
[[File:Turner Syndrome Test Showing Cystic Hygroma.gif|none|thumb|400px|Figure 3: Ultrasound Test Showing Cystic Hygroma.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Maternal serum screening'''&lt;br /&gt;
|&lt;br /&gt;
*Abnormal [[#Glossary | '''α-fetoprotein''']] levels &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary | '''inhibin A''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary | '''hCG''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal unconjugated [[#Glossary | '''estriol''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
|[[File: TurnerSyndromeMaternalSerumSampling.jpg|none|thumb|400px|Figure 4: Maternal Serum Sampling.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
===Postnatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
In postnatal diagnosis, [[#Glossary | '''karyotype''']] investigation is undertaken for the individual. When a female presents with the following clinical findings, explained in table below, it is recommended that chromosomal analysis is undertaken, so that Turner syndrome may be eliminated&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;:&lt;br /&gt;
{|sstyle= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Age'''&lt;br /&gt;
| '''Phenotypic manifestations/indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Baby/infant'''&lt;br /&gt;
|&lt;br /&gt;
*Oedema of the hands or feet&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Nuchal folds &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Cardiac abnormalities for example aortic dilation, bicuspid aortic valve and aortic coarctation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Low hairline &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Low set ears &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Small mandible &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Gonadal dysgenesis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Child'''&lt;br /&gt;
| &lt;br /&gt;
*Short stature with low growth velocity &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Cubitus valgus''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Nail [[#Glossary | '''hypoplasia''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Hyperconvex uplifted nails &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Multiple pigmented benign birthmarks/moles &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Characteristic faecies &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Short fourth metacarpal &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*High arched palate &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Extensive and chronic inflammation/infection of the ear &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Hearing loss &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 4 year old child.jpg|left|thumb|150px|Figure 5: Four-year-old girl with Turner's syndrome. Note somewhat broad chest, prominent ears and ptosis, but otherwise normal proportion. There is no pronounced neck webbing or edema.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Adolescent/Adult'''&lt;br /&gt;
|&lt;br /&gt;
*Absence of breast development by 13 yr of age &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Pubertal arrest &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Primary or secondary amenorrhoea&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Unexplained short stature &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Renal abnormalities &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Immune disorders &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 35 year old woman.jpg|none|thumb|150px|Figure 6: A Thirtyfive-year-old woman with Turner's syndrome. Note increased carrying angle of arms, broad flat chest and sexual infantilism, but the lack of pronounced neck webbing or peripheral edema.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Since an absence of the physical signs of puberty and/or growth failure are often seen as normal variations in the population, these possible indications/symptoms of Turner syndrome may not be further investigated by many clinicians.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20361125&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; When karyotyping in order to exclude natural cell variation, a sufficient number of cells should be assessed. Whilst a sample of blood will often reveal Turner syndrome, an evaluation of a second tissue sample like the skin is recommend.&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
[[#Glossary | '''DNA hybridisation''']] or [[#Glossary | '''fluorescent in situ hybridisation''']] should be conducted using a Y centromeric or short arm probe to detect for any additional Y or X chromosomal material.&lt;br /&gt;
If there is any of the Y chromosome present, this may initiate [[#Glossary | '''gonadoblastoma''']] development, another primary indicator of Turner syndrome. Hence the individual should have both a vaginal [[#Glossary | '''ultrasonograph''']] and colour [[#Glossary | '''Doppler sonograph''']] of their gonads to detect whether any Y chromosome fragments are present. These tests should be repeated regularly to monitor the patient for any malignancy, if a gonadectomy is not undertaken.&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== Treatment ==&lt;br /&gt;
&lt;br /&gt;
=== Cardiac Treatment ===&lt;br /&gt;
&lt;br /&gt;
When patients are confirmed with Turner Syndrome, it is necessary to have a full cardiac evaulation including a physical exam and a echocardiogram. If cardiac abnormalities are found, monitoring by a cardiologist is recommended including regular blood pressure checks&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  Coarctation of the aorta and hypoplastic left heart are quite often very serious issues are need to be dealt with surgically&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
If no abnormalities are found, blood pressure in Turner Syndrome patients is still routinely checked and a follow up cardiac evaulation is recommended for girls around the age of puberty (12-15)&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Speech ===&lt;br /&gt;
&lt;br /&gt;
Many Turner Syndrome patients have trouble with their speech. It is necessary for them to be refered to an Ear, Nose and Throat specialist and to a speech therapist to work on improve any speech problems&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Management of Puberty and Growth ===&lt;br /&gt;
The main treatment for growth and pubertal development is Hormone Replacement Therapy. Growth Hormone is adminstered to girls with abnormal growth, resulting in postive growth that is consistent with the expected height of the patient. It is adminstered as early as 2 years of age, but more often in the age group of 9-12 which is in line with the growth spurt that occurs during puberty&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Natural estrogen and progesterone are administered to girls when they reach the age of puberty in early adolescence. The age at which this treatment commences varies between individuals, as does the dosage. The adminsteration of estrogen will begin the process of puberty in girls affected by Turner Syndrome and it is important that this begins around the same time as her peers&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. The use of estrogen is often held off if the patient is also undergoing GH treatment so that maximum growth can be achieved, as estrogen will induce the fusion of the epiphyses and limit longitudinal bone growth&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Around 10% of nonmosaic and 20% of mosaic women with Turner’s will have spontaneous menses (periods) and may not need to undergo Hormone Replacement to initiate puberty. Around 2-5% of these women will have the potential to fall pregnant naturally&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
=== Appearance ===&lt;br /&gt;
&lt;br /&gt;
Extreme neck webbing maybe worrying or uncomfortable to women with Turner’s and in some cases plastic surgery is undertaken to fix this problem. Also if convex gorwth of toenails occurs, surgery is conducted so that the woman can wear normal shoes&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Ongoing Adult Treatment ===&lt;br /&gt;
&lt;br /&gt;
Closely monitoring the health of Turner Syndrome adults is vital in the reduction of morbidity and mortality. An annual physical evalution should be undertaken which includes, blood pressure, heart auscultation, thyroid function, breast exam, and pap smear&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  &lt;br /&gt;
&lt;br /&gt;
Particular attention needs to be taken in the area of weight and obesity in Turner Syndrome women due to their high risk of developing diabetes, osteoporosis and hypertension. Patients are to be encouraged to have a healthy lifestyle including healthy eating and exercise&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Research ==&lt;br /&gt;
&lt;br /&gt;
===Current research===&lt;br /&gt;
&lt;br /&gt;
Since there is no preventative or cure, currently mainly research is being conducted into the areas of symptoms, possible treatments and risks involved with Turner syndrome.&lt;br /&gt;
&lt;br /&gt;
'''Growth hormone therapy in Turner syndrome: its affect on height, weight and stature.'''&lt;br /&gt;
*'''Growth hormone effect on body composition in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21720878&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research findings from this paper conclude that people with Turner syndrome have lower height, higher BMI and higher proportional sitting height and leg length than that of the normal population, no matter whether they undergo hormone replacement therapy or not.&lt;br /&gt;
*'''Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21619701&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study has concluded that all adults with Turner syndrome had a similar quality of life regardless of whether they have a higher stature due to undergoing growth hormone replacement therapy or not. It was hypothesised that height differences did not affect quality of life as the individuals seemed to adapt to their own life challenges.&lt;br /&gt;
*'''Growth hormone treatment for Turner syndrome in Australia reveals that younger age and increased dose interact to improve response.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21375553&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research from this study found that growth hormone therapy works most optimally if given earlier in life and at a high dose in the first year of treatment.&lt;br /&gt;
*'''Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21398400&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: Another study which confers that the early introduction of growth hormone therapy is most efficacious. However the individual's glucose metabolism should be monitored as the hormones may affect glucose tolerance transiently.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Oestrogen hormone replacement therapy in Turner syndrome: the adequate dosage and its effect on uterine development, breast development, bone mineral density and sexual characteristics.'''&lt;br /&gt;
*'''Growth hormone plus childhood low-dose estrogen in Turner's syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21449786&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study indicates that undergoing both growth hormone and oestrogen therapy together may help increase the efficacy of each (increasing growth in height and pubertal development) more than when they act alone. &lt;br /&gt;
*'''Estrogen requirements in girls with Turner syndrome; how low is enough for initiating puberty and uterine development?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21793702&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study assessed the minimal dosage of estrogen that is required to bring about desired pubertal development in girls with Turner syndrome.&lt;br /&gt;
*'''Puberty induction in Turner syndrome: results of oestrogen treatment on development of secondary sexual characteristics, uterine dimensions and serum hormone levels.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19200215&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: It was found that uterus of women with Turner syndrome who had undergone oestrogen was underdeveloped, however the exact cause of this needs to be further researched.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Pregnancy and Turner syndrome: evaluation and treatment of risks involved with pregnancy for: the mothers of Turner syndrome babies, for individuals with Turner syndrome and for the babies of individuals with Turner syndrome.'''&lt;br /&gt;
*'''Familial occurrence of Turner syndrome: casual event or increased risk?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21648298&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research examined whether there is a higher probability of having a second child with Turner syndrome and concluded that there is evidence in the small cohort that they used of a greater probability. It is suggested that a larger study be conducted to look further into these findings.that &lt;br /&gt;
*'''Obstetric Outcomes in Women with Turner Karyotype.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21865365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: In this study it was found that women with Turner syndrome had shorter pregnancies than that of a control group, but no other marked difference was observed between the groups.&lt;br /&gt;
*'''Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21496813&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This paper examined a number of pregnant women with Turner syndrome, some who incidentally went through puberty even though they had no hormone replacement therapy and another group that had undertaken hormone replacement therapy. Though there were not many complications in either group, the groups were small in number and one mother did have cardiovascular difficulties later on in life. Hence a thorough examination of pregnant Turner syndrome women should be conducted prior to conception.&lt;br /&gt;
*'''Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20923275&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This article assessed the prognosis of pregnant women with Turner syndrome. They concluded that spontaneous pregnancy increases the risk of the baby having phenotypic and chromosomal abnormalities compared with women having assisted reproductive therapies.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Future research=== &lt;br /&gt;
&lt;br /&gt;
Future research needs to be conducted in the following areas: to follow up on the suggestions given in the conclusions of current research papers as outlined in the prior section and also into how the care system is functioning for Turner syndrome individuals as outlined below.&lt;br /&gt;
&lt;br /&gt;
*'''Medical Care of Girls with Turner Syndrome: Where are we Lacking?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21454226&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research found that a large proportion (&amp;gt;50%) of people with Turner syndrome are not given adequate information upon diagnosis or screenings for complications and symptoms. Therefore it is suggested in order to rectify this issue that more education should be given to physicians on the syndrome&lt;br /&gt;
*'''Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21752892&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; and '''Turner's syndrome requires multidisciplinary approach.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19514616&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: These article evaluate the need for a multidisciplinary approach to treatment of Turner syndrome. Since the symptoms can be wide ranging and severe, it is difficult but necessary for all of them to be examined in each individual. Hence a greater care plan for individuals should be implemented upon diagnosis.&lt;br /&gt;
&lt;br /&gt;
== Glossary ==&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Alpha-fetoprotein''' is a protein with an unknown function. It makes up, up to one third of the protein serum levels found in the second trimester of pregnancy and in neural tube defects, these alpha-fetoprotein levels are elevated. &amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Amniocentesis''' is a prenatal diagnostic tool. The procedure involves the sampling of amniotic fluid from the amniotic sac using a syringe, that is then tested for a number of abnormalities. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Brachycephaly''' is a condition where the coronal suture of the skull fuses prematurely. Since the skull is unable to expand any further in the anterior-posterior directions due to this closure, it grows to an abnormal size in in the lateral dimension.&amp;lt;ref&amp;gt;Flint, P 2010, ''Flint: Cummings Otolaryngology: Head &amp;amp; Neck Surgery, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-323-05283-2..00186-5--s0045&amp;amp;isbn=978-0-323-05283-2&amp;amp;uniqId=282726024-5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Coarctation''' of the aorta is an abnormality where the aorta is constricted at one or various sections. This can be caused by genetic and/or environmental factors.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Chorionic villous sampling''' is a prenatal diagnostic tool which can be used from 7 weeks after fertilisation. It is used to test for a number of chromosomal abnormalities including X-linked and metabolic disorders.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Cystic hygroma''' is a prenatal abnormality where fluid builds up in the posterior portion of the neck. The body may or may not relieve itself naturally of this accumulation of fluid after birth. &amp;lt;ref&amp;gt;Gabbe, S 2007, ''Gabbe: Obstetrics: Normal and Problem Pregnancies, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-443-06930-7..50011-6--cesec51&amp;amp;isbn=978-0-443-06930-7&amp;amp;uniqId=282726024-10&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''DNA-DNA hybridisation''' is a technique used to compare the similarities and differences between two sets of genes.&amp;lt;ref&amp;gt;Long, S 2009, ''Bradley: Neurology in Clinical Practice, 5th ed.Long: Principles and Practice of Pediatric Infectious Diseases Revised Reprint, 3rd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X&amp;amp;isbn=978-0-7020-3468-8&amp;amp;uniqId=282726024-19#4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Doppler sonography''' uses the doppler effect to help image and measure blood flow pattern in the patient.&amp;lt;ref&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Estriol''' is a hormone that is produced in greater amounts during pregnancy especially in the second and third trimester. One of its main functions is to assist with blood flow in the placenta and uterus.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Gametes''' are reproductive (sex) cells (ie: eggs and sperm) that can unite to form a new cell called a zygote. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6&amp;amp;isbn=978-0-443-06811-9&amp;amp;uniqId=283289096-4#4-u1.0-B978-0-443-06811-9..10001-6--b0020&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Gonadoblastoma''' is an abnormal proliferation of gonadal cells, that may or may not be malignant.&amp;lt;ref&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Haploid''' is the status of a cell having only a single set of unpaired chromosomes, or half the number of chromosomes contained in typical body cells. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10019-3--sec5&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208594256&amp;amp;uniqId=283289096-7#4-u1.0-B978-0-443-06811-9..10019-3--sec5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''hCG''' is the abbreviation for human chorionic gonadotropin. It is a hormone that functions in the early stage of pregnancy to maintain the blood supply to the corpus luteum.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Homologous chromosomes''' are pairs of chromosomes, one each obtained from maternal and paternal gametes.  46 total chromosome complements are within an organism, 22 pairs of which are homologous chromosomes (called autosomes); the other 2 chromosomes are the sex chromosomes. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6--sec7&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208599219&amp;amp;uniqId=283289096-10#4-u1.0-B978-0-443-06811-9..10001-6--sec9&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
'''Hypoplasia''' is when an organ or tissue is not completely developed.&amp;lt;ref&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Inhibin A''' is a peptide produced by the ovaries and acts to restrain the production of follicle-stimulating hormone.&amp;lt;ref&amp;gt;Melmed, S 2011, ''Melmed: Williams Textbook of Endocrinology, 12th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0324-5..00045-6&amp;amp;isbn=978-1-4377-0324-5&amp;amp;uniqId=282726024-25 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Karyotype''' is an individual's set of chromosomes, both their number and appearance.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Meiosis''' is the specific process of cell division within sex cells which halves the number of chromosomes in the cells through via two cell divisions; this is specific to germ cells only, creating haploid gametes (sex cells) from diploid cells. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
'''Monosomy''' is a condition wherein a specific chromosome is completely missing within one gamete that combines with a normal gamete to form a zygote; a chromosome has no homologue, or matching chromosome, to pair with. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6--sec15&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208595822&amp;amp;uniqId=283289096-8#4-u1.0-B978-0-443-06811-9..10001-6--sec41&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Mosaicism''' is when a particular type or all cells of an individual do not have the same genetic makeup. This is caused by a mutation during embryonic cell division.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Nondisjunction''' is the failure of chromosome pairs to separate entirely during either stage of Meiosis. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec27&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--spara33&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Oligohydramnios''' is a prenatal condition, where there is an insufficient amount of amniotic fluid.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Polyhydramnios''' is a prenatal condition, where there is an excessive amount of amniotic fluid.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Random assortment'''&lt;br /&gt;
&lt;br /&gt;
'''Recombination''' is the process which by genetic material is crossed over and switched between two segments of DNA which adds to the genetic diversity of the genome.&lt;br /&gt;
&lt;br /&gt;
'''SHOX gene''' is the short stature homeobox gene, that when deficient frequently results in short stature.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Sister chromatids'''&lt;br /&gt;
&lt;br /&gt;
'''Ultrasonography''' is a medical technique that employs ultrasound frequencies to visualise a patient's internal bodily structure.&amp;lt;ref&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== References ==&lt;br /&gt;
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{{2011Projects}}&lt;/div&gt;</summary>
		<author><name>Z3217043</name></author>
	</entry>
	<entry>
		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=73771</id>
		<title>2011 Group Project 1</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=73771"/>
		<updated>2011-09-30T11:23:41Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: /* Postnatal Diagnosis */&lt;/p&gt;
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== Turner Syndrome ==&lt;br /&gt;
&lt;br /&gt;
--[[User:S8600021|Mark Hill]] 10:44, 8 September 2011 (EST) Some of the existing sub-sections have appropriate content, but there are also empty sub-sections, a total lack of referencing/citation and no glossary. &lt;br /&gt;
* The referencing issue needs urgent  progress.&lt;br /&gt;
* Existing figures/table are appropriate. Table appears to be directly used from an uncited source.&lt;br /&gt;
* There needs to be more images in this work.&lt;br /&gt;
* Where is the student drawn figure?&lt;br /&gt;
* Read http://embryology.med.unsw.edu.au/embryology/index.php?title=Help:Reference_Tutorial#Multiple%20Instances%20on%20Page&lt;br /&gt;
&lt;br /&gt;
== Introduction ==&lt;br /&gt;
&lt;br /&gt;
Turner syndrome, named after Henry Hubert Turner who first described the syndrome in his paper in 1938,&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;4557013&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; is one of the most commonly occuring chromosomal disorders. It is caused by complete or partial X monosomy in some or all cells and occurs in approximately 1 in 2000 live female births, however the morbidity rate of spontaneous abortions is 10% and only about 1% of fetuses survive to term. &lt;br /&gt;
&lt;br /&gt;
During normal fetal development, each ovary contain as many as 7 million oocytes. The oocytes gradually reduced to 400,000 during menarche and during menopause fewer than 10,000 remains. However, in Turner syndrome, the ovaries develop normally during embryogenesis but the absence of the second X chromosome leads to an accelerated loss of oocytes, which is complete by the time the infant, is aged 2. Genetically menopause occurs before menarche and the ovaries are reduced to atrophic fibrous strands, devoid of ova and follicles (streak ovaries). Development of somatic (nongonadal) tissues that reside on the missing/abnormal X chromosome are also severely affected. For example short stature is caused by a deletion of the Xp chromosome and the deletion of Xq causes gonadal dysfunction &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt; 6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
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 &lt;br /&gt;
The most frequent clinical feature is short stature and gonadal dysgenesis. Other features may include coarctation of the aorta, renal anomalies, neck webbing, and lymphoedema. The affected organ systems and tissues may are effected to a lesser or greater extent amongst that are affected by turner syndrome. Each person who has turner syndrome all vary in their clinical phenotype. In recent years there has been increased interest in Turner Syndrome due to the introduction of growth hormone treatment. There has been marked improvement in the understanding of this condition as advances in molecular genetic techniques occur. However, there still further research to be completed. A multidisciplinary approach to treatment is important to improve the quality of life of girls with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
 &lt;br /&gt;
[[File:Karyotype.jpg|200px|thumb|left|The arrow indicates the presence of only one X chromosome in Karyotype]]&lt;br /&gt;
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== Epidemiology ==&lt;br /&gt;
&lt;br /&gt;
Turner Syndrome affects about 1 in 2000 live-born females. There are three types of karyotypic abnormalities but the most frequently seen is where the entire X chromosome is missing resulting in 45 X karyotype. The remaining third have structural abnormalities of the X chromosomes, and two thirds are mosaics. Whereby, the maternal X is retained in two-thirds of women and the paternal X in the remainder.&lt;br /&gt;
The phenotype of Turner Syndrome is varies but it involves anomalies of the sex chromosome. It could be caused by the limited amount of genetic material in these abnormal chromosomes. Turner Syndrome can be transmitted from mother to daughter, and thus can it could be described as a heredity linked syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The loss of one of the sex chromosomes of turner syndrome occurs after the zygote has formed or just after the fusion of the gametes. In 70-80% of cases the retained X is from the mother. In such circumstances has lead to the different phenotypic expression of the genes present on the X chromosome depending upon if it came from the mother or father. &lt;br /&gt;
The morphological differences from those retaining the maternal compared to retaining the paternal X is have shown to have a greater incidence of cardiovascular anomalies and neck webbing. &lt;br /&gt;
The missing sex chromosome could be either an X or a Y. This has clinical implications because if the Y material is present there is a risk of up to 30% of gonadoblastoma developing in the dysgenetic gonads. This is because the 'gonadoblastoma locus' is on the Y chromosome which is believed to be situated on the long arm of the Y just below the centromere.&lt;br /&gt;
Another factor affecting the phenotype in Turner syndrome is the inactivation of the abnormal X chromosomes. In a normal fetus there should be only one X chromosome that is active in each cell &amp;lt;ref&amp;gt;Wade, Nicholas (2009-09-15). '''&amp;quot;New Clues to Sex Anomalies in How Y Chromosomes Are Copied&amp;quot;'''. The New York Times. Retrieved 2010-05-26. http://www.nytimes.com/2009/09/15/science/15chrom.html?pagewanted=1&amp;amp;_r=1&amp;amp;hpw&amp;lt;/ref&amp;gt;.&lt;br /&gt;
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[[File:Stats abnormal.jpg]]  &lt;br /&gt;
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Abnormalities associated with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
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== Etiology ==&lt;br /&gt;
[[File:nondisjunction.jpg|850px|thumb|right|alt text|This figure shows the progeny created from normal disjunction (A), and non-disjunction during both Meiosis I (B) and Meiosis II (C).]]&lt;br /&gt;
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Causation of Turner Syndrome (TS) can be traced back to the stages of sex-cell development.  When sex cells divide through a process called [[#Glossary | '''meiosis''']] to create [[#Glossary | '''gametes''']], either a [[#Glossary | '''haploid''']] egg (for females) or sperm (for males) two divisions occur, Meiosis I and Meiosis II.  Meiosis is the main process which helps create the vast genetic diversity within all populations by allowing [[#Glossary | '''recombination''']] and [[#Glossary | '''random assortment''']].  During Meiosis I [[#Glossary | '''homologous chromosomes''']] are separated; following Meiosis I, [[#Glossary | '''sister chromatids''']] separate during Meiosis II.  If during either stage of Meiosis I or II the homologous chromosomes or sister chromatids, respectively, do not fully separate, a phenomenon can occur called [[#Glossary | '''nondisjunction''']].  Nondisjunction causes an uneven distribution of genetic material to each daughter nuclei.  When an uneven distribution is such that one of the gametes does not have any of a chromosome, it can combine with another normal gamete to create a fertilized egg with only one chromosome as opposed to the normal two that are found in human cells; this is called a [[#Glossary | '''monosomy''']].  When this occurs in the sex chromosomes leaving only a single X chromosome (X0 genotype) Turner Syndrome is created, leaving only 45 chromosomes in the zygote rather than the normal 46.  &lt;br /&gt;
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[[File:22+23=45.jpg|350px|thumb|left|22 chromosomal egg + 23 chromosomal sperm = 45 chromsomes in zygote instead of normal 46.]]&lt;br /&gt;
Turner Syndrome can also be created by partial monosomy or disjunctions, meaning that although a whole X chromosome is not missing, portions of it are not present or are non-functional, rendering the chromosome useless.  Any disjunction seems to be completely sporadic and have yet to be attributed to any genetic link. The only thing known for sure is that during conception a portion of or the whole second sex chromosome is not conveyed to the zygote.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;7763055&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; Because at least one X chromosome is necessary for vital functions, this condition can only be found in females.&lt;br /&gt;
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== Clinical Manifestations ==&lt;br /&gt;
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The following are a list of characteristics and diseases which tend to accompany, be caused by, or be related to Turner Syndrome.  &lt;br /&gt;
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===Physical Attributes:===&lt;br /&gt;
*congenital malformations (heart, urinary system, face, neck, ears) &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*gonadal dysgenesis (causes estrogen deficiencies, which can cause infertility) &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*increased risk of fractures &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16624607&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low cortical bone mineral density (BMD) &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;/&amp;gt;&lt;br /&gt;
*middle ear infections &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*premature ovarian failure &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*short/reduced stature &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*webbed neck &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;17562588&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Decreased Cognition:===&lt;br /&gt;
*emotion processing difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;20014362&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*increased impulsivity &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;19750135&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low IQ score &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
*nonverbal learning disability (slow math calculations)&amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*social cognition difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*visuoperception/visuoconstruction deficit (identifying and locating is difficult due to poor visual working memory) &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
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===Increased Risk of:===&lt;br /&gt;
*cirrhosis of the liver &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*colon and rectal cancers &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*hypothyroidism &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*inflammatory bowel disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
*morbidity and mortality &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*neurovascular disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*osteoporosis &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*ovarian failure &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*renal and gastrointestinal disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
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===Prone to Develop Autoimmune Conditions:=== &lt;br /&gt;
*alopecia areata &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coeliac disease (CD) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12466343&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*psoriasis &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;/&amp;gt;&lt;br /&gt;
*thyroiditis &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*type 1 diabetes &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
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===Cardiac Abnormalities:===&lt;br /&gt;
(most serious/life threatening medical problems created by Turner Syndrome)&lt;br /&gt;
*absence of portal vein &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16612647&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*aortic dilatation and dissection  &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*arrhythmias &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;17015510&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*arteriosclerosis &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*biscuspid aortic valves &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*coarctation of the aorta &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*hypertension &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*ischemic heart disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*mitral valve prolapsed &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
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== Diagnostic Procedures ==&lt;br /&gt;
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===Diagnostic Definition===&lt;br /&gt;
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[[File:Turner Syndrome X Chromosome Variations.jpg|thumb|right|Variations of the Second X Chromosome in Turner Syndrome]]&lt;br /&gt;
Turner syndrome is diagnosed through both an evaluation of physical features and by analysis of the second sex chromosome. The two criteria must be met for classification of Turner syndrome, an abnormality in the second sex chromosome must be found and the abnormality must be found to be expressed somehow in the individual's traits. Hence if physical characteristics are not present even when the cytogenetic criterion is met the patient is not diagnosed as having Turner syndrome.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; In Turner syndrome the second sex chromosome is either:&lt;br /&gt;
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*Completely absent (45,X)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Partially absent&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
*Forms an isochromosome (isoXq), possessing a long arm duplication (q) and being devoid of a short arm (p)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*In a ring formation (rX)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
*Is devoid of the homeobox gene, [[#Glossary | '''SHOX''']] (short stature homeobox), the deletion being prior to the junction between Xp22.2 and Xp22.3&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
Any of these variations of the second sex chromosome may occur with or without cell line [[#Glossary | '''mosaicism''']].&lt;br /&gt;
Turner syndrome may be diagnosed prenatally or postnatally, using this genetic diagnostic definition coupled with an appropriate phenotypic evaluation of the individual, as outlined below.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
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===Prenatal Diagnosis===&lt;br /&gt;
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The prenatal diagnostic tool for Turner syndrome is karyotype screening and testing for phenotype abnormalities. If Turner syndrome is diagnosed prenatally, karyotype screening and an evaluation of the individual's traits should be conducted again postnatally for confirmation of this diagnosis. Turner syndrome is frequently diagnosed after karyotype screening during [[#Glossary | '''chorionic villous sampling''']] or [[#Glossary | '''amniocentesis''']].&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
The table below outlines various prenatal tests conducted and the indications that may be present in babies with Turner syndrome. Although these techniques and the indications they reveal may highlight Turner syndrome signs, they should not be used as sole diagnostic tools.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
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{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Technique'''&lt;br /&gt;
| '''Turner syndrome indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Ultrasound'''&lt;br /&gt;
|&lt;br /&gt;
*Increased nuchal translucency &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Cystic hygroma''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Coarctation''']] of the aorta &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Left-sided cardiac defects &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Brachycephaly''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Renal anomalies &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Polyhydramnios''']] &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Oligohydramnios''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Growth retardation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;10599686&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Turner Syndrome Test Showing Nuchal Translucency.gif|none|thumb|400px|Figure 2: Ultrasound Test Showing Nuchal Translucency.]]&lt;br /&gt;
[[File:Turner Syndrome Test Showing Cystic Hygroma.gif|none|thumb|400px|Figure 3: Ultrasound Test Showing Cystic Hygroma.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Maternal serum screening'''&lt;br /&gt;
|&lt;br /&gt;
*Abnormal [[#Glossary | '''α-fetoprotein''']] levels &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary | '''inhibin A''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary | '''hCG''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal unconjugated [[#Glossary | '''estriol''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
|[[File: TurnerSyndromeMaternalSerumSampling.jpg|none|thumb|400px|Figure 4: Maternal Serum Sampling.]]&lt;br /&gt;
|}&lt;br /&gt;
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===Postnatal Diagnosis===&lt;br /&gt;
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In postnatal diagnosis, [[#Glossary | '''karyotype''']] investigation is undertaken for the individual. When a female presents with the following clinical findings, explained in table below, it is recommended that chromosomal analysis is undertaken, so that Turner syndrome may be eliminated&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;:&lt;br /&gt;
{|sstyle= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Age'''&lt;br /&gt;
| '''Phenotypic manifestations/indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Baby/infant'''&lt;br /&gt;
|&lt;br /&gt;
*Oedema of the hands or feet&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Nuchal folds &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Cardiac abnormalities for example aortic dilation, bicuspid aortic valve and aortic coarctation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Low hairline &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Low set ears &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Small mandible &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Gonadal dysgenesis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Child'''&lt;br /&gt;
| &lt;br /&gt;
*Short stature with low growth velocity &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Cubitus valgus''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Nail [[#Glossary | '''hypoplasia''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Hyperconvex uplifted nails &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Multiple pigmented benign birthmarks/moles &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Characteristic faecies &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Short fourth metacarpal &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*High arched palate &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Extensive and chronic inflammation/infection of the ear &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Hearing loss &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 4 year old child.jpg|left|thumb|150px|Figure 5: Four-year-old girl with Turner's syndrome. Note somewhat broad chest, prominent ears and ptosis, but otherwise normal proportion. There is no pronounced neck webbing or edema.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Adolescent/Adult'''&lt;br /&gt;
|&lt;br /&gt;
*Absence of breast development by 13 yr of age &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Pubertal arrest &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Primary or secondary amenorrhoea&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Unexplained short stature &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Renal abnormalities &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Immune disorders &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 35 year old woman.jpg|none|thumb|150px|Figure 6: A Thirtyfive-year-old woman with Turner's syndrome. Note increased carrying angle of arms, broad flat chest and sexual infantilism, but the lack of pronounced neck webbing or peripheral edema.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Since an absence of the physical signs of puberty and/or growth failure are often seen as normal variations in the population, these possible indications/symptoms of Turner syndrome may not be further investigated by many clinicians.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20361125&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; When karyotyping in order to exclude natural cell variation, a sufficient number of cells should be assessed. Whilst a sample of blood will often reveal Turner syndrome, an evaluation of a second tissue sample like the skin is recommend.&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
[[#Glossary | '''DNA hybridisation''']] or [[#Glossary | '''fluorescent in situ hybridisation''']] should be conducted using a Y centromeric or short arm probe to detect for any additional Y or X chromosomal material.&lt;br /&gt;
If there is any of the Y chromosome present, this may initiate [[#Glossary | '''gonadoblastoma''']] development, another primary indicator of Turner syndrome. Hence the individual should have both a vaginal [[#Glossary | '''ultrasonograph''']] and colour [[#Glossary | '''Doppler sonograph''']] of their gonads to detect whether any Y chromosome fragments are present. These tests should be repeated regularly to monitor the patient for any malignancy, if a gonadectomy is not undertaken.&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== Treatment ==&lt;br /&gt;
&lt;br /&gt;
=== Cardiac Treatment ===&lt;br /&gt;
&lt;br /&gt;
When patients are confirmed with Turner Syndrome, it is necessary to have a full cardiac evaulation including a physical exam and a echocardiogram. If cardiac abnormalities are found, monitoring by a cardiologist is recommended including regular blood pressure checks&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  Coarctation of the aorta and hypoplastic left heart are quite often very serious issues are need to be dealt with surgically&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
If no abnormalities are found, blood pressure in Turner Syndrome patients is still routinely checked and a follow up cardiac evaulation is recommended for girls around the age of puberty (12-15)&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Speech ===&lt;br /&gt;
&lt;br /&gt;
Many Turner Syndrome patients have trouble with their speech. It is necessary for them to be refered to an Ear, Nose and Throat specialist and to a speech therapist to work on improve any speech problems&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Management of Puberty and Growth ===&lt;br /&gt;
The main treatment for growth and pubertal development is Hormone Replacement Therapy. Growth Hormone is adminstered to girls with abnormal growth, resulting in postive growth that is consistent with the expected height of the patient. It is adminstered as early as 2 years of age, but more often in the age group of 9-12 which is in line with the growth spurt that occurs during puberty&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Natural estrogen and progesterone are administered to girls when they reach the age of puberty in early adolescence. The age at which this treatment commences varies between individuals, as does the dosage. The adminsteration of estrogen will begin the process of puberty in girls affected by Turner Syndrome and it is important that this begins around the same time as her peers&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. The use of estrogen is often held off if the patient is also undergoing GH treatment so that maximum growth can be achieved, as estrogen will induce the fusion of the epiphyses and limit longitudinal bone growth&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Around 10% of nonmosaic and 20% of mosaic women with Turner’s will have spontaneous menses (periods) and may not need to undergo Hormone Replacement to initiate puberty. Around 2-5% of these women will have the potential to fall pregnant naturally&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
=== Appearance ===&lt;br /&gt;
&lt;br /&gt;
Extreme neck webbing maybe worrying or uncomfortable to women with Turner’s and in some cases plastic surgery is undertaken to fix this problem. Also if convex gorwth of toenails occurs, surgery is conducted so that the woman can wear normal shoes&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Ongoing Adult Treatment ===&lt;br /&gt;
&lt;br /&gt;
Closely monitoring the health of Turner Syndrome adults is vital in the reduction of morbidity and mortality. An annual physical evalution should be undertaken which includes, blood pressure, heart auscultation, thyroid function, breast exam, and pap smear&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  &lt;br /&gt;
&lt;br /&gt;
Particular attention needs to be taken in the area of weight and obesity in Turner Syndrome women due to their high risk of developing diabetes, osteoporosis and hypertension. Patients are to be encouraged to have a healthy lifestyle including healthy eating and exercise&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Research ==&lt;br /&gt;
&lt;br /&gt;
===Current research===&lt;br /&gt;
&lt;br /&gt;
Since there is no preventative or cure, currently mainly research is being conducted into the areas of symptoms, possible treatments and risks involved with Turner syndrome.&lt;br /&gt;
&lt;br /&gt;
'''Growth hormone therapy in Turner syndrome: its affect on height, weight and stature.'''&lt;br /&gt;
*'''Growth hormone effect on body composition in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21720878&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research findings from this paper conclude that people with Turner syndrome have lower height, higher BMI and higher proportional sitting height and leg length than that of the normal population, no matter whether they undergo hormone replacement therapy or not.&lt;br /&gt;
*'''Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21619701&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study has concluded that all adults with Turner syndrome had a similar quality of life regardless of whether they have a higher stature due to undergoing growth hormone replacement therapy or not. It was hypothesised that height differences did not affect quality of life as the individuals seemed to adapt to their own life challenges.&lt;br /&gt;
*'''Growth hormone treatment for Turner syndrome in Australia reveals that younger age and increased dose interact to improve response.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21375553&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research from this study found that growth hormone therapy works most optimally if given earlier in life and at a high dose in the first year of treatment.&lt;br /&gt;
*'''Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21398400&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: Another study which confers that the early introduction of growth hormone therapy is most efficacious. However the individual's glucose metabolism should be monitored as the hormones may affect glucose tolerance transiently.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Oestrogen hormone replacement therapy in Turner syndrome: the adequate dosage and its effect on uterine development, breast development, bone mineral density and sexual characteristics.'''&lt;br /&gt;
*'''Growth hormone plus childhood low-dose estrogen in Turner's syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21449786&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study indicates that undergoing both growth hormone and oestrogen therapy together may help increase the efficacy of each (increasing growth in height and pubertal development) more than when they act alone. &lt;br /&gt;
*'''Estrogen requirements in girls with Turner syndrome; how low is enough for initiating puberty and uterine development?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21793702&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study assessed the minimal dosage of estrogen that is required to bring about desired pubertal development in girls with Turner syndrome.&lt;br /&gt;
*'''Puberty induction in Turner syndrome: results of oestrogen treatment on development of secondary sexual characteristics, uterine dimensions and serum hormone levels.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19200215&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: It was found that uterus of women with Turner syndrome who had undergone oestrogen was underdeveloped, however the exact cause of this needs to be further researched.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Pregnancy and Turner syndrome: evaluation and treatment of risks involved with pregnancy for: the mothers of Turner syndrome babies, for individuals with Turner syndrome and for the babies of individuals with Turner syndrome.'''&lt;br /&gt;
*'''Familial occurrence of Turner syndrome: casual event or increased risk?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21648298&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research examined whether there is a higher probability of having a second child with Turner syndrome and concluded that there is evidence in the small cohort that they used of a greater probability. It is suggested that a larger study be conducted to look further into these findings.that &lt;br /&gt;
*'''Obstetric Outcomes in Women with Turner Karyotype.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21865365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: In this study it was found that women with Turner syndrome had shorter pregnancies than that of a control group, but no other marked difference was observed between the groups.&lt;br /&gt;
*'''Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21496813&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This paper examined a number of pregnant women with Turner syndrome, some who incidentally went through puberty even though they had no hormone replacement therapy and another group that had undertaken hormone replacement therapy. Though there were not many complications in either group, the groups were small in number and one mother did have cardiovascular difficulties later on in life. Hence a thorough examination of pregnant Turner syndrome women should be conducted prior to conception.&lt;br /&gt;
*'''Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20923275&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This article assessed the prognosis of pregnant women with Turner syndrome. They concluded that spontaneous pregnancy increases the risk of the baby having phenotypic and chromosomal abnormalities compared with women having assisted reproductive therapies.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Future research=== &lt;br /&gt;
&lt;br /&gt;
Future research needs to be conducted in the following areas: to follow up on the suggestions given in the conclusions of current research papers as outlined in the prior section and also into how the care system is functioning for Turner syndrome individuals as outlined below.&lt;br /&gt;
&lt;br /&gt;
*'''Medical Care of Girls with Turner Syndrome: Where are we Lacking?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21454226&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research found that a large proportion (&amp;gt;50%) of people with Turner syndrome are not given adequate information upon diagnosis or screenings for complications and symptoms. Therefore it is suggested in order to rectify this issue that more education should be given to physicians on the syndrome&lt;br /&gt;
*'''Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21752892&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; and '''Turner's syndrome requires multidisciplinary approach.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19514616&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: These article evaluate the need for a multidisciplinary approach to treatment of Turner syndrome. Since the symptoms can be wide ranging and severe, it is difficult but necessary for all of them to be examined in each individual. Hence a greater care plan for individuals should be implemented upon diagnosis.&lt;br /&gt;
&lt;br /&gt;
== Glossary ==&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Alpha-fetoprotein''' is a protein with an unknown function. It makes up, up to one third of the protein serum levels found in the second trimester of pregnancy and in neural tube defects, these alpha-fetoprotein levels are elevated. &amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Amniocentesis''' is a prenatal diagnostic tool. The procedure involves the sampling of amniotic fluid from the amniotic sac using a syringe, that is then tested for a number of abnormalities. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Brachycephaly''' is a condition where the coronal suture of the skull fuses prematurely. Since the skull is unable to expand any further in the anterior-posterior directions due to this closure, it grows to an abnormal size in in the lateral dimension.&amp;lt;ref&amp;gt;Flint, P 2010, ''Flint: Cummings Otolaryngology: Head &amp;amp; Neck Surgery, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-323-05283-2..00186-5--s0045&amp;amp;isbn=978-0-323-05283-2&amp;amp;uniqId=282726024-5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Coarctation''' of the aorta is an abnormality where the aorta is constricted at one or various sections. This can be caused by genetic and/or environmental factors.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Chorionic villous sampling''' is a prenatal diagnostic tool which can be used from 7 weeks after fertilisation. It is used to test for a number of chromosomal abnormalities including X-linked and metabolic disorders.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Cystic hygroma''' is a prenatal abnormality where fluid builds up in the posterior portion of the neck. The body may or may not relieve itself naturally of this accumulation of fluid after birth. &amp;lt;ref&amp;gt;Gabbe, S 2007, ''Gabbe: Obstetrics: Normal and Problem Pregnancies, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-443-06930-7..50011-6--cesec51&amp;amp;isbn=978-0-443-06930-7&amp;amp;uniqId=282726024-10&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''DNA-DNA hybridisation''' is a technique used to compare the similarities and differences between two sets of genes.&amp;lt;ref&amp;gt;Long, S 2009, ''Bradley: Neurology in Clinical Practice, 5th ed.Long: Principles and Practice of Pediatric Infectious Diseases Revised Reprint, 3rd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X&amp;amp;isbn=978-0-7020-3468-8&amp;amp;uniqId=282726024-19#4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Doppler sonography''' uses the doppler effect to help image and measure blood flow pattern in the patient.&amp;lt;ref&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Estriol''' is a hormone that is produced in greater amounts during pregnancy especially in the second and third trimester. One of its main functions is to assist with blood flow in the placenta and uterus.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Gametes''' are reproductive (sex) cells (ie: eggs and sperm) that can unite to form a new cell called a zygote. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6&amp;amp;isbn=978-0-443-06811-9&amp;amp;uniqId=283289096-4#4-u1.0-B978-0-443-06811-9..10001-6--b0020&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Gonadoblastoma''' is an abnormal proliferation of gonadal cells, that may or may not be malignant.&amp;lt;ref&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Haploid''' is the status of a cell having only a single set of unpaired chromosomes, or half the number of chromosomes contained in typical body cells. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10019-3--sec5&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208594256&amp;amp;uniqId=283289096-7#4-u1.0-B978-0-443-06811-9..10019-3--sec5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''hCG''' is the abbreviation for human chorionic gonadotropin. It is a hormone that functions in the early stage of pregnancy to maintain the blood supply to the corpus luteum.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Homologous chromosomes''' are pairs of chromosomes, one each obtained from maternal and paternal gametes.  46 total chromosome complements are within an organism, 22 pairs of which are homologous chromosomes (called autosomes); the other 2 chromosomes are the sex chromosomes. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6--sec7&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208599219&amp;amp;uniqId=283289096-10#4-u1.0-B978-0-443-06811-9..10001-6--sec9&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
'''Hypoplasia''' is when an organ or tissue is not completely developed.&amp;lt;ref&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
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'''Inhibin A''' is a peptide produced by the ovaries and acts to restrain the production of follicle-stimulating hormone.&amp;lt;ref&amp;gt;Melmed, S 2011, ''Melmed: Williams Textbook of Endocrinology, 12th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0324-5..00045-6&amp;amp;isbn=978-1-4377-0324-5&amp;amp;uniqId=282726024-25 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Karyotype''' is an individual's set of chromosomes, both their number and appearance.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Meiosis''' is the specific process of cell division within sex cells which halves the number of chromosomes in the cells through via two cell divisions; this is specific to germ cells only, creating haploid gametes (sex cells) from diploid cells. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
'''Monosomy''' is a condition wherein a specific chromosome is completely missing within one gamete that combines with a normal gamete to form a zygote; a chromosome has no homologue, or matching chromosome, to pair with. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6--sec15&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208595822&amp;amp;uniqId=283289096-8#4-u1.0-B978-0-443-06811-9..10001-6--sec41&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Mosaicism''' is when a particular type or all cells of an individual do not have the same genetic makeup. This is caused by a mutation during embryonic cell division.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Nondisjunction''' is the failure of chromosome pairs to separate entirely during either stage of Meiosis. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec27&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--spara33&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Oligohydramnios''' is a prenatal condition, where there is an insufficient amount of amniotic fluid.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Polyhydramnios''' is a prenatal condition, where there is an excessive amount of amniotic fluid.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Random assortment'''&lt;br /&gt;
&lt;br /&gt;
'''Recombination''' is the process which by genetic material is crossed over and switched between two segments of DNA which adds to the genetic diversity of the genome.&lt;br /&gt;
&lt;br /&gt;
'''SHOX gene''' is the short stature homeobox gene, that when deficient frequently results in short stature.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Sister chromatids'''&lt;br /&gt;
&lt;br /&gt;
'''Ultrasonography''' is a medical technique that employs ultrasound frequencies to visualise a patient's internal bodily structure.&amp;lt;ref&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== References ==&lt;br /&gt;
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&amp;lt;references/&amp;gt;&lt;br /&gt;
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{{2011Projects}}&lt;/div&gt;</summary>
		<author><name>Z3217043</name></author>
	</entry>
	<entry>
		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=73770</id>
		<title>2011 Group Project 1</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=73770"/>
		<updated>2011-09-30T11:22:02Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: /* Diagnostic Definition */&lt;/p&gt;
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&lt;div&gt;{{2011ProjectsMH}}&lt;br /&gt;
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== Turner Syndrome ==&lt;br /&gt;
&lt;br /&gt;
--[[User:S8600021|Mark Hill]] 10:44, 8 September 2011 (EST) Some of the existing sub-sections have appropriate content, but there are also empty sub-sections, a total lack of referencing/citation and no glossary. &lt;br /&gt;
* The referencing issue needs urgent  progress.&lt;br /&gt;
* Existing figures/table are appropriate. Table appears to be directly used from an uncited source.&lt;br /&gt;
* There needs to be more images in this work.&lt;br /&gt;
* Where is the student drawn figure?&lt;br /&gt;
* Read http://embryology.med.unsw.edu.au/embryology/index.php?title=Help:Reference_Tutorial#Multiple%20Instances%20on%20Page&lt;br /&gt;
&lt;br /&gt;
== Introduction ==&lt;br /&gt;
&lt;br /&gt;
Turner syndrome, named after Henry Hubert Turner who first described the syndrome in his paper in 1938,&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;4557013&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; is one of the most commonly occuring chromosomal disorders. It is caused by complete or partial X monosomy in some or all cells and occurs in approximately 1 in 2000 live female births, however the morbidity rate of spontaneous abortions is 10% and only about 1% of fetuses survive to term. &lt;br /&gt;
&lt;br /&gt;
During normal fetal development, each ovary contain as many as 7 million oocytes. The oocytes gradually reduced to 400,000 during menarche and during menopause fewer than 10,000 remains. However, in Turner syndrome, the ovaries develop normally during embryogenesis but the absence of the second X chromosome leads to an accelerated loss of oocytes, which is complete by the time the infant, is aged 2. Genetically menopause occurs before menarche and the ovaries are reduced to atrophic fibrous strands, devoid of ova and follicles (streak ovaries). Development of somatic (nongonadal) tissues that reside on the missing/abnormal X chromosome are also severely affected. For example short stature is caused by a deletion of the Xp chromosome and the deletion of Xq causes gonadal dysfunction &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt; 6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
 &lt;br /&gt;
The most frequent clinical feature is short stature and gonadal dysgenesis. Other features may include coarctation of the aorta, renal anomalies, neck webbing, and lymphoedema. The affected organ systems and tissues may are effected to a lesser or greater extent amongst that are affected by turner syndrome. Each person who has turner syndrome all vary in their clinical phenotype. In recent years there has been increased interest in Turner Syndrome due to the introduction of growth hormone treatment. There has been marked improvement in the understanding of this condition as advances in molecular genetic techniques occur. However, there still further research to be completed. A multidisciplinary approach to treatment is important to improve the quality of life of girls with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
 &lt;br /&gt;
[[File:Karyotype.jpg|200px|thumb|left|The arrow indicates the presence of only one X chromosome in Karyotype]]&lt;br /&gt;
&lt;br /&gt;
== Epidemiology ==&lt;br /&gt;
&lt;br /&gt;
Turner Syndrome affects about 1 in 2000 live-born females. There are three types of karyotypic abnormalities but the most frequently seen is where the entire X chromosome is missing resulting in 45 X karyotype. The remaining third have structural abnormalities of the X chromosomes, and two thirds are mosaics. Whereby, the maternal X is retained in two-thirds of women and the paternal X in the remainder.&lt;br /&gt;
The phenotype of Turner Syndrome is varies but it involves anomalies of the sex chromosome. It could be caused by the limited amount of genetic material in these abnormal chromosomes. Turner Syndrome can be transmitted from mother to daughter, and thus can it could be described as a heredity linked syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The loss of one of the sex chromosomes of turner syndrome occurs after the zygote has formed or just after the fusion of the gametes. In 70-80% of cases the retained X is from the mother. In such circumstances has lead to the different phenotypic expression of the genes present on the X chromosome depending upon if it came from the mother or father. &lt;br /&gt;
The morphological differences from those retaining the maternal compared to retaining the paternal X is have shown to have a greater incidence of cardiovascular anomalies and neck webbing. &lt;br /&gt;
The missing sex chromosome could be either an X or a Y. This has clinical implications because if the Y material is present there is a risk of up to 30% of gonadoblastoma developing in the dysgenetic gonads. This is because the 'gonadoblastoma locus' is on the Y chromosome which is believed to be situated on the long arm of the Y just below the centromere.&lt;br /&gt;
Another factor affecting the phenotype in Turner syndrome is the inactivation of the abnormal X chromosomes. In a normal fetus there should be only one X chromosome that is active in each cell &amp;lt;ref&amp;gt;Wade, Nicholas (2009-09-15). '''&amp;quot;New Clues to Sex Anomalies in How Y Chromosomes Are Copied&amp;quot;'''. The New York Times. Retrieved 2010-05-26. http://www.nytimes.com/2009/09/15/science/15chrom.html?pagewanted=1&amp;amp;_r=1&amp;amp;hpw&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
[[File:Stats abnormal.jpg]]  &lt;br /&gt;
&lt;br /&gt;
Abnormalities associated with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Etiology ==&lt;br /&gt;
[[File:nondisjunction.jpg|850px|thumb|right|alt text|This figure shows the progeny created from normal disjunction (A), and non-disjunction during both Meiosis I (B) and Meiosis II (C).]]&lt;br /&gt;
&lt;br /&gt;
Causation of Turner Syndrome (TS) can be traced back to the stages of sex-cell development.  When sex cells divide through a process called [[#Glossary | '''meiosis''']] to create [[#Glossary | '''gametes''']], either a [[#Glossary | '''haploid''']] egg (for females) or sperm (for males) two divisions occur, Meiosis I and Meiosis II.  Meiosis is the main process which helps create the vast genetic diversity within all populations by allowing [[#Glossary | '''recombination''']] and [[#Glossary | '''random assortment''']].  During Meiosis I [[#Glossary | '''homologous chromosomes''']] are separated; following Meiosis I, [[#Glossary | '''sister chromatids''']] separate during Meiosis II.  If during either stage of Meiosis I or II the homologous chromosomes or sister chromatids, respectively, do not fully separate, a phenomenon can occur called [[#Glossary | '''nondisjunction''']].  Nondisjunction causes an uneven distribution of genetic material to each daughter nuclei.  When an uneven distribution is such that one of the gametes does not have any of a chromosome, it can combine with another normal gamete to create a fertilized egg with only one chromosome as opposed to the normal two that are found in human cells; this is called a [[#Glossary | '''monosomy''']].  When this occurs in the sex chromosomes leaving only a single X chromosome (X0 genotype) Turner Syndrome is created, leaving only 45 chromosomes in the zygote rather than the normal 46.  &lt;br /&gt;
&lt;br /&gt;
[[File:22+23=45.jpg|350px|thumb|left|22 chromosomal egg + 23 chromosomal sperm = 45 chromsomes in zygote instead of normal 46.]]&lt;br /&gt;
Turner Syndrome can also be created by partial monosomy or disjunctions, meaning that although a whole X chromosome is not missing, portions of it are not present or are non-functional, rendering the chromosome useless.  Any disjunction seems to be completely sporadic and have yet to be attributed to any genetic link. The only thing known for sure is that during conception a portion of or the whole second sex chromosome is not conveyed to the zygote.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;7763055&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; Because at least one X chromosome is necessary for vital functions, this condition can only be found in females.&lt;br /&gt;
&lt;br /&gt;
== Clinical Manifestations ==&lt;br /&gt;
&lt;br /&gt;
The following are a list of characteristics and diseases which tend to accompany, be caused by, or be related to Turner Syndrome.  &lt;br /&gt;
&lt;br /&gt;
===Physical Attributes:===&lt;br /&gt;
*congenital malformations (heart, urinary system, face, neck, ears) &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*gonadal dysgenesis (causes estrogen deficiencies, which can cause infertility) &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*increased risk of fractures &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16624607&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low cortical bone mineral density (BMD) &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;/&amp;gt;&lt;br /&gt;
*middle ear infections &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*premature ovarian failure &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*short/reduced stature &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*webbed neck &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;17562588&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Decreased Cognition:===&lt;br /&gt;
*emotion processing difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;20014362&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*increased impulsivity &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;19750135&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low IQ score &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
*nonverbal learning disability (slow math calculations)&amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*social cognition difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*visuoperception/visuoconstruction deficit (identifying and locating is difficult due to poor visual working memory) &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Increased Risk of:===&lt;br /&gt;
*cirrhosis of the liver &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*colon and rectal cancers &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*hypothyroidism &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*inflammatory bowel disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
*morbidity and mortality &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*neurovascular disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*osteoporosis &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*ovarian failure &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*renal and gastrointestinal disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Prone to Develop Autoimmune Conditions:=== &lt;br /&gt;
*alopecia areata &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coeliac disease (CD) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12466343&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*psoriasis &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;/&amp;gt;&lt;br /&gt;
*thyroiditis &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*type 1 diabetes &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Cardiac Abnormalities:===&lt;br /&gt;
(most serious/life threatening medical problems created by Turner Syndrome)&lt;br /&gt;
*absence of portal vein &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16612647&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*aortic dilatation and dissection  &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*arrhythmias &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;17015510&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*arteriosclerosis &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*biscuspid aortic valves &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*coarctation of the aorta &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*hypertension &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*ischemic heart disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*mitral valve prolapsed &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== Diagnostic Procedures ==&lt;br /&gt;
&lt;br /&gt;
===Diagnostic Definition===&lt;br /&gt;
&lt;br /&gt;
[[File:Turner Syndrome X Chromosome Variations.jpg|thumb|right|Variations of the Second X Chromosome in Turner Syndrome]]&lt;br /&gt;
Turner syndrome is diagnosed through both an evaluation of physical features and by analysis of the second sex chromosome. The two criteria must be met for classification of Turner syndrome, an abnormality in the second sex chromosome must be found and the abnormality must be found to be expressed somehow in the individual's traits. Hence if physical characteristics are not present even when the cytogenetic criterion is met the patient is not diagnosed as having Turner syndrome.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; In Turner syndrome the second sex chromosome is either:&lt;br /&gt;
&lt;br /&gt;
*Completely absent (45,X)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Partially absent&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
*Forms an isochromosome (isoXq), possessing a long arm duplication (q) and being devoid of a short arm (p)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*In a ring formation (rX)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
*Is devoid of the homeobox gene, [[#Glossary | '''SHOX''']] (short stature homeobox), the deletion being prior to the junction between Xp22.2 and Xp22.3&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
Any of these variations of the second sex chromosome may occur with or without cell line [[#Glossary | '''mosaicism''']].&lt;br /&gt;
Turner syndrome may be diagnosed prenatally or postnatally, using this genetic diagnostic definition coupled with an appropriate phenotypic evaluation of the individual, as outlined below.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Prenatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
The prenatal diagnostic tool for Turner syndrome is karyotype screening and testing for phenotype abnormalities. If Turner syndrome is diagnosed prenatally, karyotype screening and an evaluation of the individual's traits should be conducted again postnatally for confirmation of this diagnosis. Turner syndrome is frequently diagnosed after karyotype screening during [[#Glossary | '''chorionic villous sampling''']] or [[#Glossary | '''amniocentesis''']].&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
The table below outlines various prenatal tests conducted and the indications that may be present in babies with Turner syndrome. Although these techniques and the indications they reveal may highlight Turner syndrome signs, they should not be used as sole diagnostic tools.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Technique'''&lt;br /&gt;
| '''Turner syndrome indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Ultrasound'''&lt;br /&gt;
|&lt;br /&gt;
*Increased nuchal translucency &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Cystic hygroma''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Coarctation''']] of the aorta &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Left-sided cardiac defects &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Brachycephaly''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Renal anomalies &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Polyhydramnios''']] &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Oligohydramnios''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Growth retardation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;10599686&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Turner Syndrome Test Showing Nuchal Translucency.gif|none|thumb|400px|Figure 2: Ultrasound Test Showing Nuchal Translucency.]]&lt;br /&gt;
[[File:Turner Syndrome Test Showing Cystic Hygroma.gif|none|thumb|400px|Figure 3: Ultrasound Test Showing Cystic Hygroma.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Maternal serum screening'''&lt;br /&gt;
|&lt;br /&gt;
*Abnormal [[#Glossary | '''α-fetoprotein''']] levels &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary | '''inhibin A''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary | '''hCG''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal unconjugated [[#Glossary | '''estriol''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
|[[File: TurnerSyndromeMaternalSerumSampling.jpg|none|thumb|400px|Figure 4: Maternal Serum Sampling.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
===Postnatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
In postnatal diagnosis, [[#Glossary | '''karyotype''']] investigation is undertaken for the individual. When a female presents with the following clinical findings, explained in table below, it is recommended that chromosomal analysis is undertaken, so that Turner syndrome may be eliminated&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;:&lt;br /&gt;
{|sstyle= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Age'''&lt;br /&gt;
| '''Phenotypic manifestations/indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Baby/infant'''&lt;br /&gt;
|&lt;br /&gt;
*Oedema of the hands or feet&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Nuchal folds &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Cardiac abnormalities for example aortic dilation, bicuspid aortic valve and aortic coarctation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Low hairline &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Low set ears &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Small mandible &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Gonadal dysgenesis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Child'''&lt;br /&gt;
| &lt;br /&gt;
*Short stature with low growth velocity &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Cubitus valgus''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Nail [[#Glossary | '''hypoplasia''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Hyperconvex uplifted nails &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Multiple pigmented benign birthmarks/moles &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Characteristic faecies &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Short fourth metacarpal &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*High arched palate &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Extensive and chronic inflammation/infection of the ear &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Hearing loss &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 4 year old child.jpg|left|thumb|150px|Figure 5: Four-year-old girl with Turner's syndrome. Note somewhat broad chest, prominent ears and ptosis, but otherwise normal proportion. There is no pronounced neck webbing or edema.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Adolescent/Adult'''&lt;br /&gt;
|&lt;br /&gt;
*Absence of breast development by 13 yr of age &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Pubertal arrest &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Primary or secondary amenorrhoea&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Unexplained short stature &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Renal abnormalities &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Immune disorders &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 35 year old woman.jpg|none|thumb|150px|Figure 6: A Thirtyfive-year-old woman with Turner's syndrome. Note increased carrying angle of arms, broad flat chest and sexual infantilism, but the lack of pronounced neck webbing or peripheral edema.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Since an absence of the physical signs of puberty and/or growth failure are often seen as normal variations in the population, these possible indications/symptoms of Turner syndrome may not be further investigated by many clinicians.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20361125&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; When karyotyping in order to exclude natural cell variation, a sufficient number of cells should be assessed. Whilst a sample of blood will often reveal Turner syndrome, an evaluation of a second tissue sample like the skin is recommend.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
[[#Glossary | '''DNA hybridisation''']] or [[#Glossary | '''fluorescent in situ hybridisation''']] should be conducted using a Y centromeric or short arm probe to detect for any additional Y or X chromosomal material.&lt;br /&gt;
If there is any of the Y chromosome present, this may initiate [[#Glossary | '''gonadoblastoma''']] development, another primary indicator of Turner syndrome. Hence the individual should have both a vaginal [[#Glossary | '''ultrasonograph''']] and colour [[#Glossary | '''Doppler sonograph''']] of their gonads to detect whether any Y chromosome fragments are present. These tests should be repeated regularly to monitor the patient for any malignancy, if a gonadectomy is not undertaken.&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== Treatment ==&lt;br /&gt;
&lt;br /&gt;
=== Cardiac Treatment ===&lt;br /&gt;
&lt;br /&gt;
When patients are confirmed with Turner Syndrome, it is necessary to have a full cardiac evaulation including a physical exam and a echocardiogram. If cardiac abnormalities are found, monitoring by a cardiologist is recommended including regular blood pressure checks&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  Coarctation of the aorta and hypoplastic left heart are quite often very serious issues are need to be dealt with surgically&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
If no abnormalities are found, blood pressure in Turner Syndrome patients is still routinely checked and a follow up cardiac evaulation is recommended for girls around the age of puberty (12-15)&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Speech ===&lt;br /&gt;
&lt;br /&gt;
Many Turner Syndrome patients have trouble with their speech. It is necessary for them to be refered to an Ear, Nose and Throat specialist and to a speech therapist to work on improve any speech problems&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Management of Puberty and Growth ===&lt;br /&gt;
The main treatment for growth and pubertal development is Hormone Replacement Therapy. Growth Hormone is adminstered to girls with abnormal growth, resulting in postive growth that is consistent with the expected height of the patient. It is adminstered as early as 2 years of age, but more often in the age group of 9-12 which is in line with the growth spurt that occurs during puberty&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Natural estrogen and progesterone are administered to girls when they reach the age of puberty in early adolescence. The age at which this treatment commences varies between individuals, as does the dosage. The adminsteration of estrogen will begin the process of puberty in girls affected by Turner Syndrome and it is important that this begins around the same time as her peers&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. The use of estrogen is often held off if the patient is also undergoing GH treatment so that maximum growth can be achieved, as estrogen will induce the fusion of the epiphyses and limit longitudinal bone growth&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Around 10% of nonmosaic and 20% of mosaic women with Turner’s will have spontaneous menses (periods) and may not need to undergo Hormone Replacement to initiate puberty. Around 2-5% of these women will have the potential to fall pregnant naturally&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
=== Appearance ===&lt;br /&gt;
&lt;br /&gt;
Extreme neck webbing maybe worrying or uncomfortable to women with Turner’s and in some cases plastic surgery is undertaken to fix this problem. Also if convex gorwth of toenails occurs, surgery is conducted so that the woman can wear normal shoes&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Ongoing Adult Treatment ===&lt;br /&gt;
&lt;br /&gt;
Closely monitoring the health of Turner Syndrome adults is vital in the reduction of morbidity and mortality. An annual physical evalution should be undertaken which includes, blood pressure, heart auscultation, thyroid function, breast exam, and pap smear&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  &lt;br /&gt;
&lt;br /&gt;
Particular attention needs to be taken in the area of weight and obesity in Turner Syndrome women due to their high risk of developing diabetes, osteoporosis and hypertension. Patients are to be encouraged to have a healthy lifestyle including healthy eating and exercise&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Research ==&lt;br /&gt;
&lt;br /&gt;
===Current research===&lt;br /&gt;
&lt;br /&gt;
Since there is no preventative or cure, currently mainly research is being conducted into the areas of symptoms, possible treatments and risks involved with Turner syndrome.&lt;br /&gt;
&lt;br /&gt;
'''Growth hormone therapy in Turner syndrome: its affect on height, weight and stature.'''&lt;br /&gt;
*'''Growth hormone effect on body composition in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21720878&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research findings from this paper conclude that people with Turner syndrome have lower height, higher BMI and higher proportional sitting height and leg length than that of the normal population, no matter whether they undergo hormone replacement therapy or not.&lt;br /&gt;
*'''Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21619701&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study has concluded that all adults with Turner syndrome had a similar quality of life regardless of whether they have a higher stature due to undergoing growth hormone replacement therapy or not. It was hypothesised that height differences did not affect quality of life as the individuals seemed to adapt to their own life challenges.&lt;br /&gt;
*'''Growth hormone treatment for Turner syndrome in Australia reveals that younger age and increased dose interact to improve response.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21375553&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research from this study found that growth hormone therapy works most optimally if given earlier in life and at a high dose in the first year of treatment.&lt;br /&gt;
*'''Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21398400&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: Another study which confers that the early introduction of growth hormone therapy is most efficacious. However the individual's glucose metabolism should be monitored as the hormones may affect glucose tolerance transiently.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Oestrogen hormone replacement therapy in Turner syndrome: the adequate dosage and its effect on uterine development, breast development, bone mineral density and sexual characteristics.'''&lt;br /&gt;
*'''Growth hormone plus childhood low-dose estrogen in Turner's syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21449786&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study indicates that undergoing both growth hormone and oestrogen therapy together may help increase the efficacy of each (increasing growth in height and pubertal development) more than when they act alone. &lt;br /&gt;
*'''Estrogen requirements in girls with Turner syndrome; how low is enough for initiating puberty and uterine development?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21793702&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study assessed the minimal dosage of estrogen that is required to bring about desired pubertal development in girls with Turner syndrome.&lt;br /&gt;
*'''Puberty induction in Turner syndrome: results of oestrogen treatment on development of secondary sexual characteristics, uterine dimensions and serum hormone levels.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19200215&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: It was found that uterus of women with Turner syndrome who had undergone oestrogen was underdeveloped, however the exact cause of this needs to be further researched.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Pregnancy and Turner syndrome: evaluation and treatment of risks involved with pregnancy for: the mothers of Turner syndrome babies, for individuals with Turner syndrome and for the babies of individuals with Turner syndrome.'''&lt;br /&gt;
*'''Familial occurrence of Turner syndrome: casual event or increased risk?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21648298&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research examined whether there is a higher probability of having a second child with Turner syndrome and concluded that there is evidence in the small cohort that they used of a greater probability. It is suggested that a larger study be conducted to look further into these findings.that &lt;br /&gt;
*'''Obstetric Outcomes in Women with Turner Karyotype.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21865365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: In this study it was found that women with Turner syndrome had shorter pregnancies than that of a control group, but no other marked difference was observed between the groups.&lt;br /&gt;
*'''Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21496813&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This paper examined a number of pregnant women with Turner syndrome, some who incidentally went through puberty even though they had no hormone replacement therapy and another group that had undertaken hormone replacement therapy. Though there were not many complications in either group, the groups were small in number and one mother did have cardiovascular difficulties later on in life. Hence a thorough examination of pregnant Turner syndrome women should be conducted prior to conception.&lt;br /&gt;
*'''Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20923275&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This article assessed the prognosis of pregnant women with Turner syndrome. They concluded that spontaneous pregnancy increases the risk of the baby having phenotypic and chromosomal abnormalities compared with women having assisted reproductive therapies.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Future research=== &lt;br /&gt;
&lt;br /&gt;
Future research needs to be conducted in the following areas: to follow up on the suggestions given in the conclusions of current research papers as outlined in the prior section and also into how the care system is functioning for Turner syndrome individuals as outlined below.&lt;br /&gt;
&lt;br /&gt;
*'''Medical Care of Girls with Turner Syndrome: Where are we Lacking?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21454226&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research found that a large proportion (&amp;gt;50%) of people with Turner syndrome are not given adequate information upon diagnosis or screenings for complications and symptoms. Therefore it is suggested in order to rectify this issue that more education should be given to physicians on the syndrome&lt;br /&gt;
*'''Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21752892&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; and '''Turner's syndrome requires multidisciplinary approach.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19514616&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: These article evaluate the need for a multidisciplinary approach to treatment of Turner syndrome. Since the symptoms can be wide ranging and severe, it is difficult but necessary for all of them to be examined in each individual. Hence a greater care plan for individuals should be implemented upon diagnosis.&lt;br /&gt;
&lt;br /&gt;
== Glossary ==&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Alpha-fetoprotein''' is a protein with an unknown function. It makes up, up to one third of the protein serum levels found in the second trimester of pregnancy and in neural tube defects, these alpha-fetoprotein levels are elevated. &amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Amniocentesis''' is a prenatal diagnostic tool. The procedure involves the sampling of amniotic fluid from the amniotic sac using a syringe, that is then tested for a number of abnormalities. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Brachycephaly''' is a condition where the coronal suture of the skull fuses prematurely. Since the skull is unable to expand any further in the anterior-posterior directions due to this closure, it grows to an abnormal size in in the lateral dimension.&amp;lt;ref&amp;gt;Flint, P 2010, ''Flint: Cummings Otolaryngology: Head &amp;amp; Neck Surgery, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-323-05283-2..00186-5--s0045&amp;amp;isbn=978-0-323-05283-2&amp;amp;uniqId=282726024-5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Coarctation''' of the aorta is an abnormality where the aorta is constricted at one or various sections. This can be caused by genetic and/or environmental factors.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Chorionic villous sampling''' is a prenatal diagnostic tool which can be used from 7 weeks after fertilisation. It is used to test for a number of chromosomal abnormalities including X-linked and metabolic disorders.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Cystic hygroma''' is a prenatal abnormality where fluid builds up in the posterior portion of the neck. The body may or may not relieve itself naturally of this accumulation of fluid after birth. &amp;lt;ref&amp;gt;Gabbe, S 2007, ''Gabbe: Obstetrics: Normal and Problem Pregnancies, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-443-06930-7..50011-6--cesec51&amp;amp;isbn=978-0-443-06930-7&amp;amp;uniqId=282726024-10&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''DNA-DNA hybridisation''' is a technique used to compare the similarities and differences between two sets of genes.&amp;lt;ref&amp;gt;Long, S 2009, ''Bradley: Neurology in Clinical Practice, 5th ed.Long: Principles and Practice of Pediatric Infectious Diseases Revised Reprint, 3rd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X&amp;amp;isbn=978-0-7020-3468-8&amp;amp;uniqId=282726024-19#4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Doppler sonography''' uses the doppler effect to help image and measure blood flow pattern in the patient.&amp;lt;ref&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Estriol''' is a hormone that is produced in greater amounts during pregnancy especially in the second and third trimester. One of its main functions is to assist with blood flow in the placenta and uterus.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Gametes''' are reproductive (sex) cells (ie: eggs and sperm) that can unite to form a new cell called a zygote. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6&amp;amp;isbn=978-0-443-06811-9&amp;amp;uniqId=283289096-4#4-u1.0-B978-0-443-06811-9..10001-6--b0020&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Gonadoblastoma''' is an abnormal proliferation of gonadal cells, that may or may not be malignant.&amp;lt;ref&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Haploid''' is the status of a cell having only a single set of unpaired chromosomes, or half the number of chromosomes contained in typical body cells. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10019-3--sec5&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208594256&amp;amp;uniqId=283289096-7#4-u1.0-B978-0-443-06811-9..10019-3--sec5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''hCG''' is the abbreviation for human chorionic gonadotropin. It is a hormone that functions in the early stage of pregnancy to maintain the blood supply to the corpus luteum.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Homologous chromosomes''' are pairs of chromosomes, one each obtained from maternal and paternal gametes.  46 total chromosome complements are within an organism, 22 pairs of which are homologous chromosomes (called autosomes); the other 2 chromosomes are the sex chromosomes. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6--sec7&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208599219&amp;amp;uniqId=283289096-10#4-u1.0-B978-0-443-06811-9..10001-6--sec9&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
'''Hypoplasia''' is when an organ or tissue is not completely developed.&amp;lt;ref&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Inhibin A''' is a peptide produced by the ovaries and acts to restrain the production of follicle-stimulating hormone.&amp;lt;ref&amp;gt;Melmed, S 2011, ''Melmed: Williams Textbook of Endocrinology, 12th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0324-5..00045-6&amp;amp;isbn=978-1-4377-0324-5&amp;amp;uniqId=282726024-25 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Karyotype''' is an individual's set of chromosomes, both their number and appearance.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Meiosis''' is the specific process of cell division within sex cells which halves the number of chromosomes in the cells through via two cell divisions; this is specific to germ cells only, creating haploid gametes (sex cells) from diploid cells. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
'''Monosomy''' is a condition wherein a specific chromosome is completely missing within one gamete that combines with a normal gamete to form a zygote; a chromosome has no homologue, or matching chromosome, to pair with. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6--sec15&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208595822&amp;amp;uniqId=283289096-8#4-u1.0-B978-0-443-06811-9..10001-6--sec41&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Mosaicism''' is when a particular type or all cells of an individual do not have the same genetic makeup. This is caused by a mutation during embryonic cell division.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Nondisjunction''' is the failure of chromosome pairs to separate entirely during either stage of Meiosis. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec27&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--spara33&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Oligohydramnios''' is a prenatal condition, where there is an insufficient amount of amniotic fluid.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Polyhydramnios''' is a prenatal condition, where there is an excessive amount of amniotic fluid.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Random assortment'''&lt;br /&gt;
&lt;br /&gt;
'''Recombination''' is the process which by genetic material is crossed over and switched between two segments of DNA which adds to the genetic diversity of the genome.&lt;br /&gt;
&lt;br /&gt;
'''SHOX gene''' is the short stature homeobox gene, that when deficient frequently results in short stature.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Sister chromatids'''&lt;br /&gt;
&lt;br /&gt;
'''Ultrasonography''' is a medical technique that employs ultrasound frequencies to visualise a patient's internal bodily structure.&amp;lt;ref&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== References ==&lt;br /&gt;
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&amp;lt;references/&amp;gt;&lt;br /&gt;
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{{2011Projects}}&lt;/div&gt;</summary>
		<author><name>Z3217043</name></author>
	</entry>
	<entry>
		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=73769</id>
		<title>2011 Group Project 1</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=73769"/>
		<updated>2011-09-30T11:20:38Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: /* Diagnostic Definition */&lt;/p&gt;
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&lt;div&gt;{{2011ProjectsMH}}&lt;br /&gt;
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== Turner Syndrome ==&lt;br /&gt;
&lt;br /&gt;
--[[User:S8600021|Mark Hill]] 10:44, 8 September 2011 (EST) Some of the existing sub-sections have appropriate content, but there are also empty sub-sections, a total lack of referencing/citation and no glossary. &lt;br /&gt;
* The referencing issue needs urgent  progress.&lt;br /&gt;
* Existing figures/table are appropriate. Table appears to be directly used from an uncited source.&lt;br /&gt;
* There needs to be more images in this work.&lt;br /&gt;
* Where is the student drawn figure?&lt;br /&gt;
* Read http://embryology.med.unsw.edu.au/embryology/index.php?title=Help:Reference_Tutorial#Multiple%20Instances%20on%20Page&lt;br /&gt;
&lt;br /&gt;
== Introduction ==&lt;br /&gt;
&lt;br /&gt;
Turner syndrome, named after Henry Hubert Turner who first described the syndrome in his paper in 1938,&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;4557013&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; is one of the most commonly occuring chromosomal disorders. It is caused by complete or partial X monosomy in some or all cells and occurs in approximately 1 in 2000 live female births, however the morbidity rate of spontaneous abortions is 10% and only about 1% of fetuses survive to term. &lt;br /&gt;
&lt;br /&gt;
During normal fetal development, each ovary contain as many as 7 million oocytes. The oocytes gradually reduced to 400,000 during menarche and during menopause fewer than 10,000 remains. However, in Turner syndrome, the ovaries develop normally during embryogenesis but the absence of the second X chromosome leads to an accelerated loss of oocytes, which is complete by the time the infant, is aged 2. Genetically menopause occurs before menarche and the ovaries are reduced to atrophic fibrous strands, devoid of ova and follicles (streak ovaries). Development of somatic (nongonadal) tissues that reside on the missing/abnormal X chromosome are also severely affected. For example short stature is caused by a deletion of the Xp chromosome and the deletion of Xq causes gonadal dysfunction &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt; 6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
 &lt;br /&gt;
The most frequent clinical feature is short stature and gonadal dysgenesis. Other features may include coarctation of the aorta, renal anomalies, neck webbing, and lymphoedema. The affected organ systems and tissues may are effected to a lesser or greater extent amongst that are affected by turner syndrome. Each person who has turner syndrome all vary in their clinical phenotype. In recent years there has been increased interest in Turner Syndrome due to the introduction of growth hormone treatment. There has been marked improvement in the understanding of this condition as advances in molecular genetic techniques occur. However, there still further research to be completed. A multidisciplinary approach to treatment is important to improve the quality of life of girls with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
 &lt;br /&gt;
[[File:Karyotype.jpg|200px|thumb|left|The arrow indicates the presence of only one X chromosome in Karyotype]]&lt;br /&gt;
&lt;br /&gt;
== Epidemiology ==&lt;br /&gt;
&lt;br /&gt;
Turner Syndrome affects about 1 in 2000 live-born females. There are three types of karyotypic abnormalities but the most frequently seen is where the entire X chromosome is missing resulting in 45 X karyotype. The remaining third have structural abnormalities of the X chromosomes, and two thirds are mosaics. Whereby, the maternal X is retained in two-thirds of women and the paternal X in the remainder.&lt;br /&gt;
The phenotype of Turner Syndrome is varies but it involves anomalies of the sex chromosome. It could be caused by the limited amount of genetic material in these abnormal chromosomes. Turner Syndrome can be transmitted from mother to daughter, and thus can it could be described as a heredity linked syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The loss of one of the sex chromosomes of turner syndrome occurs after the zygote has formed or just after the fusion of the gametes. In 70-80% of cases the retained X is from the mother. In such circumstances has lead to the different phenotypic expression of the genes present on the X chromosome depending upon if it came from the mother or father. &lt;br /&gt;
The morphological differences from those retaining the maternal compared to retaining the paternal X is have shown to have a greater incidence of cardiovascular anomalies and neck webbing. &lt;br /&gt;
The missing sex chromosome could be either an X or a Y. This has clinical implications because if the Y material is present there is a risk of up to 30% of gonadoblastoma developing in the dysgenetic gonads. This is because the 'gonadoblastoma locus' is on the Y chromosome which is believed to be situated on the long arm of the Y just below the centromere.&lt;br /&gt;
Another factor affecting the phenotype in Turner syndrome is the inactivation of the abnormal X chromosomes. In a normal fetus there should be only one X chromosome that is active in each cell &amp;lt;ref&amp;gt;Wade, Nicholas (2009-09-15). '''&amp;quot;New Clues to Sex Anomalies in How Y Chromosomes Are Copied&amp;quot;'''. The New York Times. Retrieved 2010-05-26. http://www.nytimes.com/2009/09/15/science/15chrom.html?pagewanted=1&amp;amp;_r=1&amp;amp;hpw&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
[[File:Stats abnormal.jpg]]  &lt;br /&gt;
&lt;br /&gt;
Abnormalities associated with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Etiology ==&lt;br /&gt;
[[File:nondisjunction.jpg|850px|thumb|right|alt text|This figure shows the progeny created from normal disjunction (A), and non-disjunction during both Meiosis I (B) and Meiosis II (C).]]&lt;br /&gt;
&lt;br /&gt;
Causation of Turner Syndrome (TS) can be traced back to the stages of sex-cell development.  When sex cells divide through a process called [[#Glossary | '''meiosis''']] to create [[#Glossary | '''gametes''']], either a [[#Glossary | '''haploid''']] egg (for females) or sperm (for males) two divisions occur, Meiosis I and Meiosis II.  Meiosis is the main process which helps create the vast genetic diversity within all populations by allowing [[#Glossary | '''recombination''']] and [[#Glossary | '''random assortment''']].  During Meiosis I [[#Glossary | '''homologous chromosomes''']] are separated; following Meiosis I, [[#Glossary | '''sister chromatids''']] separate during Meiosis II.  If during either stage of Meiosis I or II the homologous chromosomes or sister chromatids, respectively, do not fully separate, a phenomenon can occur called [[#Glossary | '''nondisjunction''']].  Nondisjunction causes an uneven distribution of genetic material to each daughter nuclei.  When an uneven distribution is such that one of the gametes does not have any of a chromosome, it can combine with another normal gamete to create a fertilized egg with only one chromosome as opposed to the normal two that are found in human cells; this is called a [[#Glossary | '''monosomy''']].  When this occurs in the sex chromosomes leaving only a single X chromosome (X0 genotype) Turner Syndrome is created, leaving only 45 chromosomes in the zygote rather than the normal 46.  &lt;br /&gt;
&lt;br /&gt;
[[File:22+23=45.jpg|350px|thumb|left|22 chromosomal egg + 23 chromosomal sperm = 45 chromsomes in zygote instead of normal 46.]]&lt;br /&gt;
Turner Syndrome can also be created by partial monosomy or disjunctions, meaning that although a whole X chromosome is not missing, portions of it are not present or are non-functional, rendering the chromosome useless.  Any disjunction seems to be completely sporadic and have yet to be attributed to any genetic link. The only thing known for sure is that during conception a portion of or the whole second sex chromosome is not conveyed to the zygote.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;7763055&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; Because at least one X chromosome is necessary for vital functions, this condition can only be found in females.&lt;br /&gt;
&lt;br /&gt;
== Clinical Manifestations ==&lt;br /&gt;
&lt;br /&gt;
The following are a list of characteristics and diseases which tend to accompany, be caused by, or be related to Turner Syndrome.  &lt;br /&gt;
&lt;br /&gt;
===Physical Attributes:===&lt;br /&gt;
*congenital malformations (heart, urinary system, face, neck, ears) &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*gonadal dysgenesis (causes estrogen deficiencies, which can cause infertility) &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*increased risk of fractures &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16624607&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low cortical bone mineral density (BMD) &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;/&amp;gt;&lt;br /&gt;
*middle ear infections &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*premature ovarian failure &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*short/reduced stature &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*webbed neck &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;17562588&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Decreased Cognition:===&lt;br /&gt;
*emotion processing difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;20014362&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*increased impulsivity &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;19750135&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low IQ score &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
*nonverbal learning disability (slow math calculations)&amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*social cognition difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*visuoperception/visuoconstruction deficit (identifying and locating is difficult due to poor visual working memory) &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Increased Risk of:===&lt;br /&gt;
*cirrhosis of the liver &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*colon and rectal cancers &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*hypothyroidism &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*inflammatory bowel disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
*morbidity and mortality &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*neurovascular disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*osteoporosis &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*ovarian failure &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*renal and gastrointestinal disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Prone to Develop Autoimmune Conditions:=== &lt;br /&gt;
*alopecia areata &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coeliac disease (CD) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12466343&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*psoriasis &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;/&amp;gt;&lt;br /&gt;
*thyroiditis &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*type 1 diabetes &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Cardiac Abnormalities:===&lt;br /&gt;
(most serious/life threatening medical problems created by Turner Syndrome)&lt;br /&gt;
*absence of portal vein &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16612647&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*aortic dilatation and dissection  &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*arrhythmias &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;17015510&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*arteriosclerosis &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*biscuspid aortic valves &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*coarctation of the aorta &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*hypertension &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*ischemic heart disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*mitral valve prolapsed &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== Diagnostic Procedures ==&lt;br /&gt;
&lt;br /&gt;
===Diagnostic Definition===&lt;br /&gt;
&lt;br /&gt;
[[File:Turner Syndrome X Chromosome Variations.jpg|thumb|right|Variations of the Second X Chromosome in Turner Syndrome]]&lt;br /&gt;
Turner syndrome is diagnosed through both an evaluation of physical features and by analysis of the second sex chromosome. The two criteria must be met for classification of Turner syndrome, an abnormality in the second sex chromosome must be found and the abnormality must be found to be expressed somehow in the individual's traits. Hence if physical characteristics are not present even when the cytogenetic criterion is met the patient is not diagnosed as having Turner syndrome.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; In Turner syndrome the second sex chromosome is either:&lt;br /&gt;
&lt;br /&gt;
*Completely absent (45,X)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Partially absent&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Forms an isochromosome (isoXq), possessing a long arm duplication (q) and being devoid of a short arm (p)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*In a ring formation (rX)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref name=&amp;quot;PMID1511250&amp;quot;/&amp;gt;&lt;br /&gt;
*Is devoid of the homeobox gene, [[#Glossary | '''SHOX''']] (short stature homeobox), the deletion being prior to the junction between Xp22.2 and Xp22.3&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
Any of these variations of the second sex chromosome may occur with or without cell line [[#Glossary | '''mosaicism''']].&lt;br /&gt;
Turner syndrome may be diagnosed prenatally or postnatally, using this genetic diagnostic definition coupled with an appropriate phenotypic evaluation of the individual, as outlined below.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Prenatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
The prenatal diagnostic tool for Turner syndrome is karyotype screening and testing for phenotype abnormalities. If Turner syndrome is diagnosed prenatally, karyotype screening and an evaluation of the individual's traits should be conducted again postnatally for confirmation of this diagnosis. Turner syndrome is frequently diagnosed after karyotype screening during [[#Glossary | '''chorionic villous sampling''']] or [[#Glossary | '''amniocentesis''']].&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
The table below outlines various prenatal tests conducted and the indications that may be present in babies with Turner syndrome. Although these techniques and the indications they reveal may highlight Turner syndrome signs, they should not be used as sole diagnostic tools.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Technique'''&lt;br /&gt;
| '''Turner syndrome indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Ultrasound'''&lt;br /&gt;
|&lt;br /&gt;
*Increased nuchal translucency &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Cystic hygroma''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Coarctation''']] of the aorta &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Left-sided cardiac defects &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Brachycephaly''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Renal anomalies &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Polyhydramnios''']] &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Oligohydramnios''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Growth retardation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;10599686&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Turner Syndrome Test Showing Nuchal Translucency.gif|none|thumb|400px|Figure 2: Ultrasound Test Showing Nuchal Translucency.]]&lt;br /&gt;
[[File:Turner Syndrome Test Showing Cystic Hygroma.gif|none|thumb|400px|Figure 3: Ultrasound Test Showing Cystic Hygroma.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Maternal serum screening'''&lt;br /&gt;
|&lt;br /&gt;
*Abnormal [[#Glossary | '''α-fetoprotein''']] levels &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary | '''inhibin A''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary | '''hCG''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal unconjugated [[#Glossary | '''estriol''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
|[[File: TurnerSyndromeMaternalSerumSampling.jpg|none|thumb|400px|Figure 4: Maternal Serum Sampling.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
===Postnatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
In postnatal diagnosis, [[#Glossary | '''karyotype''']] investigation is undertaken for the individual. When a female presents with the following clinical findings, explained in table below, it is recommended that chromosomal analysis is undertaken, so that Turner syndrome may be eliminated&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;:&lt;br /&gt;
{|sstyle= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Age'''&lt;br /&gt;
| '''Phenotypic manifestations/indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Baby/infant'''&lt;br /&gt;
|&lt;br /&gt;
*Oedema of the hands or feet&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Nuchal folds &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Cardiac abnormalities for example aortic dilation, bicuspid aortic valve and aortic coarctation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Low hairline &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Low set ears &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Small mandible &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Gonadal dysgenesis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Child'''&lt;br /&gt;
| &lt;br /&gt;
*Short stature with low growth velocity &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Cubitus valgus''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Nail [[#Glossary | '''hypoplasia''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Hyperconvex uplifted nails &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Multiple pigmented benign birthmarks/moles &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Characteristic faecies &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Short fourth metacarpal &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*High arched palate &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Extensive and chronic inflammation/infection of the ear &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Hearing loss &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 4 year old child.jpg|left|thumb|150px|Figure 5: Four-year-old girl with Turner's syndrome. Note somewhat broad chest, prominent ears and ptosis, but otherwise normal proportion. There is no pronounced neck webbing or edema.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Adolescent/Adult'''&lt;br /&gt;
|&lt;br /&gt;
*Absence of breast development by 13 yr of age &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Pubertal arrest &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Primary or secondary amenorrhoea&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Unexplained short stature &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Renal abnormalities &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Immune disorders &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 35 year old woman.jpg|none|thumb|150px|Figure 6: A Thirtyfive-year-old woman with Turner's syndrome. Note increased carrying angle of arms, broad flat chest and sexual infantilism, but the lack of pronounced neck webbing or peripheral edema.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Since an absence of the physical signs of puberty and/or growth failure are often seen as normal variations in the population, these possible indications/symptoms of Turner syndrome may not be further investigated by many clinicians.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20361125&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; When karyotyping in order to exclude natural cell variation, a sufficient number of cells should be assessed. Whilst a sample of blood will often reveal Turner syndrome, an evaluation of a second tissue sample like the skin is recommend.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
[[#Glossary | '''DNA hybridisation''']] or [[#Glossary | '''fluorescent in situ hybridisation''']] should be conducted using a Y centromeric or short arm probe to detect for any additional Y or X chromosomal material.&lt;br /&gt;
If there is any of the Y chromosome present, this may initiate [[#Glossary | '''gonadoblastoma''']] development, another primary indicator of Turner syndrome. Hence the individual should have both a vaginal [[#Glossary | '''ultrasonograph''']] and colour [[#Glossary | '''Doppler sonograph''']] of their gonads to detect whether any Y chromosome fragments are present. These tests should be repeated regularly to monitor the patient for any malignancy, if a gonadectomy is not undertaken.&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== Treatment ==&lt;br /&gt;
&lt;br /&gt;
=== Cardiac Treatment ===&lt;br /&gt;
&lt;br /&gt;
When patients are confirmed with Turner Syndrome, it is necessary to have a full cardiac evaulation including a physical exam and a echocardiogram. If cardiac abnormalities are found, monitoring by a cardiologist is recommended including regular blood pressure checks&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  Coarctation of the aorta and hypoplastic left heart are quite often very serious issues are need to be dealt with surgically&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
If no abnormalities are found, blood pressure in Turner Syndrome patients is still routinely checked and a follow up cardiac evaulation is recommended for girls around the age of puberty (12-15)&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Speech ===&lt;br /&gt;
&lt;br /&gt;
Many Turner Syndrome patients have trouble with their speech. It is necessary for them to be refered to an Ear, Nose and Throat specialist and to a speech therapist to work on improve any speech problems&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Management of Puberty and Growth ===&lt;br /&gt;
The main treatment for growth and pubertal development is Hormone Replacement Therapy. Growth Hormone is adminstered to girls with abnormal growth, resulting in postive growth that is consistent with the expected height of the patient. It is adminstered as early as 2 years of age, but more often in the age group of 9-12 which is in line with the growth spurt that occurs during puberty&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Natural estrogen and progesterone are administered to girls when they reach the age of puberty in early adolescence. The age at which this treatment commences varies between individuals, as does the dosage. The adminsteration of estrogen will begin the process of puberty in girls affected by Turner Syndrome and it is important that this begins around the same time as her peers&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. The use of estrogen is often held off if the patient is also undergoing GH treatment so that maximum growth can be achieved, as estrogen will induce the fusion of the epiphyses and limit longitudinal bone growth&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Around 10% of nonmosaic and 20% of mosaic women with Turner’s will have spontaneous menses (periods) and may not need to undergo Hormone Replacement to initiate puberty. Around 2-5% of these women will have the potential to fall pregnant naturally&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
=== Appearance ===&lt;br /&gt;
&lt;br /&gt;
Extreme neck webbing maybe worrying or uncomfortable to women with Turner’s and in some cases plastic surgery is undertaken to fix this problem. Also if convex gorwth of toenails occurs, surgery is conducted so that the woman can wear normal shoes&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Ongoing Adult Treatment ===&lt;br /&gt;
&lt;br /&gt;
Closely monitoring the health of Turner Syndrome adults is vital in the reduction of morbidity and mortality. An annual physical evalution should be undertaken which includes, blood pressure, heart auscultation, thyroid function, breast exam, and pap smear&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  &lt;br /&gt;
&lt;br /&gt;
Particular attention needs to be taken in the area of weight and obesity in Turner Syndrome women due to their high risk of developing diabetes, osteoporosis and hypertension. Patients are to be encouraged to have a healthy lifestyle including healthy eating and exercise&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Research ==&lt;br /&gt;
&lt;br /&gt;
===Current research===&lt;br /&gt;
&lt;br /&gt;
Since there is no preventative or cure, currently mainly research is being conducted into the areas of symptoms, possible treatments and risks involved with Turner syndrome.&lt;br /&gt;
&lt;br /&gt;
'''Growth hormone therapy in Turner syndrome: its affect on height, weight and stature.'''&lt;br /&gt;
*'''Growth hormone effect on body composition in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21720878&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research findings from this paper conclude that people with Turner syndrome have lower height, higher BMI and higher proportional sitting height and leg length than that of the normal population, no matter whether they undergo hormone replacement therapy or not.&lt;br /&gt;
*'''Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21619701&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study has concluded that all adults with Turner syndrome had a similar quality of life regardless of whether they have a higher stature due to undergoing growth hormone replacement therapy or not. It was hypothesised that height differences did not affect quality of life as the individuals seemed to adapt to their own life challenges.&lt;br /&gt;
*'''Growth hormone treatment for Turner syndrome in Australia reveals that younger age and increased dose interact to improve response.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21375553&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research from this study found that growth hormone therapy works most optimally if given earlier in life and at a high dose in the first year of treatment.&lt;br /&gt;
*'''Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21398400&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: Another study which confers that the early introduction of growth hormone therapy is most efficacious. However the individual's glucose metabolism should be monitored as the hormones may affect glucose tolerance transiently.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Oestrogen hormone replacement therapy in Turner syndrome: the adequate dosage and its effect on uterine development, breast development, bone mineral density and sexual characteristics.'''&lt;br /&gt;
*'''Growth hormone plus childhood low-dose estrogen in Turner's syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21449786&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study indicates that undergoing both growth hormone and oestrogen therapy together may help increase the efficacy of each (increasing growth in height and pubertal development) more than when they act alone. &lt;br /&gt;
*'''Estrogen requirements in girls with Turner syndrome; how low is enough for initiating puberty and uterine development?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21793702&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study assessed the minimal dosage of estrogen that is required to bring about desired pubertal development in girls with Turner syndrome.&lt;br /&gt;
*'''Puberty induction in Turner syndrome: results of oestrogen treatment on development of secondary sexual characteristics, uterine dimensions and serum hormone levels.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19200215&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: It was found that uterus of women with Turner syndrome who had undergone oestrogen was underdeveloped, however the exact cause of this needs to be further researched.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Pregnancy and Turner syndrome: evaluation and treatment of risks involved with pregnancy for: the mothers of Turner syndrome babies, for individuals with Turner syndrome and for the babies of individuals with Turner syndrome.'''&lt;br /&gt;
*'''Familial occurrence of Turner syndrome: casual event or increased risk?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21648298&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research examined whether there is a higher probability of having a second child with Turner syndrome and concluded that there is evidence in the small cohort that they used of a greater probability. It is suggested that a larger study be conducted to look further into these findings.that &lt;br /&gt;
*'''Obstetric Outcomes in Women with Turner Karyotype.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21865365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: In this study it was found that women with Turner syndrome had shorter pregnancies than that of a control group, but no other marked difference was observed between the groups.&lt;br /&gt;
*'''Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21496813&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This paper examined a number of pregnant women with Turner syndrome, some who incidentally went through puberty even though they had no hormone replacement therapy and another group that had undertaken hormone replacement therapy. Though there were not many complications in either group, the groups were small in number and one mother did have cardiovascular difficulties later on in life. Hence a thorough examination of pregnant Turner syndrome women should be conducted prior to conception.&lt;br /&gt;
*'''Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20923275&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This article assessed the prognosis of pregnant women with Turner syndrome. They concluded that spontaneous pregnancy increases the risk of the baby having phenotypic and chromosomal abnormalities compared with women having assisted reproductive therapies.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Future research=== &lt;br /&gt;
&lt;br /&gt;
Future research needs to be conducted in the following areas: to follow up on the suggestions given in the conclusions of current research papers as outlined in the prior section and also into how the care system is functioning for Turner syndrome individuals as outlined below.&lt;br /&gt;
&lt;br /&gt;
*'''Medical Care of Girls with Turner Syndrome: Where are we Lacking?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21454226&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research found that a large proportion (&amp;gt;50%) of people with Turner syndrome are not given adequate information upon diagnosis or screenings for complications and symptoms. Therefore it is suggested in order to rectify this issue that more education should be given to physicians on the syndrome&lt;br /&gt;
*'''Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21752892&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; and '''Turner's syndrome requires multidisciplinary approach.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19514616&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: These article evaluate the need for a multidisciplinary approach to treatment of Turner syndrome. Since the symptoms can be wide ranging and severe, it is difficult but necessary for all of them to be examined in each individual. Hence a greater care plan for individuals should be implemented upon diagnosis.&lt;br /&gt;
&lt;br /&gt;
== Glossary ==&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Alpha-fetoprotein''' is a protein with an unknown function. It makes up, up to one third of the protein serum levels found in the second trimester of pregnancy and in neural tube defects, these alpha-fetoprotein levels are elevated. &amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Amniocentesis''' is a prenatal diagnostic tool. The procedure involves the sampling of amniotic fluid from the amniotic sac using a syringe, that is then tested for a number of abnormalities. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Brachycephaly''' is a condition where the coronal suture of the skull fuses prematurely. Since the skull is unable to expand any further in the anterior-posterior directions due to this closure, it grows to an abnormal size in in the lateral dimension.&amp;lt;ref&amp;gt;Flint, P 2010, ''Flint: Cummings Otolaryngology: Head &amp;amp; Neck Surgery, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-323-05283-2..00186-5--s0045&amp;amp;isbn=978-0-323-05283-2&amp;amp;uniqId=282726024-5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Coarctation''' of the aorta is an abnormality where the aorta is constricted at one or various sections. This can be caused by genetic and/or environmental factors.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Chorionic villous sampling''' is a prenatal diagnostic tool which can be used from 7 weeks after fertilisation. It is used to test for a number of chromosomal abnormalities including X-linked and metabolic disorders.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Cystic hygroma''' is a prenatal abnormality where fluid builds up in the posterior portion of the neck. The body may or may not relieve itself naturally of this accumulation of fluid after birth. &amp;lt;ref&amp;gt;Gabbe, S 2007, ''Gabbe: Obstetrics: Normal and Problem Pregnancies, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-443-06930-7..50011-6--cesec51&amp;amp;isbn=978-0-443-06930-7&amp;amp;uniqId=282726024-10&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''DNA-DNA hybridisation''' is a technique used to compare the similarities and differences between two sets of genes.&amp;lt;ref&amp;gt;Long, S 2009, ''Bradley: Neurology in Clinical Practice, 5th ed.Long: Principles and Practice of Pediatric Infectious Diseases Revised Reprint, 3rd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X&amp;amp;isbn=978-0-7020-3468-8&amp;amp;uniqId=282726024-19#4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Doppler sonography''' uses the doppler effect to help image and measure blood flow pattern in the patient.&amp;lt;ref&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Estriol''' is a hormone that is produced in greater amounts during pregnancy especially in the second and third trimester. One of its main functions is to assist with blood flow in the placenta and uterus.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Gametes''' are reproductive (sex) cells (ie: eggs and sperm) that can unite to form a new cell called a zygote. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6&amp;amp;isbn=978-0-443-06811-9&amp;amp;uniqId=283289096-4#4-u1.0-B978-0-443-06811-9..10001-6--b0020&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Gonadoblastoma''' is an abnormal proliferation of gonadal cells, that may or may not be malignant.&amp;lt;ref&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Haploid''' is the status of a cell having only a single set of unpaired chromosomes, or half the number of chromosomes contained in typical body cells. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10019-3--sec5&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208594256&amp;amp;uniqId=283289096-7#4-u1.0-B978-0-443-06811-9..10019-3--sec5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''hCG''' is the abbreviation for human chorionic gonadotropin. It is a hormone that functions in the early stage of pregnancy to maintain the blood supply to the corpus luteum.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Homologous chromosomes''' are pairs of chromosomes, one each obtained from maternal and paternal gametes.  46 total chromosome complements are within an organism, 22 pairs of which are homologous chromosomes (called autosomes); the other 2 chromosomes are the sex chromosomes. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6--sec7&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208599219&amp;amp;uniqId=283289096-10#4-u1.0-B978-0-443-06811-9..10001-6--sec9&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
'''Hypoplasia''' is when an organ or tissue is not completely developed.&amp;lt;ref&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Inhibin A''' is a peptide produced by the ovaries and acts to restrain the production of follicle-stimulating hormone.&amp;lt;ref&amp;gt;Melmed, S 2011, ''Melmed: Williams Textbook of Endocrinology, 12th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0324-5..00045-6&amp;amp;isbn=978-1-4377-0324-5&amp;amp;uniqId=282726024-25 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Karyotype''' is an individual's set of chromosomes, both their number and appearance.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Meiosis''' is the specific process of cell division within sex cells which halves the number of chromosomes in the cells through via two cell divisions; this is specific to germ cells only, creating haploid gametes (sex cells) from diploid cells. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
'''Monosomy''' is a condition wherein a specific chromosome is completely missing within one gamete that combines with a normal gamete to form a zygote; a chromosome has no homologue, or matching chromosome, to pair with. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6--sec15&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208595822&amp;amp;uniqId=283289096-8#4-u1.0-B978-0-443-06811-9..10001-6--sec41&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Mosaicism''' is when a particular type or all cells of an individual do not have the same genetic makeup. This is caused by a mutation during embryonic cell division.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Nondisjunction''' is the failure of chromosome pairs to separate entirely during either stage of Meiosis. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec27&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--spara33&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Oligohydramnios''' is a prenatal condition, where there is an insufficient amount of amniotic fluid.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Polyhydramnios''' is a prenatal condition, where there is an excessive amount of amniotic fluid.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Random assortment'''&lt;br /&gt;
&lt;br /&gt;
'''Recombination''' is the process which by genetic material is crossed over and switched between two segments of DNA which adds to the genetic diversity of the genome.&lt;br /&gt;
&lt;br /&gt;
'''SHOX gene''' is the short stature homeobox gene, that when deficient frequently results in short stature.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Sister chromatids'''&lt;br /&gt;
&lt;br /&gt;
'''Ultrasonography''' is a medical technique that employs ultrasound frequencies to visualise a patient's internal bodily structure.&amp;lt;ref&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== References ==&lt;br /&gt;
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		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=73768</id>
		<title>2011 Group Project 1</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=73768"/>
		<updated>2011-09-30T11:15:17Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: /* Postnatal Diagnosis */&lt;/p&gt;
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== Turner Syndrome ==&lt;br /&gt;
&lt;br /&gt;
--[[User:S8600021|Mark Hill]] 10:44, 8 September 2011 (EST) Some of the existing sub-sections have appropriate content, but there are also empty sub-sections, a total lack of referencing/citation and no glossary. &lt;br /&gt;
* The referencing issue needs urgent  progress.&lt;br /&gt;
* Existing figures/table are appropriate. Table appears to be directly used from an uncited source.&lt;br /&gt;
* There needs to be more images in this work.&lt;br /&gt;
* Where is the student drawn figure?&lt;br /&gt;
* Read http://embryology.med.unsw.edu.au/embryology/index.php?title=Help:Reference_Tutorial#Multiple%20Instances%20on%20Page&lt;br /&gt;
&lt;br /&gt;
== Introduction ==&lt;br /&gt;
&lt;br /&gt;
Turner syndrome, named after Henry Hubert Turner who first described the syndrome in his paper in 1938,&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;4557013&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; is one of the most commonly occuring chromosomal disorders. It is caused by complete or partial X monosomy in some or all cells and occurs in approximately 1 in 2000 live female births, however the morbidity rate of spontaneous abortions is 10% and only about 1% of fetuses survive to term. &lt;br /&gt;
&lt;br /&gt;
During normal fetal development, each ovary contain as many as 7 million oocytes. The oocytes gradually reduced to 400,000 during menarche and during menopause fewer than 10,000 remains. However, in Turner syndrome, the ovaries develop normally during embryogenesis but the absence of the second X chromosome leads to an accelerated loss of oocytes, which is complete by the time the infant, is aged 2. Genetically menopause occurs before menarche and the ovaries are reduced to atrophic fibrous strands, devoid of ova and follicles (streak ovaries). Development of somatic (nongonadal) tissues that reside on the missing/abnormal X chromosome are also severely affected. For example short stature is caused by a deletion of the Xp chromosome and the deletion of Xq causes gonadal dysfunction &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt; 6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
 &lt;br /&gt;
The most frequent clinical feature is short stature and gonadal dysgenesis. Other features may include coarctation of the aorta, renal anomalies, neck webbing, and lymphoedema. The affected organ systems and tissues may are effected to a lesser or greater extent amongst that are affected by turner syndrome. Each person who has turner syndrome all vary in their clinical phenotype. In recent years there has been increased interest in Turner Syndrome due to the introduction of growth hormone treatment. There has been marked improvement in the understanding of this condition as advances in molecular genetic techniques occur. However, there still further research to be completed. A multidisciplinary approach to treatment is important to improve the quality of life of girls with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
 &lt;br /&gt;
[[File:Karyotype.jpg|200px|thumb|left|The arrow indicates the presence of only one X chromosome in Karyotype]]&lt;br /&gt;
&lt;br /&gt;
== Epidemiology ==&lt;br /&gt;
&lt;br /&gt;
Turner Syndrome affects about 1 in 2000 live-born females. There are three types of karyotypic abnormalities but the most frequently seen is where the entire X chromosome is missing resulting in 45 X karyotype. The remaining third have structural abnormalities of the X chromosomes, and two thirds are mosaics. Whereby, the maternal X is retained in two-thirds of women and the paternal X in the remainder.&lt;br /&gt;
The phenotype of Turner Syndrome is varies but it involves anomalies of the sex chromosome. It could be caused by the limited amount of genetic material in these abnormal chromosomes. Turner Syndrome can be transmitted from mother to daughter, and thus can it could be described as a heredity linked syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The loss of one of the sex chromosomes of turner syndrome occurs after the zygote has formed or just after the fusion of the gametes. In 70-80% of cases the retained X is from the mother. In such circumstances has lead to the different phenotypic expression of the genes present on the X chromosome depending upon if it came from the mother or father. &lt;br /&gt;
The morphological differences from those retaining the maternal compared to retaining the paternal X is have shown to have a greater incidence of cardiovascular anomalies and neck webbing. &lt;br /&gt;
The missing sex chromosome could be either an X or a Y. This has clinical implications because if the Y material is present there is a risk of up to 30% of gonadoblastoma developing in the dysgenetic gonads. This is because the 'gonadoblastoma locus' is on the Y chromosome which is believed to be situated on the long arm of the Y just below the centromere.&lt;br /&gt;
Another factor affecting the phenotype in Turner syndrome is the inactivation of the abnormal X chromosomes. In a normal fetus there should be only one X chromosome that is active in each cell &amp;lt;ref&amp;gt;Wade, Nicholas (2009-09-15). '''&amp;quot;New Clues to Sex Anomalies in How Y Chromosomes Are Copied&amp;quot;'''. The New York Times. Retrieved 2010-05-26. http://www.nytimes.com/2009/09/15/science/15chrom.html?pagewanted=1&amp;amp;_r=1&amp;amp;hpw&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
[[File:Stats abnormal.jpg]]  &lt;br /&gt;
&lt;br /&gt;
Abnormalities associated with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Etiology ==&lt;br /&gt;
[[File:nondisjunction.jpg|850px|thumb|right|alt text|This figure shows the progeny created from normal disjunction (A), and non-disjunction during both Meiosis I (B) and Meiosis II (C).]]&lt;br /&gt;
&lt;br /&gt;
Causation of Turner Syndrome (TS) can be traced back to the stages of sex-cell development.  When sex cells divide through a process called [[#Glossary | '''meiosis''']] to create [[#Glossary | '''gametes''']], either a [[#Glossary | '''haploid''']] egg (for females) or sperm (for males) two divisions occur, Meiosis I and Meiosis II.  Meiosis is the main process which helps create the vast genetic diversity within all populations by allowing [[#Glossary | '''recombination''']] and [[#Glossary | '''random assortment''']].  During Meiosis I [[#Glossary | '''homologous chromosomes''']] are separated; following Meiosis I, [[#Glossary | '''sister chromatids''']] separate during Meiosis II.  If during either stage of Meiosis I or II the homologous chromosomes or sister chromatids, respectively, do not fully separate, a phenomenon can occur called [[#Glossary | '''nondisjunction''']].  Nondisjunction causes an uneven distribution of genetic material to each daughter nuclei.  When an uneven distribution is such that one of the gametes does not have any of a chromosome, it can combine with another normal gamete to create a fertilized egg with only one chromosome as opposed to the normal two that are found in human cells; this is called a [[#Glossary | '''monosomy''']].  When this occurs in the sex chromosomes leaving only a single X chromosome (X0 genotype) Turner Syndrome is created, leaving only 45 chromosomes in the zygote rather than the normal 46.  &lt;br /&gt;
&lt;br /&gt;
[[File:22+23=45.jpg|350px|thumb|left|22 chromosomal egg + 23 chromosomal sperm = 45 chromsomes in zygote instead of normal 46.]]&lt;br /&gt;
Turner Syndrome can also be created by partial monosomy or disjunctions, meaning that although a whole X chromosome is not missing, portions of it are not present or are non-functional, rendering the chromosome useless.  Any disjunction seems to be completely sporadic and have yet to be attributed to any genetic link. The only thing known for sure is that during conception a portion of or the whole second sex chromosome is not conveyed to the zygote.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;7763055&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; Because at least one X chromosome is necessary for vital functions, this condition can only be found in females.&lt;br /&gt;
&lt;br /&gt;
== Clinical Manifestations ==&lt;br /&gt;
&lt;br /&gt;
The following are a list of characteristics and diseases which tend to accompany, be caused by, or be related to Turner Syndrome.  &lt;br /&gt;
&lt;br /&gt;
===Physical Attributes:===&lt;br /&gt;
*congenital malformations (heart, urinary system, face, neck, ears) &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*gonadal dysgenesis (causes estrogen deficiencies, which can cause infertility) &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*increased risk of fractures &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16624607&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low cortical bone mineral density (BMD) &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;/&amp;gt;&lt;br /&gt;
*middle ear infections &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*premature ovarian failure &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*short/reduced stature &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*webbed neck &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;17562588&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Decreased Cognition:===&lt;br /&gt;
*emotion processing difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;20014362&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*increased impulsivity &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;19750135&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low IQ score &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
*nonverbal learning disability (slow math calculations)&amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*social cognition difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*visuoperception/visuoconstruction deficit (identifying and locating is difficult due to poor visual working memory) &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Increased Risk of:===&lt;br /&gt;
*cirrhosis of the liver &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*colon and rectal cancers &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*hypothyroidism &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*inflammatory bowel disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
*morbidity and mortality &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*neurovascular disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*osteoporosis &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*ovarian failure &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*renal and gastrointestinal disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Prone to Develop Autoimmune Conditions:=== &lt;br /&gt;
*alopecia areata &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coeliac disease (CD) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12466343&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*psoriasis &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;/&amp;gt;&lt;br /&gt;
*thyroiditis &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*type 1 diabetes &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Cardiac Abnormalities:===&lt;br /&gt;
(most serious/life threatening medical problems created by Turner Syndrome)&lt;br /&gt;
*absence of portal vein &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16612647&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*aortic dilatation and dissection  &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*arrhythmias &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;17015510&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*arteriosclerosis &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*biscuspid aortic valves &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*coarctation of the aorta &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*hypertension &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*ischemic heart disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*mitral valve prolapsed &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== Diagnostic Procedures ==&lt;br /&gt;
&lt;br /&gt;
===Diagnostic Definition===&lt;br /&gt;
&lt;br /&gt;
[[File:Turner Syndrome X Chromosome Variations.jpg|thumb|right|Variations of the Second X Chromosome in Turner Syndrome]]&lt;br /&gt;
Turner syndrome is diagnosed through both an evaluation of physical features and by analysis of the second sex chromosome. The two criteria must be met for classification of Turner syndrome, an abnormality in the second sex chromosome must be found and the abnormality must be found to be expressed somehow in the individual's traits. Hence if physical characteristics are not present even when the cytogenetic criterion is met the patient is not diagnosed as having Turner syndrome.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; In Turner syndrome the second sex chromosome is either:&lt;br /&gt;
&lt;br /&gt;
*Completely absent (45,X)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Partially absent&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Forms an isochromosome (isoXq), possessing a long arm duplication (q) and being devoid of a short arm (p)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*In a ring formation (rX)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Is devoid of the homeobox gene, [[#Glossary | '''SHOX''']] (short stature homeobox), the deletion being prior to the junction between Xp22.2 and Xp22.3&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
Any of these variations of the second sex chromosome may occur with or without cell line [[#Glossary | '''mosaicism''']].&lt;br /&gt;
Turner syndrome may be diagnosed prenatally or postnatally, using this genetic diagnostic definition coupled with an appropriate phenotypic evaluation of the individual, as outlined below.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Prenatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
The prenatal diagnostic tool for Turner syndrome is karyotype screening and testing for phenotype abnormalities. If Turner syndrome is diagnosed prenatally, karyotype screening and an evaluation of the individual's traits should be conducted again postnatally for confirmation of this diagnosis. Turner syndrome is frequently diagnosed after karyotype screening during [[#Glossary | '''chorionic villous sampling''']] or [[#Glossary | '''amniocentesis''']].&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
The table below outlines various prenatal tests conducted and the indications that may be present in babies with Turner syndrome. Although these techniques and the indications they reveal may highlight Turner syndrome signs, they should not be used as sole diagnostic tools.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Technique'''&lt;br /&gt;
| '''Turner syndrome indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Ultrasound'''&lt;br /&gt;
|&lt;br /&gt;
*Increased nuchal translucency &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Cystic hygroma''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Coarctation''']] of the aorta &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Left-sided cardiac defects &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Brachycephaly''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Renal anomalies &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Polyhydramnios''']] &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Oligohydramnios''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Growth retardation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;10599686&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Turner Syndrome Test Showing Nuchal Translucency.gif|none|thumb|400px|Figure 2: Ultrasound Test Showing Nuchal Translucency.]]&lt;br /&gt;
[[File:Turner Syndrome Test Showing Cystic Hygroma.gif|none|thumb|400px|Figure 3: Ultrasound Test Showing Cystic Hygroma.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Maternal serum screening'''&lt;br /&gt;
|&lt;br /&gt;
*Abnormal [[#Glossary | '''α-fetoprotein''']] levels &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary | '''inhibin A''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary | '''hCG''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal unconjugated [[#Glossary | '''estriol''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
|[[File: TurnerSyndromeMaternalSerumSampling.jpg|none|thumb|400px|Figure 4: Maternal Serum Sampling.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
===Postnatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
In postnatal diagnosis, [[#Glossary | '''karyotype''']] investigation is undertaken for the individual. When a female presents with the following clinical findings, explained in table below, it is recommended that chromosomal analysis is undertaken, so that Turner syndrome may be eliminated&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;:&lt;br /&gt;
{|sstyle= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Age'''&lt;br /&gt;
| '''Phenotypic manifestations/indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Baby/infant'''&lt;br /&gt;
|&lt;br /&gt;
*Oedema of the hands or feet&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Nuchal folds &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Cardiac abnormalities for example aortic dilation, bicuspid aortic valve and aortic coarctation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Low hairline &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Low set ears &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Small mandible &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Gonadal dysgenesis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Child'''&lt;br /&gt;
| &lt;br /&gt;
*Short stature with low growth velocity &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Cubitus valgus''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Nail [[#Glossary | '''hypoplasia''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Hyperconvex uplifted nails &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Multiple pigmented benign birthmarks/moles &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Characteristic faecies &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Short fourth metacarpal &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*High arched palate &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Extensive and chronic inflammation/infection of the ear &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Hearing loss &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 4 year old child.jpg|left|thumb|150px|Figure 5: Four-year-old girl with Turner's syndrome. Note somewhat broad chest, prominent ears and ptosis, but otherwise normal proportion. There is no pronounced neck webbing or edema.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Adolescent/Adult'''&lt;br /&gt;
|&lt;br /&gt;
*Absence of breast development by 13 yr of age &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Pubertal arrest &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Primary or secondary amenorrhoea&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Unexplained short stature &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Renal abnormalities &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*Immune disorders &amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 35 year old woman.jpg|none|thumb|150px|Figure 6: A Thirtyfive-year-old woman with Turner's syndrome. Note increased carrying angle of arms, broad flat chest and sexual infantilism, but the lack of pronounced neck webbing or peripheral edema.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Since an absence of the physical signs of puberty and/or growth failure are often seen as normal variations in the population, these possible indications/symptoms of Turner syndrome may not be further investigated by many clinicians.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20361125&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; When karyotyping in order to exclude natural cell variation, a sufficient number of cells should be assessed. Whilst a sample of blood will often reveal Turner syndrome, an evaluation of a second tissue sample like the skin is recommend.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
[[#Glossary | '''DNA hybridisation''']] or [[#Glossary | '''fluorescent in situ hybridisation''']] should be conducted using a Y centromeric or short arm probe to detect for any additional Y or X chromosomal material.&lt;br /&gt;
If there is any of the Y chromosome present, this may initiate [[#Glossary | '''gonadoblastoma''']] development, another primary indicator of Turner syndrome. Hence the individual should have both a vaginal [[#Glossary | '''ultrasonograph''']] and colour [[#Glossary | '''Doppler sonograph''']] of their gonads to detect whether any Y chromosome fragments are present. These tests should be repeated regularly to monitor the patient for any malignancy, if a gonadectomy is not undertaken.&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== Treatment ==&lt;br /&gt;
&lt;br /&gt;
=== Cardiac Treatment ===&lt;br /&gt;
&lt;br /&gt;
When patients are confirmed with Turner Syndrome, it is necessary to have a full cardiac evaulation including a physical exam and a echocardiogram. If cardiac abnormalities are found, monitoring by a cardiologist is recommended including regular blood pressure checks&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  Coarctation of the aorta and hypoplastic left heart are quite often very serious issues are need to be dealt with surgically&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
If no abnormalities are found, blood pressure in Turner Syndrome patients is still routinely checked and a follow up cardiac evaulation is recommended for girls around the age of puberty (12-15)&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Speech ===&lt;br /&gt;
&lt;br /&gt;
Many Turner Syndrome patients have trouble with their speech. It is necessary for them to be refered to an Ear, Nose and Throat specialist and to a speech therapist to work on improve any speech problems&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Management of Puberty and Growth ===&lt;br /&gt;
The main treatment for growth and pubertal development is Hormone Replacement Therapy. Growth Hormone is adminstered to girls with abnormal growth, resulting in postive growth that is consistent with the expected height of the patient. It is adminstered as early as 2 years of age, but more often in the age group of 9-12 which is in line with the growth spurt that occurs during puberty&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Natural estrogen and progesterone are administered to girls when they reach the age of puberty in early adolescence. The age at which this treatment commences varies between individuals, as does the dosage. The adminsteration of estrogen will begin the process of puberty in girls affected by Turner Syndrome and it is important that this begins around the same time as her peers&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. The use of estrogen is often held off if the patient is also undergoing GH treatment so that maximum growth can be achieved, as estrogen will induce the fusion of the epiphyses and limit longitudinal bone growth&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Around 10% of nonmosaic and 20% of mosaic women with Turner’s will have spontaneous menses (periods) and may not need to undergo Hormone Replacement to initiate puberty. Around 2-5% of these women will have the potential to fall pregnant naturally&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
=== Appearance ===&lt;br /&gt;
&lt;br /&gt;
Extreme neck webbing maybe worrying or uncomfortable to women with Turner’s and in some cases plastic surgery is undertaken to fix this problem. Also if convex gorwth of toenails occurs, surgery is conducted so that the woman can wear normal shoes&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Ongoing Adult Treatment ===&lt;br /&gt;
&lt;br /&gt;
Closely monitoring the health of Turner Syndrome adults is vital in the reduction of morbidity and mortality. An annual physical evalution should be undertaken which includes, blood pressure, heart auscultation, thyroid function, breast exam, and pap smear&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  &lt;br /&gt;
&lt;br /&gt;
Particular attention needs to be taken in the area of weight and obesity in Turner Syndrome women due to their high risk of developing diabetes, osteoporosis and hypertension. Patients are to be encouraged to have a healthy lifestyle including healthy eating and exercise&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Research ==&lt;br /&gt;
&lt;br /&gt;
===Current research===&lt;br /&gt;
&lt;br /&gt;
Since there is no preventative or cure, currently mainly research is being conducted into the areas of symptoms, possible treatments and risks involved with Turner syndrome.&lt;br /&gt;
&lt;br /&gt;
'''Growth hormone therapy in Turner syndrome: its affect on height, weight and stature.'''&lt;br /&gt;
*'''Growth hormone effect on body composition in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21720878&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research findings from this paper conclude that people with Turner syndrome have lower height, higher BMI and higher proportional sitting height and leg length than that of the normal population, no matter whether they undergo hormone replacement therapy or not.&lt;br /&gt;
*'''Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21619701&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study has concluded that all adults with Turner syndrome had a similar quality of life regardless of whether they have a higher stature due to undergoing growth hormone replacement therapy or not. It was hypothesised that height differences did not affect quality of life as the individuals seemed to adapt to their own life challenges.&lt;br /&gt;
*'''Growth hormone treatment for Turner syndrome in Australia reveals that younger age and increased dose interact to improve response.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21375553&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research from this study found that growth hormone therapy works most optimally if given earlier in life and at a high dose in the first year of treatment.&lt;br /&gt;
*'''Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21398400&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: Another study which confers that the early introduction of growth hormone therapy is most efficacious. However the individual's glucose metabolism should be monitored as the hormones may affect glucose tolerance transiently.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Oestrogen hormone replacement therapy in Turner syndrome: the adequate dosage and its effect on uterine development, breast development, bone mineral density and sexual characteristics.'''&lt;br /&gt;
*'''Growth hormone plus childhood low-dose estrogen in Turner's syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21449786&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study indicates that undergoing both growth hormone and oestrogen therapy together may help increase the efficacy of each (increasing growth in height and pubertal development) more than when they act alone. &lt;br /&gt;
*'''Estrogen requirements in girls with Turner syndrome; how low is enough for initiating puberty and uterine development?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21793702&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study assessed the minimal dosage of estrogen that is required to bring about desired pubertal development in girls with Turner syndrome.&lt;br /&gt;
*'''Puberty induction in Turner syndrome: results of oestrogen treatment on development of secondary sexual characteristics, uterine dimensions and serum hormone levels.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19200215&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: It was found that uterus of women with Turner syndrome who had undergone oestrogen was underdeveloped, however the exact cause of this needs to be further researched.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Pregnancy and Turner syndrome: evaluation and treatment of risks involved with pregnancy for: the mothers of Turner syndrome babies, for individuals with Turner syndrome and for the babies of individuals with Turner syndrome.'''&lt;br /&gt;
*'''Familial occurrence of Turner syndrome: casual event or increased risk?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21648298&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research examined whether there is a higher probability of having a second child with Turner syndrome and concluded that there is evidence in the small cohort that they used of a greater probability. It is suggested that a larger study be conducted to look further into these findings.that &lt;br /&gt;
*'''Obstetric Outcomes in Women with Turner Karyotype.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21865365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: In this study it was found that women with Turner syndrome had shorter pregnancies than that of a control group, but no other marked difference was observed between the groups.&lt;br /&gt;
*'''Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21496813&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This paper examined a number of pregnant women with Turner syndrome, some who incidentally went through puberty even though they had no hormone replacement therapy and another group that had undertaken hormone replacement therapy. Though there were not many complications in either group, the groups were small in number and one mother did have cardiovascular difficulties later on in life. Hence a thorough examination of pregnant Turner syndrome women should be conducted prior to conception.&lt;br /&gt;
*'''Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20923275&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This article assessed the prognosis of pregnant women with Turner syndrome. They concluded that spontaneous pregnancy increases the risk of the baby having phenotypic and chromosomal abnormalities compared with women having assisted reproductive therapies.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Future research=== &lt;br /&gt;
&lt;br /&gt;
Future research needs to be conducted in the following areas: to follow up on the suggestions given in the conclusions of current research papers as outlined in the prior section and also into how the care system is functioning for Turner syndrome individuals as outlined below.&lt;br /&gt;
&lt;br /&gt;
*'''Medical Care of Girls with Turner Syndrome: Where are we Lacking?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21454226&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research found that a large proportion (&amp;gt;50%) of people with Turner syndrome are not given adequate information upon diagnosis or screenings for complications and symptoms. Therefore it is suggested in order to rectify this issue that more education should be given to physicians on the syndrome&lt;br /&gt;
*'''Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21752892&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; and '''Turner's syndrome requires multidisciplinary approach.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19514616&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: These article evaluate the need for a multidisciplinary approach to treatment of Turner syndrome. Since the symptoms can be wide ranging and severe, it is difficult but necessary for all of them to be examined in each individual. Hence a greater care plan for individuals should be implemented upon diagnosis.&lt;br /&gt;
&lt;br /&gt;
== Glossary ==&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Alpha-fetoprotein''' is a protein with an unknown function. It makes up, up to one third of the protein serum levels found in the second trimester of pregnancy and in neural tube defects, these alpha-fetoprotein levels are elevated. &amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Amniocentesis''' is a prenatal diagnostic tool. The procedure involves the sampling of amniotic fluid from the amniotic sac using a syringe, that is then tested for a number of abnormalities. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Brachycephaly''' is a condition where the coronal suture of the skull fuses prematurely. Since the skull is unable to expand any further in the anterior-posterior directions due to this closure, it grows to an abnormal size in in the lateral dimension.&amp;lt;ref&amp;gt;Flint, P 2010, ''Flint: Cummings Otolaryngology: Head &amp;amp; Neck Surgery, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-323-05283-2..00186-5--s0045&amp;amp;isbn=978-0-323-05283-2&amp;amp;uniqId=282726024-5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Coarctation''' of the aorta is an abnormality where the aorta is constricted at one or various sections. This can be caused by genetic and/or environmental factors.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Chorionic villous sampling''' is a prenatal diagnostic tool which can be used from 7 weeks after fertilisation. It is used to test for a number of chromosomal abnormalities including X-linked and metabolic disorders.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Cystic hygroma''' is a prenatal abnormality where fluid builds up in the posterior portion of the neck. The body may or may not relieve itself naturally of this accumulation of fluid after birth. &amp;lt;ref&amp;gt;Gabbe, S 2007, ''Gabbe: Obstetrics: Normal and Problem Pregnancies, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-443-06930-7..50011-6--cesec51&amp;amp;isbn=978-0-443-06930-7&amp;amp;uniqId=282726024-10&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''DNA-DNA hybridisation''' is a technique used to compare the similarities and differences between two sets of genes.&amp;lt;ref&amp;gt;Long, S 2009, ''Bradley: Neurology in Clinical Practice, 5th ed.Long: Principles and Practice of Pediatric Infectious Diseases Revised Reprint, 3rd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X&amp;amp;isbn=978-0-7020-3468-8&amp;amp;uniqId=282726024-19#4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Doppler sonography''' uses the doppler effect to help image and measure blood flow pattern in the patient.&amp;lt;ref&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Estriol''' is a hormone that is produced in greater amounts during pregnancy especially in the second and third trimester. One of its main functions is to assist with blood flow in the placenta and uterus.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Gametes''' are reproductive (sex) cells (ie: eggs and sperm) that can unite to form a new cell called a zygote. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6&amp;amp;isbn=978-0-443-06811-9&amp;amp;uniqId=283289096-4#4-u1.0-B978-0-443-06811-9..10001-6--b0020&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Gonadoblastoma''' is an abnormal proliferation of gonadal cells, that may or may not be malignant.&amp;lt;ref&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Haploid''' is the status of a cell having only a single set of unpaired chromosomes, or half the number of chromosomes contained in typical body cells. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10019-3--sec5&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208594256&amp;amp;uniqId=283289096-7#4-u1.0-B978-0-443-06811-9..10019-3--sec5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''hCG''' is the abbreviation for human chorionic gonadotropin. It is a hormone that functions in the early stage of pregnancy to maintain the blood supply to the corpus luteum.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Homologous chromosomes''' are pairs of chromosomes, one each obtained from maternal and paternal gametes.  46 total chromosome complements are within an organism, 22 pairs of which are homologous chromosomes (called autosomes); the other 2 chromosomes are the sex chromosomes. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6--sec7&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208599219&amp;amp;uniqId=283289096-10#4-u1.0-B978-0-443-06811-9..10001-6--sec9&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
'''Hypoplasia''' is when an organ or tissue is not completely developed.&amp;lt;ref&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Inhibin A''' is a peptide produced by the ovaries and acts to restrain the production of follicle-stimulating hormone.&amp;lt;ref&amp;gt;Melmed, S 2011, ''Melmed: Williams Textbook of Endocrinology, 12th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0324-5..00045-6&amp;amp;isbn=978-1-4377-0324-5&amp;amp;uniqId=282726024-25 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Karyotype''' is an individual's set of chromosomes, both their number and appearance.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Meiosis''' is the specific process of cell division within sex cells which halves the number of chromosomes in the cells through via two cell divisions; this is specific to germ cells only, creating haploid gametes (sex cells) from diploid cells. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
'''Monosomy''' is a condition wherein a specific chromosome is completely missing within one gamete that combines with a normal gamete to form a zygote; a chromosome has no homologue, or matching chromosome, to pair with. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6--sec15&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208595822&amp;amp;uniqId=283289096-8#4-u1.0-B978-0-443-06811-9..10001-6--sec41&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Mosaicism''' is when a particular type or all cells of an individual do not have the same genetic makeup. This is caused by a mutation during embryonic cell division.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Nondisjunction''' is the failure of chromosome pairs to separate entirely during either stage of Meiosis. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec27&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--spara33&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Oligohydramnios''' is a prenatal condition, where there is an insufficient amount of amniotic fluid.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Polyhydramnios''' is a prenatal condition, where there is an excessive amount of amniotic fluid.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Random assortment'''&lt;br /&gt;
&lt;br /&gt;
'''Recombination''' is the process which by genetic material is crossed over and switched between two segments of DNA which adds to the genetic diversity of the genome.&lt;br /&gt;
&lt;br /&gt;
'''SHOX gene''' is the short stature homeobox gene, that when deficient frequently results in short stature.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Sister chromatids'''&lt;br /&gt;
&lt;br /&gt;
'''Ultrasonography''' is a medical technique that employs ultrasound frequencies to visualise a patient's internal bodily structure.&amp;lt;ref&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== References ==&lt;br /&gt;
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&amp;lt;references/&amp;gt;&lt;br /&gt;
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{{2011Projects}}&lt;/div&gt;</summary>
		<author><name>Z3217043</name></author>
	</entry>
	<entry>
		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=73767</id>
		<title>2011 Group Project 1</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=73767"/>
		<updated>2011-09-30T11:11:45Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: /* Diagnostic Definition */&lt;/p&gt;
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&lt;div&gt;{{2011ProjectsMH}}&lt;br /&gt;
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== Turner Syndrome ==&lt;br /&gt;
&lt;br /&gt;
--[[User:S8600021|Mark Hill]] 10:44, 8 September 2011 (EST) Some of the existing sub-sections have appropriate content, but there are also empty sub-sections, a total lack of referencing/citation and no glossary. &lt;br /&gt;
* The referencing issue needs urgent  progress.&lt;br /&gt;
* Existing figures/table are appropriate. Table appears to be directly used from an uncited source.&lt;br /&gt;
* There needs to be more images in this work.&lt;br /&gt;
* Where is the student drawn figure?&lt;br /&gt;
* Read http://embryology.med.unsw.edu.au/embryology/index.php?title=Help:Reference_Tutorial#Multiple%20Instances%20on%20Page&lt;br /&gt;
&lt;br /&gt;
== Introduction ==&lt;br /&gt;
&lt;br /&gt;
Turner syndrome, named after Henry Hubert Turner who first described the syndrome in his paper in 1938,&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;4557013&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; is one of the most commonly occuring chromosomal disorders. It is caused by complete or partial X monosomy in some or all cells and occurs in approximately 1 in 2000 live female births, however the morbidity rate of spontaneous abortions is 10% and only about 1% of fetuses survive to term. &lt;br /&gt;
&lt;br /&gt;
During normal fetal development, each ovary contain as many as 7 million oocytes. The oocytes gradually reduced to 400,000 during menarche and during menopause fewer than 10,000 remains. However, in Turner syndrome, the ovaries develop normally during embryogenesis but the absence of the second X chromosome leads to an accelerated loss of oocytes, which is complete by the time the infant, is aged 2. Genetically menopause occurs before menarche and the ovaries are reduced to atrophic fibrous strands, devoid of ova and follicles (streak ovaries). Development of somatic (nongonadal) tissues that reside on the missing/abnormal X chromosome are also severely affected. For example short stature is caused by a deletion of the Xp chromosome and the deletion of Xq causes gonadal dysfunction &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt; 6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
 &lt;br /&gt;
The most frequent clinical feature is short stature and gonadal dysgenesis. Other features may include coarctation of the aorta, renal anomalies, neck webbing, and lymphoedema. The affected organ systems and tissues may are effected to a lesser or greater extent amongst that are affected by turner syndrome. Each person who has turner syndrome all vary in their clinical phenotype. In recent years there has been increased interest in Turner Syndrome due to the introduction of growth hormone treatment. There has been marked improvement in the understanding of this condition as advances in molecular genetic techniques occur. However, there still further research to be completed. A multidisciplinary approach to treatment is important to improve the quality of life of girls with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
 &lt;br /&gt;
[[File:Karyotype.jpg|200px|thumb|left|The arrow indicates the presence of only one X chromosome in Karyotype]]&lt;br /&gt;
&lt;br /&gt;
== Epidemiology ==&lt;br /&gt;
&lt;br /&gt;
Turner Syndrome affects about 1 in 2000 live-born females. There are three types of karyotypic abnormalities but the most frequently seen is where the entire X chromosome is missing resulting in 45 X karyotype. The remaining third have structural abnormalities of the X chromosomes, and two thirds are mosaics. Whereby, the maternal X is retained in two-thirds of women and the paternal X in the remainder.&lt;br /&gt;
The phenotype of Turner Syndrome is varies but it involves anomalies of the sex chromosome. It could be caused by the limited amount of genetic material in these abnormal chromosomes. Turner Syndrome can be transmitted from mother to daughter, and thus can it could be described as a heredity linked syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The loss of one of the sex chromosomes of turner syndrome occurs after the zygote has formed or just after the fusion of the gametes. In 70-80% of cases the retained X is from the mother. In such circumstances has lead to the different phenotypic expression of the genes present on the X chromosome depending upon if it came from the mother or father. &lt;br /&gt;
The morphological differences from those retaining the maternal compared to retaining the paternal X is have shown to have a greater incidence of cardiovascular anomalies and neck webbing. &lt;br /&gt;
The missing sex chromosome could be either an X or a Y. This has clinical implications because if the Y material is present there is a risk of up to 30% of gonadoblastoma developing in the dysgenetic gonads. This is because the 'gonadoblastoma locus' is on the Y chromosome which is believed to be situated on the long arm of the Y just below the centromere.&lt;br /&gt;
Another factor affecting the phenotype in Turner syndrome is the inactivation of the abnormal X chromosomes. In a normal fetus there should be only one X chromosome that is active in each cell &amp;lt;ref&amp;gt;Wade, Nicholas (2009-09-15). '''&amp;quot;New Clues to Sex Anomalies in How Y Chromosomes Are Copied&amp;quot;'''. The New York Times. Retrieved 2010-05-26. http://www.nytimes.com/2009/09/15/science/15chrom.html?pagewanted=1&amp;amp;_r=1&amp;amp;hpw&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
[[File:Stats abnormal.jpg]]  &lt;br /&gt;
&lt;br /&gt;
Abnormalities associated with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Etiology ==&lt;br /&gt;
[[File:nondisjunction.jpg|850px|thumb|right|alt text|This figure shows the progeny created from normal disjunction (A), and non-disjunction during both Meiosis I (B) and Meiosis II (C).]]&lt;br /&gt;
&lt;br /&gt;
Causation of Turner Syndrome (TS) can be traced back to the stages of sex-cell development.  When sex cells divide through a process called [[#Glossary | '''meiosis''']] to create [[#Glossary | '''gametes''']], either a [[#Glossary | '''haploid''']] egg (for females) or sperm (for males) two divisions occur, Meiosis I and Meiosis II.  Meiosis is the main process which helps create the vast genetic diversity within all populations by allowing [[#Glossary | '''recombination''']] and [[#Glossary | '''random assortment''']].  During Meiosis I [[#Glossary | '''homologous chromosomes''']] are separated; following Meiosis I, [[#Glossary | '''sister chromatids''']] separate during Meiosis II.  If during either stage of Meiosis I or II the homologous chromosomes or sister chromatids, respectively, do not fully separate, a phenomenon can occur called [[#Glossary | '''nondisjunction''']].  Nondisjunction causes an uneven distribution of genetic material to each daughter nuclei.  When an uneven distribution is such that one of the gametes does not have any of a chromosome, it can combine with another normal gamete to create a fertilized egg with only one chromosome as opposed to the normal two that are found in human cells; this is called a [[#Glossary | '''monosomy''']].  When this occurs in the sex chromosomes leaving only a single X chromosome (X0 genotype) Turner Syndrome is created, leaving only 45 chromosomes in the zygote rather than the normal 46.  &lt;br /&gt;
&lt;br /&gt;
[[File:22+23=45.jpg|350px|thumb|left|22 chromosomal egg + 23 chromosomal sperm = 45 chromsomes in zygote instead of normal 46.]]&lt;br /&gt;
Turner Syndrome can also be created by partial monosomy or disjunctions, meaning that although a whole X chromosome is not missing, portions of it are not present or are non-functional, rendering the chromosome useless.  Any disjunction seems to be completely sporadic and have yet to be attributed to any genetic link. The only thing known for sure is that during conception a portion of or the whole second sex chromosome is not conveyed to the zygote.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;7763055&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; Because at least one X chromosome is necessary for vital functions, this condition can only be found in females.&lt;br /&gt;
&lt;br /&gt;
== Clinical Manifestations ==&lt;br /&gt;
&lt;br /&gt;
The following are a list of characteristics and diseases which tend to accompany, be caused by, or be related to Turner Syndrome.  &lt;br /&gt;
&lt;br /&gt;
===Physical Attributes:===&lt;br /&gt;
*congenital malformations (heart, urinary system, face, neck, ears) &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*gonadal dysgenesis (causes estrogen deficiencies, which can cause infertility) &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*increased risk of fractures &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16624607&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low cortical bone mineral density (BMD) &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;/&amp;gt;&lt;br /&gt;
*middle ear infections &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*premature ovarian failure &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*short/reduced stature &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*webbed neck &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;17562588&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Decreased Cognition:===&lt;br /&gt;
*emotion processing difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;20014362&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*increased impulsivity &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;19750135&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low IQ score &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
*nonverbal learning disability (slow math calculations)&amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*social cognition difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*visuoperception/visuoconstruction deficit (identifying and locating is difficult due to poor visual working memory) &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Increased Risk of:===&lt;br /&gt;
*cirrhosis of the liver &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*colon and rectal cancers &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*hypothyroidism &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*inflammatory bowel disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
*morbidity and mortality &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*neurovascular disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*osteoporosis &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*ovarian failure &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*renal and gastrointestinal disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Prone to Develop Autoimmune Conditions:=== &lt;br /&gt;
*alopecia areata &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coeliac disease (CD) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12466343&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*psoriasis &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;/&amp;gt;&lt;br /&gt;
*thyroiditis &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*type 1 diabetes &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Cardiac Abnormalities:===&lt;br /&gt;
(most serious/life threatening medical problems created by Turner Syndrome)&lt;br /&gt;
*absence of portal vein &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16612647&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*aortic dilatation and dissection  &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*arrhythmias &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;17015510&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*arteriosclerosis &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*biscuspid aortic valves &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*coarctation of the aorta &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*hypertension &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*ischemic heart disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*mitral valve prolapsed &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== Diagnostic Procedures ==&lt;br /&gt;
&lt;br /&gt;
===Diagnostic Definition===&lt;br /&gt;
&lt;br /&gt;
[[File:Turner Syndrome X Chromosome Variations.jpg|thumb|right|Variations of the Second X Chromosome in Turner Syndrome]]&lt;br /&gt;
Turner syndrome is diagnosed through both an evaluation of physical features and by analysis of the second sex chromosome. The two criteria must be met for classification of Turner syndrome, an abnormality in the second sex chromosome must be found and the abnormality must be found to be expressed somehow in the individual's traits. Hence if physical characteristics are not present even when the cytogenetic criterion is met the patient is not diagnosed as having Turner syndrome.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; In Turner syndrome the second sex chromosome is either:&lt;br /&gt;
&lt;br /&gt;
*Completely absent (45,X)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Partially absent&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Forms an isochromosome (isoXq), possessing a long arm duplication (q) and being devoid of a short arm (p)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*In a ring formation (rX)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Is devoid of the homeobox gene, [[#Glossary | '''SHOX''']] (short stature homeobox), the deletion being prior to the junction between Xp22.2 and Xp22.3&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
Any of these variations of the second sex chromosome may occur with or without cell line [[#Glossary | '''mosaicism''']].&lt;br /&gt;
Turner syndrome may be diagnosed prenatally or postnatally, using this genetic diagnostic definition coupled with an appropriate phenotypic evaluation of the individual, as outlined below.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Prenatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
The prenatal diagnostic tool for Turner syndrome is karyotype screening and testing for phenotype abnormalities. If Turner syndrome is diagnosed prenatally, karyotype screening and an evaluation of the individual's traits should be conducted again postnatally for confirmation of this diagnosis. Turner syndrome is frequently diagnosed after karyotype screening during [[#Glossary | '''chorionic villous sampling''']] or [[#Glossary | '''amniocentesis''']].&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
The table below outlines various prenatal tests conducted and the indications that may be present in babies with Turner syndrome. Although these techniques and the indications they reveal may highlight Turner syndrome signs, they should not be used as sole diagnostic tools.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Technique'''&lt;br /&gt;
| '''Turner syndrome indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Ultrasound'''&lt;br /&gt;
|&lt;br /&gt;
*Increased nuchal translucency &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Cystic hygroma''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Coarctation''']] of the aorta &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Left-sided cardiac defects &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Brachycephaly''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Renal anomalies &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Polyhydramnios''']] &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Oligohydramnios''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Growth retardation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;10599686&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Turner Syndrome Test Showing Nuchal Translucency.gif|none|thumb|400px|Figure 2: Ultrasound Test Showing Nuchal Translucency.]]&lt;br /&gt;
[[File:Turner Syndrome Test Showing Cystic Hygroma.gif|none|thumb|400px|Figure 3: Ultrasound Test Showing Cystic Hygroma.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Maternal serum screening'''&lt;br /&gt;
|&lt;br /&gt;
*Abnormal [[#Glossary | '''α-fetoprotein''']] levels &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary | '''inhibin A''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary | '''hCG''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal unconjugated [[#Glossary | '''estriol''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
|[[File: TurnerSyndromeMaternalSerumSampling.jpg|none|thumb|400px|Figure 4: Maternal Serum Sampling.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
===Postnatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
In postnatal diagnosis, [[#Glossary | '''karyotype''']] investigation is undertaken for the individual. When a female presents with the following clinical findings, explained in table below, it is recommended that chromosomal analysis is undertaken, so that Turner syndrome may be eliminated&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;:&lt;br /&gt;
{|sstyle= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Age'''&lt;br /&gt;
| '''Phenotypic manifestations/indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Baby/infant'''&lt;br /&gt;
|&lt;br /&gt;
*Oedema of the hands or feet&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Nuchal folds &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Cardiac abnormalities for example aortic dilation, bicuspid aortic valve and aortic coarctation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Low hairline &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Low set ears &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Small mandible &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Gonadal dysgenesis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Child'''&lt;br /&gt;
| &lt;br /&gt;
*Short stature with low growth velocity &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Cubitus valgus''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Nail [[#Glossary | '''hypoplasia''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Hyperconvex uplifted nails &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Multiple pigmented benign birthmarks/moles &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Characteristic faecies &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Short fourth metacarpal &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*High arched palate &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Extensive and chronic inflammation/infection of the ear &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Hearing loss &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 4 year old child.jpg|left|thumb|150px|Figure 5: Four-year-old girl with Turner's syndrome. Note somewhat broad chest, prominent ears and ptosis, but otherwise normal proportion. There is no pronounced neck webbing or edema.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Adolescent/Adult'''&lt;br /&gt;
|&lt;br /&gt;
*Absence of breast development by 13 yr of age &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Pubertal arrest &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Primary or secondary amenorrhoea&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Unexplained short stature &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Renal abnormalities &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Immune disorders &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 35 year old woman.jpg|none|thumb|150px|Figure 6: A Thirtyfive-year-old woman with Turner's syndrome. Note increased carrying angle of arms, broad flat chest and sexual infantilism, but the lack of pronounced neck webbing or peripheral edema.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Since an absence of the physical signs of puberty and/or growth failure are often seen as normal variations in the population, these possible indications/symptoms of Turner syndrome may not be further investigated by many clinicians.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20361125&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; When karyotyping in order to exclude natural cell variation, a sufficient number of cells should be assessed. Whilst a sample of blood will often reveal Turner syndrome, an evaluation of a second tissue sample like the skin is recommend.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
[[#Glossary | '''DNA hybridisation''']] or [[#Glossary | '''fluorescent in situ hybridisation''']] should be conducted using a Y centromeric or short arm probe to detect for any additional Y or X chromosomal material.&lt;br /&gt;
If there is any of the Y chromosome present, this may initiate [[#Glossary | '''gonadoblastoma''']] development, another primary indicator of Turner syndrome. Hence the individual should have both a vaginal [[#Glossary | '''ultrasonograph''']] and colour [[#Glossary | '''Doppler sonograph''']] of their gonads to detect whether any Y chromosome fragments are present. These tests should be repeated regularly to monitor the patient for any malignancy, if a gonadectomy is not undertaken.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== Treatment ==&lt;br /&gt;
&lt;br /&gt;
=== Cardiac Treatment ===&lt;br /&gt;
&lt;br /&gt;
When patients are confirmed with Turner Syndrome, it is necessary to have a full cardiac evaulation including a physical exam and a echocardiogram. If cardiac abnormalities are found, monitoring by a cardiologist is recommended including regular blood pressure checks&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  Coarctation of the aorta and hypoplastic left heart are quite often very serious issues are need to be dealt with surgically&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
If no abnormalities are found, blood pressure in Turner Syndrome patients is still routinely checked and a follow up cardiac evaulation is recommended for girls around the age of puberty (12-15)&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Speech ===&lt;br /&gt;
&lt;br /&gt;
Many Turner Syndrome patients have trouble with their speech. It is necessary for them to be refered to an Ear, Nose and Throat specialist and to a speech therapist to work on improve any speech problems&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Management of Puberty and Growth ===&lt;br /&gt;
The main treatment for growth and pubertal development is Hormone Replacement Therapy. Growth Hormone is adminstered to girls with abnormal growth, resulting in postive growth that is consistent with the expected height of the patient. It is adminstered as early as 2 years of age, but more often in the age group of 9-12 which is in line with the growth spurt that occurs during puberty&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Natural estrogen and progesterone are administered to girls when they reach the age of puberty in early adolescence. The age at which this treatment commences varies between individuals, as does the dosage. The adminsteration of estrogen will begin the process of puberty in girls affected by Turner Syndrome and it is important that this begins around the same time as her peers&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. The use of estrogen is often held off if the patient is also undergoing GH treatment so that maximum growth can be achieved, as estrogen will induce the fusion of the epiphyses and limit longitudinal bone growth&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Around 10% of nonmosaic and 20% of mosaic women with Turner’s will have spontaneous menses (periods) and may not need to undergo Hormone Replacement to initiate puberty. Around 2-5% of these women will have the potential to fall pregnant naturally&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
=== Appearance ===&lt;br /&gt;
&lt;br /&gt;
Extreme neck webbing maybe worrying or uncomfortable to women with Turner’s and in some cases plastic surgery is undertaken to fix this problem. Also if convex gorwth of toenails occurs, surgery is conducted so that the woman can wear normal shoes&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Ongoing Adult Treatment ===&lt;br /&gt;
&lt;br /&gt;
Closely monitoring the health of Turner Syndrome adults is vital in the reduction of morbidity and mortality. An annual physical evalution should be undertaken which includes, blood pressure, heart auscultation, thyroid function, breast exam, and pap smear&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  &lt;br /&gt;
&lt;br /&gt;
Particular attention needs to be taken in the area of weight and obesity in Turner Syndrome women due to their high risk of developing diabetes, osteoporosis and hypertension. Patients are to be encouraged to have a healthy lifestyle including healthy eating and exercise&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Research ==&lt;br /&gt;
&lt;br /&gt;
===Current research===&lt;br /&gt;
&lt;br /&gt;
Since there is no preventative or cure, currently mainly research is being conducted into the areas of symptoms, possible treatments and risks involved with Turner syndrome.&lt;br /&gt;
&lt;br /&gt;
'''Growth hormone therapy in Turner syndrome: its affect on height, weight and stature.'''&lt;br /&gt;
*'''Growth hormone effect on body composition in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21720878&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research findings from this paper conclude that people with Turner syndrome have lower height, higher BMI and higher proportional sitting height and leg length than that of the normal population, no matter whether they undergo hormone replacement therapy or not.&lt;br /&gt;
*'''Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21619701&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study has concluded that all adults with Turner syndrome had a similar quality of life regardless of whether they have a higher stature due to undergoing growth hormone replacement therapy or not. It was hypothesised that height differences did not affect quality of life as the individuals seemed to adapt to their own life challenges.&lt;br /&gt;
*'''Growth hormone treatment for Turner syndrome in Australia reveals that younger age and increased dose interact to improve response.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21375553&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research from this study found that growth hormone therapy works most optimally if given earlier in life and at a high dose in the first year of treatment.&lt;br /&gt;
*'''Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21398400&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: Another study which confers that the early introduction of growth hormone therapy is most efficacious. However the individual's glucose metabolism should be monitored as the hormones may affect glucose tolerance transiently.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Oestrogen hormone replacement therapy in Turner syndrome: the adequate dosage and its effect on uterine development, breast development, bone mineral density and sexual characteristics.'''&lt;br /&gt;
*'''Growth hormone plus childhood low-dose estrogen in Turner's syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21449786&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study indicates that undergoing both growth hormone and oestrogen therapy together may help increase the efficacy of each (increasing growth in height and pubertal development) more than when they act alone. &lt;br /&gt;
*'''Estrogen requirements in girls with Turner syndrome; how low is enough for initiating puberty and uterine development?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21793702&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study assessed the minimal dosage of estrogen that is required to bring about desired pubertal development in girls with Turner syndrome.&lt;br /&gt;
*'''Puberty induction in Turner syndrome: results of oestrogen treatment on development of secondary sexual characteristics, uterine dimensions and serum hormone levels.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19200215&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: It was found that uterus of women with Turner syndrome who had undergone oestrogen was underdeveloped, however the exact cause of this needs to be further researched.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Pregnancy and Turner syndrome: evaluation and treatment of risks involved with pregnancy for: the mothers of Turner syndrome babies, for individuals with Turner syndrome and for the babies of individuals with Turner syndrome.'''&lt;br /&gt;
*'''Familial occurrence of Turner syndrome: casual event or increased risk?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21648298&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research examined whether there is a higher probability of having a second child with Turner syndrome and concluded that there is evidence in the small cohort that they used of a greater probability. It is suggested that a larger study be conducted to look further into these findings.that &lt;br /&gt;
*'''Obstetric Outcomes in Women with Turner Karyotype.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21865365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: In this study it was found that women with Turner syndrome had shorter pregnancies than that of a control group, but no other marked difference was observed between the groups.&lt;br /&gt;
*'''Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21496813&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This paper examined a number of pregnant women with Turner syndrome, some who incidentally went through puberty even though they had no hormone replacement therapy and another group that had undertaken hormone replacement therapy. Though there were not many complications in either group, the groups were small in number and one mother did have cardiovascular difficulties later on in life. Hence a thorough examination of pregnant Turner syndrome women should be conducted prior to conception.&lt;br /&gt;
*'''Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20923275&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This article assessed the prognosis of pregnant women with Turner syndrome. They concluded that spontaneous pregnancy increases the risk of the baby having phenotypic and chromosomal abnormalities compared with women having assisted reproductive therapies.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Future research=== &lt;br /&gt;
&lt;br /&gt;
Future research needs to be conducted in the following areas: to follow up on the suggestions given in the conclusions of current research papers as outlined in the prior section and also into how the care system is functioning for Turner syndrome individuals as outlined below.&lt;br /&gt;
&lt;br /&gt;
*'''Medical Care of Girls with Turner Syndrome: Where are we Lacking?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21454226&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research found that a large proportion (&amp;gt;50%) of people with Turner syndrome are not given adequate information upon diagnosis or screenings for complications and symptoms. Therefore it is suggested in order to rectify this issue that more education should be given to physicians on the syndrome&lt;br /&gt;
*'''Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21752892&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; and '''Turner's syndrome requires multidisciplinary approach.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19514616&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: These article evaluate the need for a multidisciplinary approach to treatment of Turner syndrome. Since the symptoms can be wide ranging and severe, it is difficult but necessary for all of them to be examined in each individual. Hence a greater care plan for individuals should be implemented upon diagnosis.&lt;br /&gt;
&lt;br /&gt;
== Glossary ==&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Alpha-fetoprotein''' is a protein with an unknown function. It makes up, up to one third of the protein serum levels found in the second trimester of pregnancy and in neural tube defects, these alpha-fetoprotein levels are elevated. &amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Amniocentesis''' is a prenatal diagnostic tool. The procedure involves the sampling of amniotic fluid from the amniotic sac using a syringe, that is then tested for a number of abnormalities. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Brachycephaly''' is a condition where the coronal suture of the skull fuses prematurely. Since the skull is unable to expand any further in the anterior-posterior directions due to this closure, it grows to an abnormal size in in the lateral dimension.&amp;lt;ref&amp;gt;Flint, P 2010, ''Flint: Cummings Otolaryngology: Head &amp;amp; Neck Surgery, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-323-05283-2..00186-5--s0045&amp;amp;isbn=978-0-323-05283-2&amp;amp;uniqId=282726024-5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Coarctation''' of the aorta is an abnormality where the aorta is constricted at one or various sections. This can be caused by genetic and/or environmental factors.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Chorionic villous sampling''' is a prenatal diagnostic tool which can be used from 7 weeks after fertilisation. It is used to test for a number of chromosomal abnormalities including X-linked and metabolic disorders.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Cystic hygroma''' is a prenatal abnormality where fluid builds up in the posterior portion of the neck. The body may or may not relieve itself naturally of this accumulation of fluid after birth. &amp;lt;ref&amp;gt;Gabbe, S 2007, ''Gabbe: Obstetrics: Normal and Problem Pregnancies, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-443-06930-7..50011-6--cesec51&amp;amp;isbn=978-0-443-06930-7&amp;amp;uniqId=282726024-10&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''DNA-DNA hybridisation''' is a technique used to compare the similarities and differences between two sets of genes.&amp;lt;ref&amp;gt;Long, S 2009, ''Bradley: Neurology in Clinical Practice, 5th ed.Long: Principles and Practice of Pediatric Infectious Diseases Revised Reprint, 3rd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X&amp;amp;isbn=978-0-7020-3468-8&amp;amp;uniqId=282726024-19#4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Doppler sonography''' uses the doppler effect to help image and measure blood flow pattern in the patient.&amp;lt;ref&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Estriol''' is a hormone that is produced in greater amounts during pregnancy especially in the second and third trimester. One of its main functions is to assist with blood flow in the placenta and uterus.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Gametes''' are reproductive (sex) cells (ie: eggs and sperm) that can unite to form a new cell called a zygote. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6&amp;amp;isbn=978-0-443-06811-9&amp;amp;uniqId=283289096-4#4-u1.0-B978-0-443-06811-9..10001-6--b0020&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Gonadoblastoma''' is an abnormal proliferation of gonadal cells, that may or may not be malignant.&amp;lt;ref&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Haploid''' is the status of a cell having only a single set of unpaired chromosomes, or half the number of chromosomes contained in typical body cells. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10019-3--sec5&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208594256&amp;amp;uniqId=283289096-7#4-u1.0-B978-0-443-06811-9..10019-3--sec5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''hCG''' is the abbreviation for human chorionic gonadotropin. It is a hormone that functions in the early stage of pregnancy to maintain the blood supply to the corpus luteum.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Homologous chromosomes''' are pairs of chromosomes, one each obtained from maternal and paternal gametes.  46 total chromosome complements are within an organism, 22 pairs of which are homologous chromosomes (called autosomes); the other 2 chromosomes are the sex chromosomes. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6--sec7&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208599219&amp;amp;uniqId=283289096-10#4-u1.0-B978-0-443-06811-9..10001-6--sec9&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
'''Hypoplasia''' is when an organ or tissue is not completely developed.&amp;lt;ref&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Inhibin A''' is a peptide produced by the ovaries and acts to restrain the production of follicle-stimulating hormone.&amp;lt;ref&amp;gt;Melmed, S 2011, ''Melmed: Williams Textbook of Endocrinology, 12th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0324-5..00045-6&amp;amp;isbn=978-1-4377-0324-5&amp;amp;uniqId=282726024-25 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Karyotype''' is an individual's set of chromosomes, both their number and appearance.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Meiosis''' is the specific process of cell division within sex cells which halves the number of chromosomes in the cells through via two cell divisions; this is specific to germ cells only, creating haploid gametes (sex cells) from diploid cells. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
'''Monosomy''' is a condition wherein a specific chromosome is completely missing within one gamete that combines with a normal gamete to form a zygote; a chromosome has no homologue, or matching chromosome, to pair with. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6--sec15&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208595822&amp;amp;uniqId=283289096-8#4-u1.0-B978-0-443-06811-9..10001-6--sec41&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Mosaicism''' is when a particular type or all cells of an individual do not have the same genetic makeup. This is caused by a mutation during embryonic cell division.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Nondisjunction''' is the failure of chromosome pairs to separate entirely during either stage of Meiosis. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec27&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--spara33&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Oligohydramnios''' is a prenatal condition, where there is an insufficient amount of amniotic fluid.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Polyhydramnios''' is a prenatal condition, where there is an excessive amount of amniotic fluid.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Random assortment'''&lt;br /&gt;
&lt;br /&gt;
'''Recombination''' is the process which by genetic material is crossed over and switched between two segments of DNA which adds to the genetic diversity of the genome.&lt;br /&gt;
&lt;br /&gt;
'''SHOX gene''' is the short stature homeobox gene, that when deficient frequently results in short stature.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Sister chromatids'''&lt;br /&gt;
&lt;br /&gt;
'''Ultrasonography''' is a medical technique that employs ultrasound frequencies to visualise a patient's internal bodily structure.&amp;lt;ref&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== References ==&lt;br /&gt;
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&amp;lt;references/&amp;gt;&lt;br /&gt;
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{{2011Projects}}&lt;/div&gt;</summary>
		<author><name>Z3217043</name></author>
	</entry>
	<entry>
		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=73766</id>
		<title>2011 Group Project 1</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=73766"/>
		<updated>2011-09-30T11:10:09Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: /* Diagnostic Definition */&lt;/p&gt;
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&lt;div&gt;{{2011ProjectsMH}}&lt;br /&gt;
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== Turner Syndrome ==&lt;br /&gt;
&lt;br /&gt;
--[[User:S8600021|Mark Hill]] 10:44, 8 September 2011 (EST) Some of the existing sub-sections have appropriate content, but there are also empty sub-sections, a total lack of referencing/citation and no glossary. &lt;br /&gt;
* The referencing issue needs urgent  progress.&lt;br /&gt;
* Existing figures/table are appropriate. Table appears to be directly used from an uncited source.&lt;br /&gt;
* There needs to be more images in this work.&lt;br /&gt;
* Where is the student drawn figure?&lt;br /&gt;
* Read http://embryology.med.unsw.edu.au/embryology/index.php?title=Help:Reference_Tutorial#Multiple%20Instances%20on%20Page&lt;br /&gt;
&lt;br /&gt;
== Introduction ==&lt;br /&gt;
&lt;br /&gt;
Turner syndrome, named after Henry Hubert Turner who first described the syndrome in his paper in 1938,&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;4557013&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; is one of the most commonly occuring chromosomal disorders. It is caused by complete or partial X monosomy in some or all cells and occurs in approximately 1 in 2000 live female births, however the morbidity rate of spontaneous abortions is 10% and only about 1% of fetuses survive to term. &lt;br /&gt;
&lt;br /&gt;
During normal fetal development, each ovary contain as many as 7 million oocytes. The oocytes gradually reduced to 400,000 during menarche and during menopause fewer than 10,000 remains. However, in Turner syndrome, the ovaries develop normally during embryogenesis but the absence of the second X chromosome leads to an accelerated loss of oocytes, which is complete by the time the infant, is aged 2. Genetically menopause occurs before menarche and the ovaries are reduced to atrophic fibrous strands, devoid of ova and follicles (streak ovaries). Development of somatic (nongonadal) tissues that reside on the missing/abnormal X chromosome are also severely affected. For example short stature is caused by a deletion of the Xp chromosome and the deletion of Xq causes gonadal dysfunction &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt; 6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
 &lt;br /&gt;
The most frequent clinical feature is short stature and gonadal dysgenesis. Other features may include coarctation of the aorta, renal anomalies, neck webbing, and lymphoedema. The affected organ systems and tissues may are effected to a lesser or greater extent amongst that are affected by turner syndrome. Each person who has turner syndrome all vary in their clinical phenotype. In recent years there has been increased interest in Turner Syndrome due to the introduction of growth hormone treatment. There has been marked improvement in the understanding of this condition as advances in molecular genetic techniques occur. However, there still further research to be completed. A multidisciplinary approach to treatment is important to improve the quality of life of girls with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
 &lt;br /&gt;
[[File:Karyotype.jpg|200px|thumb|left|The arrow indicates the presence of only one X chromosome in Karyotype]]&lt;br /&gt;
&lt;br /&gt;
== Epidemiology ==&lt;br /&gt;
&lt;br /&gt;
Turner Syndrome affects about 1 in 2000 live-born females. There are three types of karyotypic abnormalities but the most frequently seen is where the entire X chromosome is missing resulting in 45 X karyotype. The remaining third have structural abnormalities of the X chromosomes, and two thirds are mosaics. Whereby, the maternal X is retained in two-thirds of women and the paternal X in the remainder.&lt;br /&gt;
The phenotype of Turner Syndrome is varies but it involves anomalies of the sex chromosome. It could be caused by the limited amount of genetic material in these abnormal chromosomes. Turner Syndrome can be transmitted from mother to daughter, and thus can it could be described as a heredity linked syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The loss of one of the sex chromosomes of turner syndrome occurs after the zygote has formed or just after the fusion of the gametes. In 70-80% of cases the retained X is from the mother. In such circumstances has lead to the different phenotypic expression of the genes present on the X chromosome depending upon if it came from the mother or father. &lt;br /&gt;
The morphological differences from those retaining the maternal compared to retaining the paternal X is have shown to have a greater incidence of cardiovascular anomalies and neck webbing. &lt;br /&gt;
The missing sex chromosome could be either an X or a Y. This has clinical implications because if the Y material is present there is a risk of up to 30% of gonadoblastoma developing in the dysgenetic gonads. This is because the 'gonadoblastoma locus' is on the Y chromosome which is believed to be situated on the long arm of the Y just below the centromere.&lt;br /&gt;
Another factor affecting the phenotype in Turner syndrome is the inactivation of the abnormal X chromosomes. In a normal fetus there should be only one X chromosome that is active in each cell &amp;lt;ref&amp;gt;Wade, Nicholas (2009-09-15). '''&amp;quot;New Clues to Sex Anomalies in How Y Chromosomes Are Copied&amp;quot;'''. The New York Times. Retrieved 2010-05-26. http://www.nytimes.com/2009/09/15/science/15chrom.html?pagewanted=1&amp;amp;_r=1&amp;amp;hpw&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
[[File:Stats abnormal.jpg]]  &lt;br /&gt;
&lt;br /&gt;
Abnormalities associated with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Etiology ==&lt;br /&gt;
[[File:nondisjunction.jpg|850px|thumb|right|alt text|This figure shows the progeny created from normal disjunction (A), and non-disjunction during both Meiosis I (B) and Meiosis II (C).]]&lt;br /&gt;
&lt;br /&gt;
Causation of Turner Syndrome (TS) can be traced back to the stages of sex-cell development.  When sex cells divide through a process called [[#Glossary | '''meiosis''']] to create [[#Glossary | '''gametes''']], either a [[#Glossary | '''haploid''']] egg (for females) or sperm (for males) two divisions occur, Meiosis I and Meiosis II.  Meiosis is the main process which helps create the vast genetic diversity within all populations by allowing [[#Glossary | '''recombination''']] and [[#Glossary | '''random assortment''']].  During Meiosis I [[#Glossary | '''homologous chromosomes''']] are separated; following Meiosis I, [[#Glossary | '''sister chromatids''']] separate during Meiosis II.  If during either stage of Meiosis I or II the homologous chromosomes or sister chromatids, respectively, do not fully separate, a phenomenon can occur called [[#Glossary | '''nondisjunction''']].  Nondisjunction causes an uneven distribution of genetic material to each daughter nuclei.  When an uneven distribution is such that one of the gametes does not have any of a chromosome, it can combine with another normal gamete to create a fertilized egg with only one chromosome as opposed to the normal two that are found in human cells; this is called a [[#Glossary | '''monosomy''']].  When this occurs in the sex chromosomes leaving only a single X chromosome (X0 genotype) Turner Syndrome is created, leaving only 45 chromosomes in the zygote rather than the normal 46.  &lt;br /&gt;
&lt;br /&gt;
[[File:22+23=45.jpg|350px|thumb|left|22 chromosomal egg + 23 chromosomal sperm = 45 chromsomes in zygote instead of normal 46.]]&lt;br /&gt;
Turner Syndrome can also be created by partial monosomy or disjunctions, meaning that although a whole X chromosome is not missing, portions of it are not present or are non-functional, rendering the chromosome useless.  Any disjunction seems to be completely sporadic and have yet to be attributed to any genetic link. The only thing known for sure is that during conception a portion of or the whole second sex chromosome is not conveyed to the zygote.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;7763055&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; Because at least one X chromosome is necessary for vital functions, this condition can only be found in females.&lt;br /&gt;
&lt;br /&gt;
== Clinical Manifestations ==&lt;br /&gt;
&lt;br /&gt;
The following are a list of characteristics and diseases which tend to accompany, be caused by, or be related to Turner Syndrome.  &lt;br /&gt;
&lt;br /&gt;
===Physical Attributes:===&lt;br /&gt;
*congenital malformations (heart, urinary system, face, neck, ears) &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*gonadal dysgenesis (causes estrogen deficiencies, which can cause infertility) &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*increased risk of fractures &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16624607&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low cortical bone mineral density (BMD) &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;/&amp;gt;&lt;br /&gt;
*middle ear infections &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*premature ovarian failure &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*short/reduced stature &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*webbed neck &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;17562588&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Decreased Cognition:===&lt;br /&gt;
*emotion processing difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;20014362&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*increased impulsivity &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;19750135&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low IQ score &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
*nonverbal learning disability (slow math calculations)&amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*social cognition difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*visuoperception/visuoconstruction deficit (identifying and locating is difficult due to poor visual working memory) &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Increased Risk of:===&lt;br /&gt;
*cirrhosis of the liver &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*colon and rectal cancers &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*hypothyroidism &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*inflammatory bowel disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
*morbidity and mortality &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*neurovascular disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*osteoporosis &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*ovarian failure &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*renal and gastrointestinal disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Prone to Develop Autoimmune Conditions:=== &lt;br /&gt;
*alopecia areata &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coeliac disease (CD) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12466343&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*psoriasis &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;/&amp;gt;&lt;br /&gt;
*thyroiditis &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*type 1 diabetes &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Cardiac Abnormalities:===&lt;br /&gt;
(most serious/life threatening medical problems created by Turner Syndrome)&lt;br /&gt;
*absence of portal vein &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16612647&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*aortic dilatation and dissection  &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*arrhythmias &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;17015510&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*arteriosclerosis &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*biscuspid aortic valves &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*coarctation of the aorta &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*hypertension &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*ischemic heart disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*mitral valve prolapsed &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== Diagnostic Procedures ==&lt;br /&gt;
&lt;br /&gt;
===Diagnostic Definition===&lt;br /&gt;
&lt;br /&gt;
[[File:Turner Syndrome X Chromosome Variations.jpg|thumb|right|Variations of the Second X Chromosome in Turner Syndrome]]&lt;br /&gt;
Turner syndrome is diagnosed through both an evaluation of physical features and by analysis of the second sex chromosome. The two criteria must be met for classification of Turner syndrome, an abnormality in the second sex chromosome must be found and the abnormality must be found to be expressed somehow in the individual's traits. Hence if physical characteristics are not present even when the cytogenetic criterion is met the patient is not diagnosed as having Turner syndrome.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; In Turner syndrome the second sex chromosome is either:&lt;br /&gt;
&lt;br /&gt;
*Completely absent (45,X)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Partially absent&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Forms an isochromosome (isoXq), possessing a long arm duplication (q) and being devoid of a short arm (p)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&lt;br /&gt;
*In a ring formation (rX)&amp;lt;ref name=&amp;quot;PMID16714725&amp;quot;/&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Is devoid of the homeobox gene, [[#Glossary | '''SHOX''']] (short stature homeobox), the deletion being prior to the junction between Xp22.2 and Xp22.3&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
Any of these variations of the second sex chromosome may occur with or without cell line [[#Glossary | '''mosaicism''']].&lt;br /&gt;
Turner syndrome may be diagnosed prenatally or postnatally, using this genetic diagnostic definition coupled with an appropriate phenotypic evaluation of the individual, as outlined below.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Prenatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
The prenatal diagnostic tool for Turner syndrome is karyotype screening and testing for phenotype abnormalities. If Turner syndrome is diagnosed prenatally, karyotype screening and an evaluation of the individual's traits should be conducted again postnatally for confirmation of this diagnosis. Turner syndrome is frequently diagnosed after karyotype screening during [[#Glossary | '''chorionic villous sampling''']] or [[#Glossary | '''amniocentesis''']].&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
The table below outlines various prenatal tests conducted and the indications that may be present in babies with Turner syndrome. Although these techniques and the indications they reveal may highlight Turner syndrome signs, they should not be used as sole diagnostic tools.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Technique'''&lt;br /&gt;
| '''Turner syndrome indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Ultrasound'''&lt;br /&gt;
|&lt;br /&gt;
*Increased nuchal translucency &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Cystic hygroma''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Coarctation''']] of the aorta &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Left-sided cardiac defects &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Brachycephaly''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Renal anomalies &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Polyhydramnios''']] &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Oligohydramnios''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Growth retardation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;10599686&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Turner Syndrome Test Showing Nuchal Translucency.gif|none|thumb|400px|Figure 2: Ultrasound Test Showing Nuchal Translucency.]]&lt;br /&gt;
[[File:Turner Syndrome Test Showing Cystic Hygroma.gif|none|thumb|400px|Figure 3: Ultrasound Test Showing Cystic Hygroma.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Maternal serum screening'''&lt;br /&gt;
|&lt;br /&gt;
*Abnormal [[#Glossary | '''α-fetoprotein''']] levels &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary | '''inhibin A''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary | '''hCG''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal unconjugated [[#Glossary | '''estriol''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
|[[File: TurnerSyndromeMaternalSerumSampling.jpg|none|thumb|400px|Figure 4: Maternal Serum Sampling.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
===Postnatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
In postnatal diagnosis, [[#Glossary | '''karyotype''']] investigation is undertaken for the individual. When a female presents with the following clinical findings, explained in table below, it is recommended that chromosomal analysis is undertaken, so that Turner syndrome may be eliminated&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;:&lt;br /&gt;
{|sstyle= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Age'''&lt;br /&gt;
| '''Phenotypic manifestations/indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Baby/infant'''&lt;br /&gt;
|&lt;br /&gt;
*Oedema of the hands or feet&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Nuchal folds &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Cardiac abnormalities for example aortic dilation, bicuspid aortic valve and aortic coarctation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Low hairline &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Low set ears &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Small mandible &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Gonadal dysgenesis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Child'''&lt;br /&gt;
| &lt;br /&gt;
*Short stature with low growth velocity &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Cubitus valgus''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Nail [[#Glossary | '''hypoplasia''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Hyperconvex uplifted nails &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Multiple pigmented benign birthmarks/moles &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Characteristic faecies &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Short fourth metacarpal &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*High arched palate &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Extensive and chronic inflammation/infection of the ear &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Hearing loss &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 4 year old child.jpg|left|thumb|150px|Figure 5: Four-year-old girl with Turner's syndrome. Note somewhat broad chest, prominent ears and ptosis, but otherwise normal proportion. There is no pronounced neck webbing or edema.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Adolescent/Adult'''&lt;br /&gt;
|&lt;br /&gt;
*Absence of breast development by 13 yr of age &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Pubertal arrest &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Primary or secondary amenorrhoea&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Unexplained short stature &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Renal abnormalities &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Immune disorders &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 35 year old woman.jpg|none|thumb|150px|Figure 6: A Thirtyfive-year-old woman with Turner's syndrome. Note increased carrying angle of arms, broad flat chest and sexual infantilism, but the lack of pronounced neck webbing or peripheral edema.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Since an absence of the physical signs of puberty and/or growth failure are often seen as normal variations in the population, these possible indications/symptoms of Turner syndrome may not be further investigated by many clinicians.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20361125&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; When karyotyping in order to exclude natural cell variation, a sufficient number of cells should be assessed. Whilst a sample of blood will often reveal Turner syndrome, an evaluation of a second tissue sample like the skin is recommend.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
[[#Glossary | '''DNA hybridisation''']] or [[#Glossary | '''fluorescent in situ hybridisation''']] should be conducted using a Y centromeric or short arm probe to detect for any additional Y or X chromosomal material.&lt;br /&gt;
If there is any of the Y chromosome present, this may initiate [[#Glossary | '''gonadoblastoma''']] development, another primary indicator of Turner syndrome. Hence the individual should have both a vaginal [[#Glossary | '''ultrasonograph''']] and colour [[#Glossary | '''Doppler sonograph''']] of their gonads to detect whether any Y chromosome fragments are present. These tests should be repeated regularly to monitor the patient for any malignancy, if a gonadectomy is not undertaken.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== Treatment ==&lt;br /&gt;
&lt;br /&gt;
=== Cardiac Treatment ===&lt;br /&gt;
&lt;br /&gt;
When patients are confirmed with Turner Syndrome, it is necessary to have a full cardiac evaulation including a physical exam and a echocardiogram. If cardiac abnormalities are found, monitoring by a cardiologist is recommended including regular blood pressure checks&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  Coarctation of the aorta and hypoplastic left heart are quite often very serious issues are need to be dealt with surgically&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
If no abnormalities are found, blood pressure in Turner Syndrome patients is still routinely checked and a follow up cardiac evaulation is recommended for girls around the age of puberty (12-15)&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Speech ===&lt;br /&gt;
&lt;br /&gt;
Many Turner Syndrome patients have trouble with their speech. It is necessary for them to be refered to an Ear, Nose and Throat specialist and to a speech therapist to work on improve any speech problems&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Management of Puberty and Growth ===&lt;br /&gt;
The main treatment for growth and pubertal development is Hormone Replacement Therapy. Growth Hormone is adminstered to girls with abnormal growth, resulting in postive growth that is consistent with the expected height of the patient. It is adminstered as early as 2 years of age, but more often in the age group of 9-12 which is in line with the growth spurt that occurs during puberty&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Natural estrogen and progesterone are administered to girls when they reach the age of puberty in early adolescence. The age at which this treatment commences varies between individuals, as does the dosage. The adminsteration of estrogen will begin the process of puberty in girls affected by Turner Syndrome and it is important that this begins around the same time as her peers&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. The use of estrogen is often held off if the patient is also undergoing GH treatment so that maximum growth can be achieved, as estrogen will induce the fusion of the epiphyses and limit longitudinal bone growth&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Around 10% of nonmosaic and 20% of mosaic women with Turner’s will have spontaneous menses (periods) and may not need to undergo Hormone Replacement to initiate puberty. Around 2-5% of these women will have the potential to fall pregnant naturally&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
=== Appearance ===&lt;br /&gt;
&lt;br /&gt;
Extreme neck webbing maybe worrying or uncomfortable to women with Turner’s and in some cases plastic surgery is undertaken to fix this problem. Also if convex gorwth of toenails occurs, surgery is conducted so that the woman can wear normal shoes&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Ongoing Adult Treatment ===&lt;br /&gt;
&lt;br /&gt;
Closely monitoring the health of Turner Syndrome adults is vital in the reduction of morbidity and mortality. An annual physical evalution should be undertaken which includes, blood pressure, heart auscultation, thyroid function, breast exam, and pap smear&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  &lt;br /&gt;
&lt;br /&gt;
Particular attention needs to be taken in the area of weight and obesity in Turner Syndrome women due to their high risk of developing diabetes, osteoporosis and hypertension. Patients are to be encouraged to have a healthy lifestyle including healthy eating and exercise&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Research ==&lt;br /&gt;
&lt;br /&gt;
===Current research===&lt;br /&gt;
&lt;br /&gt;
Since there is no preventative or cure, currently mainly research is being conducted into the areas of symptoms, possible treatments and risks involved with Turner syndrome.&lt;br /&gt;
&lt;br /&gt;
'''Growth hormone therapy in Turner syndrome: its affect on height, weight and stature.'''&lt;br /&gt;
*'''Growth hormone effect on body composition in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21720878&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research findings from this paper conclude that people with Turner syndrome have lower height, higher BMI and higher proportional sitting height and leg length than that of the normal population, no matter whether they undergo hormone replacement therapy or not.&lt;br /&gt;
*'''Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21619701&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study has concluded that all adults with Turner syndrome had a similar quality of life regardless of whether they have a higher stature due to undergoing growth hormone replacement therapy or not. It was hypothesised that height differences did not affect quality of life as the individuals seemed to adapt to their own life challenges.&lt;br /&gt;
*'''Growth hormone treatment for Turner syndrome in Australia reveals that younger age and increased dose interact to improve response.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21375553&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research from this study found that growth hormone therapy works most optimally if given earlier in life and at a high dose in the first year of treatment.&lt;br /&gt;
*'''Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21398400&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: Another study which confers that the early introduction of growth hormone therapy is most efficacious. However the individual's glucose metabolism should be monitored as the hormones may affect glucose tolerance transiently.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Oestrogen hormone replacement therapy in Turner syndrome: the adequate dosage and its effect on uterine development, breast development, bone mineral density and sexual characteristics.'''&lt;br /&gt;
*'''Growth hormone plus childhood low-dose estrogen in Turner's syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21449786&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study indicates that undergoing both growth hormone and oestrogen therapy together may help increase the efficacy of each (increasing growth in height and pubertal development) more than when they act alone. &lt;br /&gt;
*'''Estrogen requirements in girls with Turner syndrome; how low is enough for initiating puberty and uterine development?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21793702&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study assessed the minimal dosage of estrogen that is required to bring about desired pubertal development in girls with Turner syndrome.&lt;br /&gt;
*'''Puberty induction in Turner syndrome: results of oestrogen treatment on development of secondary sexual characteristics, uterine dimensions and serum hormone levels.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19200215&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: It was found that uterus of women with Turner syndrome who had undergone oestrogen was underdeveloped, however the exact cause of this needs to be further researched.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Pregnancy and Turner syndrome: evaluation and treatment of risks involved with pregnancy for: the mothers of Turner syndrome babies, for individuals with Turner syndrome and for the babies of individuals with Turner syndrome.'''&lt;br /&gt;
*'''Familial occurrence of Turner syndrome: casual event or increased risk?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21648298&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research examined whether there is a higher probability of having a second child with Turner syndrome and concluded that there is evidence in the small cohort that they used of a greater probability. It is suggested that a larger study be conducted to look further into these findings.that &lt;br /&gt;
*'''Obstetric Outcomes in Women with Turner Karyotype.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21865365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: In this study it was found that women with Turner syndrome had shorter pregnancies than that of a control group, but no other marked difference was observed between the groups.&lt;br /&gt;
*'''Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21496813&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This paper examined a number of pregnant women with Turner syndrome, some who incidentally went through puberty even though they had no hormone replacement therapy and another group that had undertaken hormone replacement therapy. Though there were not many complications in either group, the groups were small in number and one mother did have cardiovascular difficulties later on in life. Hence a thorough examination of pregnant Turner syndrome women should be conducted prior to conception.&lt;br /&gt;
*'''Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20923275&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This article assessed the prognosis of pregnant women with Turner syndrome. They concluded that spontaneous pregnancy increases the risk of the baby having phenotypic and chromosomal abnormalities compared with women having assisted reproductive therapies.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Future research=== &lt;br /&gt;
&lt;br /&gt;
Future research needs to be conducted in the following areas: to follow up on the suggestions given in the conclusions of current research papers as outlined in the prior section and also into how the care system is functioning for Turner syndrome individuals as outlined below.&lt;br /&gt;
&lt;br /&gt;
*'''Medical Care of Girls with Turner Syndrome: Where are we Lacking?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21454226&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research found that a large proportion (&amp;gt;50%) of people with Turner syndrome are not given adequate information upon diagnosis or screenings for complications and symptoms. Therefore it is suggested in order to rectify this issue that more education should be given to physicians on the syndrome&lt;br /&gt;
*'''Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21752892&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; and '''Turner's syndrome requires multidisciplinary approach.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19514616&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: These article evaluate the need for a multidisciplinary approach to treatment of Turner syndrome. Since the symptoms can be wide ranging and severe, it is difficult but necessary for all of them to be examined in each individual. Hence a greater care plan for individuals should be implemented upon diagnosis.&lt;br /&gt;
&lt;br /&gt;
== Glossary ==&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Alpha-fetoprotein''' is a protein with an unknown function. It makes up, up to one third of the protein serum levels found in the second trimester of pregnancy and in neural tube defects, these alpha-fetoprotein levels are elevated. &amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Amniocentesis''' is a prenatal diagnostic tool. The procedure involves the sampling of amniotic fluid from the amniotic sac using a syringe, that is then tested for a number of abnormalities. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Brachycephaly''' is a condition where the coronal suture of the skull fuses prematurely. Since the skull is unable to expand any further in the anterior-posterior directions due to this closure, it grows to an abnormal size in in the lateral dimension.&amp;lt;ref&amp;gt;Flint, P 2010, ''Flint: Cummings Otolaryngology: Head &amp;amp; Neck Surgery, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-323-05283-2..00186-5--s0045&amp;amp;isbn=978-0-323-05283-2&amp;amp;uniqId=282726024-5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Coarctation''' of the aorta is an abnormality where the aorta is constricted at one or various sections. This can be caused by genetic and/or environmental factors.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Chorionic villous sampling''' is a prenatal diagnostic tool which can be used from 7 weeks after fertilisation. It is used to test for a number of chromosomal abnormalities including X-linked and metabolic disorders.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Cystic hygroma''' is a prenatal abnormality where fluid builds up in the posterior portion of the neck. The body may or may not relieve itself naturally of this accumulation of fluid after birth. &amp;lt;ref&amp;gt;Gabbe, S 2007, ''Gabbe: Obstetrics: Normal and Problem Pregnancies, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-443-06930-7..50011-6--cesec51&amp;amp;isbn=978-0-443-06930-7&amp;amp;uniqId=282726024-10&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''DNA-DNA hybridisation''' is a technique used to compare the similarities and differences between two sets of genes.&amp;lt;ref&amp;gt;Long, S 2009, ''Bradley: Neurology in Clinical Practice, 5th ed.Long: Principles and Practice of Pediatric Infectious Diseases Revised Reprint, 3rd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X&amp;amp;isbn=978-0-7020-3468-8&amp;amp;uniqId=282726024-19#4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Doppler sonography''' uses the doppler effect to help image and measure blood flow pattern in the patient.&amp;lt;ref&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Estriol''' is a hormone that is produced in greater amounts during pregnancy especially in the second and third trimester. One of its main functions is to assist with blood flow in the placenta and uterus.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Gametes''' are reproductive (sex) cells (ie: eggs and sperm) that can unite to form a new cell called a zygote. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6&amp;amp;isbn=978-0-443-06811-9&amp;amp;uniqId=283289096-4#4-u1.0-B978-0-443-06811-9..10001-6--b0020&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Gonadoblastoma''' is an abnormal proliferation of gonadal cells, that may or may not be malignant.&amp;lt;ref&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Haploid''' is the status of a cell having only a single set of unpaired chromosomes, or half the number of chromosomes contained in typical body cells. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10019-3--sec5&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208594256&amp;amp;uniqId=283289096-7#4-u1.0-B978-0-443-06811-9..10019-3--sec5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''hCG''' is the abbreviation for human chorionic gonadotropin. It is a hormone that functions in the early stage of pregnancy to maintain the blood supply to the corpus luteum.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Homologous chromosomes''' are pairs of chromosomes, one each obtained from maternal and paternal gametes.  46 total chromosome complements are within an organism, 22 pairs of which are homologous chromosomes (called autosomes); the other 2 chromosomes are the sex chromosomes. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6--sec7&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208599219&amp;amp;uniqId=283289096-10#4-u1.0-B978-0-443-06811-9..10001-6--sec9&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
'''Hypoplasia''' is when an organ or tissue is not completely developed.&amp;lt;ref&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Inhibin A''' is a peptide produced by the ovaries and acts to restrain the production of follicle-stimulating hormone.&amp;lt;ref&amp;gt;Melmed, S 2011, ''Melmed: Williams Textbook of Endocrinology, 12th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0324-5..00045-6&amp;amp;isbn=978-1-4377-0324-5&amp;amp;uniqId=282726024-25 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Karyotype''' is an individual's set of chromosomes, both their number and appearance.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Meiosis''' is the specific process of cell division within sex cells which halves the number of chromosomes in the cells through via two cell divisions; this is specific to germ cells only, creating haploid gametes (sex cells) from diploid cells. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
'''Monosomy''' is a condition wherein a specific chromosome is completely missing within one gamete that combines with a normal gamete to form a zygote; a chromosome has no homologue, or matching chromosome, to pair with. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6--sec15&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208595822&amp;amp;uniqId=283289096-8#4-u1.0-B978-0-443-06811-9..10001-6--sec41&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Mosaicism''' is when a particular type or all cells of an individual do not have the same genetic makeup. This is caused by a mutation during embryonic cell division.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Nondisjunction''' is the failure of chromosome pairs to separate entirely during either stage of Meiosis. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec27&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--spara33&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Oligohydramnios''' is a prenatal condition, where there is an insufficient amount of amniotic fluid.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Polyhydramnios''' is a prenatal condition, where there is an excessive amount of amniotic fluid.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Random assortment'''&lt;br /&gt;
&lt;br /&gt;
'''Recombination''' is the process which by genetic material is crossed over and switched between two segments of DNA which adds to the genetic diversity of the genome.&lt;br /&gt;
&lt;br /&gt;
'''SHOX gene''' is the short stature homeobox gene, that when deficient frequently results in short stature.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Sister chromatids'''&lt;br /&gt;
&lt;br /&gt;
'''Ultrasonography''' is a medical technique that employs ultrasound frequencies to visualise a patient's internal bodily structure.&amp;lt;ref&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== References ==&lt;br /&gt;
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{{2011Projects}}&lt;/div&gt;</summary>
		<author><name>Z3217043</name></author>
	</entry>
	<entry>
		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=73764</id>
		<title>2011 Group Project 1</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=73764"/>
		<updated>2011-09-30T11:04:01Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: /* Prone to Develop Autoimmune Conditions: */&lt;/p&gt;
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== Turner Syndrome ==&lt;br /&gt;
&lt;br /&gt;
--[[User:S8600021|Mark Hill]] 10:44, 8 September 2011 (EST) Some of the existing sub-sections have appropriate content, but there are also empty sub-sections, a total lack of referencing/citation and no glossary. &lt;br /&gt;
* The referencing issue needs urgent  progress.&lt;br /&gt;
* Existing figures/table are appropriate. Table appears to be directly used from an uncited source.&lt;br /&gt;
* There needs to be more images in this work.&lt;br /&gt;
* Where is the student drawn figure?&lt;br /&gt;
* Read http://embryology.med.unsw.edu.au/embryology/index.php?title=Help:Reference_Tutorial#Multiple%20Instances%20on%20Page&lt;br /&gt;
&lt;br /&gt;
== Introduction ==&lt;br /&gt;
&lt;br /&gt;
Turner syndrome, named after Henry Hubert Turner who first described the syndrome in his paper in 1938,&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;4557013&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; is one of the most commonly occuring chromosomal disorders. It is caused by complete or partial X monosomy in some or all cells and occurs in approximately 1 in 2000 live female births, however the morbidity rate of spontaneous abortions is 10% and only about 1% of fetuses survive to term. &lt;br /&gt;
&lt;br /&gt;
During normal fetal development, each ovary contain as many as 7 million oocytes. The oocytes gradually reduced to 400,000 during menarche and during menopause fewer than 10,000 remains. However, in Turner syndrome, the ovaries develop normally during embryogenesis but the absence of the second X chromosome leads to an accelerated loss of oocytes, which is complete by the time the infant, is aged 2. Genetically menopause occurs before menarche and the ovaries are reduced to atrophic fibrous strands, devoid of ova and follicles (streak ovaries). Development of somatic (nongonadal) tissues that reside on the missing/abnormal X chromosome are also severely affected. For example short stature is caused by a deletion of the Xp chromosome and the deletion of Xq causes gonadal dysfunction &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt; 6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
 &lt;br /&gt;
The most frequent clinical feature is short stature and gonadal dysgenesis. Other features may include coarctation of the aorta, renal anomalies, neck webbing, and lymphoedema. The affected organ systems and tissues may are effected to a lesser or greater extent amongst that are affected by turner syndrome. Each person who has turner syndrome all vary in their clinical phenotype. In recent years there has been increased interest in Turner Syndrome due to the introduction of growth hormone treatment. There has been marked improvement in the understanding of this condition as advances in molecular genetic techniques occur. However, there still further research to be completed. A multidisciplinary approach to treatment is important to improve the quality of life of girls with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
 &lt;br /&gt;
[[File:Karyotype.jpg|200px|thumb|left|The arrow indicates the presence of only one X chromosome in Karyotype]]&lt;br /&gt;
&lt;br /&gt;
== Epidemiology ==&lt;br /&gt;
&lt;br /&gt;
Turner Syndrome affects about 1 in 2000 live-born females. There are three types of karyotypic abnormalities but the most frequently seen is where the entire X chromosome is missing resulting in 45 X karyotype. The remaining third have structural abnormalities of the X chromosomes, and two thirds are mosaics. Whereby, the maternal X is retained in two-thirds of women and the paternal X in the remainder.&lt;br /&gt;
The phenotype of Turner Syndrome is varies but it involves anomalies of the sex chromosome. It could be caused by the limited amount of genetic material in these abnormal chromosomes. Turner Syndrome can be transmitted from mother to daughter, and thus can it could be described as a heredity linked syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The loss of one of the sex chromosomes of turner syndrome occurs after the zygote has formed or just after the fusion of the gametes. In 70-80% of cases the retained X is from the mother. In such circumstances has lead to the different phenotypic expression of the genes present on the X chromosome depending upon if it came from the mother or father. &lt;br /&gt;
The morphological differences from those retaining the maternal compared to retaining the paternal X is have shown to have a greater incidence of cardiovascular anomalies and neck webbing. &lt;br /&gt;
The missing sex chromosome could be either an X or a Y. This has clinical implications because if the Y material is present there is a risk of up to 30% of gonadoblastoma developing in the dysgenetic gonads. This is because the 'gonadoblastoma locus' is on the Y chromosome which is believed to be situated on the long arm of the Y just below the centromere.&lt;br /&gt;
Another factor affecting the phenotype in Turner syndrome is the inactivation of the abnormal X chromosomes. In a normal fetus there should be only one X chromosome that is active in each cell &amp;lt;ref&amp;gt;Wade, Nicholas (2009-09-15). '''&amp;quot;New Clues to Sex Anomalies in How Y Chromosomes Are Copied&amp;quot;'''. The New York Times. Retrieved 2010-05-26. http://www.nytimes.com/2009/09/15/science/15chrom.html?pagewanted=1&amp;amp;_r=1&amp;amp;hpw&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
[[File:Stats abnormal.jpg]]  &lt;br /&gt;
&lt;br /&gt;
Abnormalities associated with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Etiology ==&lt;br /&gt;
[[File:nondisjunction.jpg|850px|thumb|right|alt text|This figure shows the progeny created from normal disjunction (A), and non-disjunction during both Meiosis I (B) and Meiosis II (C).]]&lt;br /&gt;
&lt;br /&gt;
Causation of Turner Syndrome (TS) can be traced back to the stages of sex-cell development.  When sex cells divide through a process called [[#Glossary | '''meiosis''']] to create [[#Glossary | '''gametes''']], either a [[#Glossary | '''haploid''']] egg (for females) or sperm (for males) two divisions occur, Meiosis I and Meiosis II.  Meiosis is the main process which helps create the vast genetic diversity within all populations by allowing [[#Glossary | '''recombination''']] and [[#Glossary | '''random assortment''']].  During Meiosis I [[#Glossary | '''homologous chromosomes''']] are separated; following Meiosis I, [[#Glossary | '''sister chromatids''']] separate during Meiosis II.  If during either stage of Meiosis I or II the homologous chromosomes or sister chromatids, respectively, do not fully separate, a phenomenon can occur called [[#Glossary | '''nondisjunction''']].  Nondisjunction causes an uneven distribution of genetic material to each daughter nuclei.  When an uneven distribution is such that one of the gametes does not have any of a chromosome, it can combine with another normal gamete to create a fertilized egg with only one chromosome as opposed to the normal two that are found in human cells; this is called a [[#Glossary | '''monosomy''']].  When this occurs in the sex chromosomes leaving only a single X chromosome (X0 genotype) Turner Syndrome is created, leaving only 45 chromosomes in the zygote rather than the normal 46.  &lt;br /&gt;
&lt;br /&gt;
[[File:22+23=45.jpg|350px|thumb|left|22 chromosomal egg + 23 chromosomal sperm = 45 chromsomes in zygote instead of normal 46.]]&lt;br /&gt;
Turner Syndrome can also be created by partial monosomy or disjunctions, meaning that although a whole X chromosome is not missing, portions of it are not present or are non-functional, rendering the chromosome useless.  Any disjunction seems to be completely sporadic and have yet to be attributed to any genetic link. The only thing known for sure is that during conception a portion of or the whole second sex chromosome is not conveyed to the zygote.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;7763055&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; Because at least one X chromosome is necessary for vital functions, this condition can only be found in females.&lt;br /&gt;
&lt;br /&gt;
== Clinical Manifestations ==&lt;br /&gt;
&lt;br /&gt;
The following are a list of characteristics and diseases which tend to accompany, be caused by, or be related to Turner Syndrome.  &lt;br /&gt;
&lt;br /&gt;
===Physical Attributes:===&lt;br /&gt;
*congenital malformations (heart, urinary system, face, neck, ears) &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*gonadal dysgenesis (causes estrogen deficiencies, which can cause infertility) &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*increased risk of fractures &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16624607&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low cortical bone mineral density (BMD) &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;/&amp;gt;&lt;br /&gt;
*middle ear infections &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*premature ovarian failure &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*short/reduced stature &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*webbed neck &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;17562588&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Decreased Cognition:===&lt;br /&gt;
*emotion processing difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;20014362&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*increased impulsivity &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;19750135&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low IQ score &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
*nonverbal learning disability (slow math calculations)&amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*social cognition difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*visuoperception/visuoconstruction deficit (identifying and locating is difficult due to poor visual working memory) &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Increased Risk of:===&lt;br /&gt;
*cirrhosis of the liver &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*colon and rectal cancers &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*hypothyroidism &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*inflammatory bowel disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
*morbidity and mortality &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*neurovascular disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*osteoporosis &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*ovarian failure &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*renal and gastrointestinal disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Prone to Develop Autoimmune Conditions:=== &lt;br /&gt;
*alopecia areata &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coeliac disease (CD) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12466343&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*psoriasis &amp;lt;ref name=&amp;quot;PMID12602969&amp;quot;/&amp;gt;&lt;br /&gt;
*thyroiditis &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*type 1 diabetes &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Cardiac Abnormalities:===&lt;br /&gt;
(most serious/life threatening medical problems created by Turner Syndrome)&lt;br /&gt;
*absence of portal vein &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16612647&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*aortic dilatation and dissection  &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*arrhythmias &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;17015510&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*arteriosclerosis &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*biscuspid aortic valves &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*coarctation of the aorta &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*hypertension &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*ischemic heart disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*mitral valve prolapsed &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== Diagnostic Procedures ==&lt;br /&gt;
&lt;br /&gt;
===Diagnostic Definition===&lt;br /&gt;
&lt;br /&gt;
[[File:Turner Syndrome X Chromosome Variations.jpg|thumb|right|Variations of the Second X Chromosome in Turner Syndrome]]&lt;br /&gt;
Turner syndrome is diagnosed through both an evaluation of physical features and by analysis of the second sex chromosome. The two criteria must be met for classification of Turner syndrome, an abnormality in the second sex chromosome must be found and the abnormality must be found to be expressed somehow in the individual's traits. Hence if physical characteristics are not present even when the cytogenetic criterion is met the patient is not diagnosed as having Turner syndrome.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; In Turner syndrome the second sex chromosome is either:&lt;br /&gt;
&lt;br /&gt;
*Completely absent (45,X)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Partially absent&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Forms an isochromosome (isoXq), possessing a long arm duplication (q) and being devoid of a short arm (p)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*In a ring formation (rX)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Is devoid of the homeobox gene, [[#Glossary | '''SHOX''']] (short stature homeobox), the deletion being prior to the junction between Xp22.2 and Xp22.3&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
Any of these variations of the second sex chromosome may occur with or without cell line [[#Glossary | '''mosaicism''']].&lt;br /&gt;
Turner syndrome may be diagnosed prenatally or postnatally, using this genetic diagnostic definition coupled with an appropriate phenotypic evaluation of the individual, as outlined below.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Prenatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
The prenatal diagnostic tool for Turner syndrome is karyotype screening and testing for phenotype abnormalities. If Turner syndrome is diagnosed prenatally, karyotype screening and an evaluation of the individual's traits should be conducted again postnatally for confirmation of this diagnosis. Turner syndrome is frequently diagnosed after karyotype screening during [[#Glossary | '''chorionic villous sampling''']] or [[#Glossary | '''amniocentesis''']].&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
The table below outlines various prenatal tests conducted and the indications that may be present in babies with Turner syndrome. Although these techniques and the indications they reveal may highlight Turner syndrome signs, they should not be used as sole diagnostic tools.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Technique'''&lt;br /&gt;
| '''Turner syndrome indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Ultrasound'''&lt;br /&gt;
|&lt;br /&gt;
*Increased nuchal translucency &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Cystic hygroma''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Coarctation''']] of the aorta &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Left-sided cardiac defects &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Brachycephaly''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Renal anomalies &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Polyhydramnios''']] &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Oligohydramnios''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Growth retardation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;10599686&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Turner Syndrome Test Showing Nuchal Translucency.gif|none|thumb|400px|Figure 2: Ultrasound Test Showing Nuchal Translucency.]]&lt;br /&gt;
[[File:Turner Syndrome Test Showing Cystic Hygroma.gif|none|thumb|400px|Figure 3: Ultrasound Test Showing Cystic Hygroma.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Maternal serum screening'''&lt;br /&gt;
|&lt;br /&gt;
*Abnormal [[#Glossary | '''α-fetoprotein''']] levels &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary | '''inhibin A''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary | '''hCG''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal unconjugated [[#Glossary | '''estriol''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
|[[File: TurnerSyndromeMaternalSerumSampling.jpg|none|thumb|400px|Figure 4: Maternal Serum Sampling.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
===Postnatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
In postnatal diagnosis, [[#Glossary | '''karyotype''']] investigation is undertaken for the individual. When a female presents with the following clinical findings, explained in table below, it is recommended that chromosomal analysis is undertaken, so that Turner syndrome may be eliminated&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;:&lt;br /&gt;
{|sstyle= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Age'''&lt;br /&gt;
| '''Phenotypic manifestations/indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Baby/infant'''&lt;br /&gt;
|&lt;br /&gt;
*Oedema of the hands or feet&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Nuchal folds &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Cardiac abnormalities for example aortic dilation, bicuspid aortic valve and aortic coarctation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Low hairline &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Low set ears &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Small mandible &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Gonadal dysgenesis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Child'''&lt;br /&gt;
| &lt;br /&gt;
*Short stature with low growth velocity &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Cubitus valgus''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Nail [[#Glossary | '''hypoplasia''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Hyperconvex uplifted nails &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Multiple pigmented benign birthmarks/moles &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Characteristic faecies &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Short fourth metacarpal &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*High arched palate &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Extensive and chronic inflammation/infection of the ear &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Hearing loss &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 4 year old child.jpg|left|thumb|150px|Figure 5: Four-year-old girl with Turner's syndrome. Note somewhat broad chest, prominent ears and ptosis, but otherwise normal proportion. There is no pronounced neck webbing or edema.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Adolescent/Adult'''&lt;br /&gt;
|&lt;br /&gt;
*Absence of breast development by 13 yr of age &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Pubertal arrest &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Primary or secondary amenorrhoea&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Unexplained short stature &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Renal abnormalities &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Immune disorders &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 35 year old woman.jpg|none|thumb|150px|Figure 6: A Thirtyfive-year-old woman with Turner's syndrome. Note increased carrying angle of arms, broad flat chest and sexual infantilism, but the lack of pronounced neck webbing or peripheral edema.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Since an absence of the physical signs of puberty and/or growth failure are often seen as normal variations in the population, these possible indications/symptoms of Turner syndrome may not be further investigated by many clinicians.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20361125&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; When karyotyping in order to exclude natural cell variation, a sufficient number of cells should be assessed. Whilst a sample of blood will often reveal Turner syndrome, an evaluation of a second tissue sample like the skin is recommend.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
[[#Glossary | '''DNA hybridisation''']] or [[#Glossary | '''fluorescent in situ hybridisation''']] should be conducted using a Y centromeric or short arm probe to detect for any additional Y or X chromosomal material.&lt;br /&gt;
If there is any of the Y chromosome present, this may initiate [[#Glossary | '''gonadoblastoma''']] development, another primary indicator of Turner syndrome. Hence the individual should have both a vaginal [[#Glossary | '''ultrasonograph''']] and colour [[#Glossary | '''Doppler sonograph''']] of their gonads to detect whether any Y chromosome fragments are present. These tests should be repeated regularly to monitor the patient for any malignancy, if a gonadectomy is not undertaken.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== Treatment ==&lt;br /&gt;
&lt;br /&gt;
=== Cardiac Treatment ===&lt;br /&gt;
&lt;br /&gt;
When patients are confirmed with Turner Syndrome, it is necessary to have a full cardiac evaulation including a physical exam and a echocardiogram. If cardiac abnormalities are found, monitoring by a cardiologist is recommended including regular blood pressure checks&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  Coarctation of the aorta and hypoplastic left heart are quite often very serious issues are need to be dealt with surgically&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
If no abnormalities are found, blood pressure in Turner Syndrome patients is still routinely checked and a follow up cardiac evaulation is recommended for girls around the age of puberty (12-15)&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Speech ===&lt;br /&gt;
&lt;br /&gt;
Many Turner Syndrome patients have trouble with their speech. It is necessary for them to be refered to an Ear, Nose and Throat specialist and to a speech therapist to work on improve any speech problems&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Management of Puberty and Growth ===&lt;br /&gt;
The main treatment for growth and pubertal development is Hormone Replacement Therapy. Growth Hormone is adminstered to girls with abnormal growth, resulting in postive growth that is consistent with the expected height of the patient. It is adminstered as early as 2 years of age, but more often in the age group of 9-12 which is in line with the growth spurt that occurs during puberty&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Natural estrogen and progesterone are administered to girls when they reach the age of puberty in early adolescence. The age at which this treatment commences varies between individuals, as does the dosage. The adminsteration of estrogen will begin the process of puberty in girls affected by Turner Syndrome and it is important that this begins around the same time as her peers&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. The use of estrogen is often held off if the patient is also undergoing GH treatment so that maximum growth can be achieved, as estrogen will induce the fusion of the epiphyses and limit longitudinal bone growth&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Around 10% of nonmosaic and 20% of mosaic women with Turner’s will have spontaneous menses (periods) and may not need to undergo Hormone Replacement to initiate puberty. Around 2-5% of these women will have the potential to fall pregnant naturally&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
=== Appearance ===&lt;br /&gt;
&lt;br /&gt;
Extreme neck webbing maybe worrying or uncomfortable to women with Turner’s and in some cases plastic surgery is undertaken to fix this problem. Also if convex gorwth of toenails occurs, surgery is conducted so that the woman can wear normal shoes&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Ongoing Adult Treatment ===&lt;br /&gt;
&lt;br /&gt;
Closely monitoring the health of Turner Syndrome adults is vital in the reduction of morbidity and mortality. An annual physical evalution should be undertaken which includes, blood pressure, heart auscultation, thyroid function, breast exam, and pap smear&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  &lt;br /&gt;
&lt;br /&gt;
Particular attention needs to be taken in the area of weight and obesity in Turner Syndrome women due to their high risk of developing diabetes, osteoporosis and hypertension. Patients are to be encouraged to have a healthy lifestyle including healthy eating and exercise&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Research ==&lt;br /&gt;
&lt;br /&gt;
===Current research===&lt;br /&gt;
&lt;br /&gt;
Since there is no preventative or cure, currently mainly research is being conducted into the areas of symptoms, possible treatments and risks involved with Turner syndrome.&lt;br /&gt;
&lt;br /&gt;
'''Growth hormone therapy in Turner syndrome: its affect on height, weight and stature.'''&lt;br /&gt;
*'''Growth hormone effect on body composition in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21720878&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research findings from this paper conclude that people with Turner syndrome have lower height, higher BMI and higher proportional sitting height and leg length than that of the normal population, no matter whether they undergo hormone replacement therapy or not.&lt;br /&gt;
*'''Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21619701&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study has concluded that all adults with Turner syndrome had a similar quality of life regardless of whether they have a higher stature due to undergoing growth hormone replacement therapy or not. It was hypothesised that height differences did not affect quality of life as the individuals seemed to adapt to their own life challenges.&lt;br /&gt;
*'''Growth hormone treatment for Turner syndrome in Australia reveals that younger age and increased dose interact to improve response.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21375553&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research from this study found that growth hormone therapy works most optimally if given earlier in life and at a high dose in the first year of treatment.&lt;br /&gt;
*'''Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21398400&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: Another study which confers that the early introduction of growth hormone therapy is most efficacious. However the individual's glucose metabolism should be monitored as the hormones may affect glucose tolerance transiently.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Oestrogen hormone replacement therapy in Turner syndrome: the adequate dosage and its effect on uterine development, breast development, bone mineral density and sexual characteristics.'''&lt;br /&gt;
*'''Growth hormone plus childhood low-dose estrogen in Turner's syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21449786&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study indicates that undergoing both growth hormone and oestrogen therapy together may help increase the efficacy of each (increasing growth in height and pubertal development) more than when they act alone. &lt;br /&gt;
*'''Estrogen requirements in girls with Turner syndrome; how low is enough for initiating puberty and uterine development?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21793702&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study assessed the minimal dosage of estrogen that is required to bring about desired pubertal development in girls with Turner syndrome.&lt;br /&gt;
*'''Puberty induction in Turner syndrome: results of oestrogen treatment on development of secondary sexual characteristics, uterine dimensions and serum hormone levels.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19200215&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: It was found that uterus of women with Turner syndrome who had undergone oestrogen was underdeveloped, however the exact cause of this needs to be further researched.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Pregnancy and Turner syndrome: evaluation and treatment of risks involved with pregnancy for: the mothers of Turner syndrome babies, for individuals with Turner syndrome and for the babies of individuals with Turner syndrome.'''&lt;br /&gt;
*'''Familial occurrence of Turner syndrome: casual event or increased risk?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21648298&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research examined whether there is a higher probability of having a second child with Turner syndrome and concluded that there is evidence in the small cohort that they used of a greater probability. It is suggested that a larger study be conducted to look further into these findings.that &lt;br /&gt;
*'''Obstetric Outcomes in Women with Turner Karyotype.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21865365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: In this study it was found that women with Turner syndrome had shorter pregnancies than that of a control group, but no other marked difference was observed between the groups.&lt;br /&gt;
*'''Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21496813&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This paper examined a number of pregnant women with Turner syndrome, some who incidentally went through puberty even though they had no hormone replacement therapy and another group that had undertaken hormone replacement therapy. Though there were not many complications in either group, the groups were small in number and one mother did have cardiovascular difficulties later on in life. Hence a thorough examination of pregnant Turner syndrome women should be conducted prior to conception.&lt;br /&gt;
*'''Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20923275&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This article assessed the prognosis of pregnant women with Turner syndrome. They concluded that spontaneous pregnancy increases the risk of the baby having phenotypic and chromosomal abnormalities compared with women having assisted reproductive therapies.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Future research=== &lt;br /&gt;
&lt;br /&gt;
Future research needs to be conducted in the following areas: to follow up on the suggestions given in the conclusions of current research papers as outlined in the prior section and also into how the care system is functioning for Turner syndrome individuals as outlined below.&lt;br /&gt;
&lt;br /&gt;
*'''Medical Care of Girls with Turner Syndrome: Where are we Lacking?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21454226&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research found that a large proportion (&amp;gt;50%) of people with Turner syndrome are not given adequate information upon diagnosis or screenings for complications and symptoms. Therefore it is suggested in order to rectify this issue that more education should be given to physicians on the syndrome&lt;br /&gt;
*'''Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21752892&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; and '''Turner's syndrome requires multidisciplinary approach.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19514616&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: These article evaluate the need for a multidisciplinary approach to treatment of Turner syndrome. Since the symptoms can be wide ranging and severe, it is difficult but necessary for all of them to be examined in each individual. Hence a greater care plan for individuals should be implemented upon diagnosis.&lt;br /&gt;
&lt;br /&gt;
== Glossary ==&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Alpha-fetoprotein''' is a protein with an unknown function. It makes up, up to one third of the protein serum levels found in the second trimester of pregnancy and in neural tube defects, these alpha-fetoprotein levels are elevated. &amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Amniocentesis''' is a prenatal diagnostic tool. The procedure involves the sampling of amniotic fluid from the amniotic sac using a syringe, that is then tested for a number of abnormalities. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Brachycephaly''' is a condition where the coronal suture of the skull fuses prematurely. Since the skull is unable to expand any further in the anterior-posterior directions due to this closure, it grows to an abnormal size in in the lateral dimension.&amp;lt;ref&amp;gt;Flint, P 2010, ''Flint: Cummings Otolaryngology: Head &amp;amp; Neck Surgery, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-323-05283-2..00186-5--s0045&amp;amp;isbn=978-0-323-05283-2&amp;amp;uniqId=282726024-5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Coarctation''' of the aorta is an abnormality where the aorta is constricted at one or various sections. This can be caused by genetic and/or environmental factors.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Chorionic villous sampling''' is a prenatal diagnostic tool which can be used from 7 weeks after fertilisation. It is used to test for a number of chromosomal abnormalities including X-linked and metabolic disorders.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Cystic hygroma''' is a prenatal abnormality where fluid builds up in the posterior portion of the neck. The body may or may not relieve itself naturally of this accumulation of fluid after birth. &amp;lt;ref&amp;gt;Gabbe, S 2007, ''Gabbe: Obstetrics: Normal and Problem Pregnancies, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-443-06930-7..50011-6--cesec51&amp;amp;isbn=978-0-443-06930-7&amp;amp;uniqId=282726024-10&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''DNA-DNA hybridisation''' is a technique used to compare the similarities and differences between two sets of genes.&amp;lt;ref&amp;gt;Long, S 2009, ''Bradley: Neurology in Clinical Practice, 5th ed.Long: Principles and Practice of Pediatric Infectious Diseases Revised Reprint, 3rd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X&amp;amp;isbn=978-0-7020-3468-8&amp;amp;uniqId=282726024-19#4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Doppler sonography''' uses the doppler effect to help image and measure blood flow pattern in the patient.&amp;lt;ref&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Estriol''' is a hormone that is produced in greater amounts during pregnancy especially in the second and third trimester. One of its main functions is to assist with blood flow in the placenta and uterus.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Gametes''' are reproductive (sex) cells (ie: eggs and sperm) that can unite to form a new cell called a zygote. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6&amp;amp;isbn=978-0-443-06811-9&amp;amp;uniqId=283289096-4#4-u1.0-B978-0-443-06811-9..10001-6--b0020&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Gonadoblastoma''' is an abnormal proliferation of gonadal cells, that may or may not be malignant.&amp;lt;ref&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Haploid''' is the status of a cell having only a single set of unpaired chromosomes, or half the number of chromosomes contained in typical body cells. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10019-3--sec5&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208594256&amp;amp;uniqId=283289096-7#4-u1.0-B978-0-443-06811-9..10019-3--sec5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''hCG''' is the abbreviation for human chorionic gonadotropin. It is a hormone that functions in the early stage of pregnancy to maintain the blood supply to the corpus luteum.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Homologous chromosomes''' are pairs of chromosomes, one each obtained from maternal and paternal gametes.  46 total chromosome complements are within an organism, 22 pairs of which are homologous chromosomes (called autosomes); the other 2 chromosomes are the sex chromosomes. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6--sec7&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208599219&amp;amp;uniqId=283289096-10#4-u1.0-B978-0-443-06811-9..10001-6--sec9&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
'''Hypoplasia''' is when an organ or tissue is not completely developed.&amp;lt;ref&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Inhibin A''' is a peptide produced by the ovaries and acts to restrain the production of follicle-stimulating hormone.&amp;lt;ref&amp;gt;Melmed, S 2011, ''Melmed: Williams Textbook of Endocrinology, 12th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0324-5..00045-6&amp;amp;isbn=978-1-4377-0324-5&amp;amp;uniqId=282726024-25 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Karyotype''' is an individual's set of chromosomes, both their number and appearance.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Meiosis''' is the specific process of cell division within sex cells which halves the number of chromosomes in the cells through via two cell divisions; this is specific to germ cells only, creating haploid gametes (sex cells) from diploid cells. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
'''Monosomy''' is a condition wherein a specific chromosome is completely missing within one gamete that combines with a normal gamete to form a zygote; a chromosome has no homologue, or matching chromosome, to pair with. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6--sec15&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208595822&amp;amp;uniqId=283289096-8#4-u1.0-B978-0-443-06811-9..10001-6--sec41&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Mosaicism''' is when a particular type or all cells of an individual do not have the same genetic makeup. This is caused by a mutation during embryonic cell division.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Nondisjunction''' is the failure of chromosome pairs to separate entirely during either stage of Meiosis. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec27&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--spara33&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Oligohydramnios''' is a prenatal condition, where there is an insufficient amount of amniotic fluid.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Polyhydramnios''' is a prenatal condition, where there is an excessive amount of amniotic fluid.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Random assortment'''&lt;br /&gt;
&lt;br /&gt;
'''Recombination''' is the process which by genetic material is crossed over and switched between two segments of DNA which adds to the genetic diversity of the genome.&lt;br /&gt;
&lt;br /&gt;
'''SHOX gene''' is the short stature homeobox gene, that when deficient frequently results in short stature.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Sister chromatids'''&lt;br /&gt;
&lt;br /&gt;
'''Ultrasonography''' is a medical technique that employs ultrasound frequencies to visualise a patient's internal bodily structure.&amp;lt;ref&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== References ==&lt;br /&gt;
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{{2011Projects}}&lt;/div&gt;</summary>
		<author><name>Z3217043</name></author>
	</entry>
	<entry>
		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=73763</id>
		<title>2011 Group Project 1</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=73763"/>
		<updated>2011-09-30T11:01:09Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: /* Increased Risk of: */&lt;/p&gt;
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== Turner Syndrome ==&lt;br /&gt;
&lt;br /&gt;
--[[User:S8600021|Mark Hill]] 10:44, 8 September 2011 (EST) Some of the existing sub-sections have appropriate content, but there are also empty sub-sections, a total lack of referencing/citation and no glossary. &lt;br /&gt;
* The referencing issue needs urgent  progress.&lt;br /&gt;
* Existing figures/table are appropriate. Table appears to be directly used from an uncited source.&lt;br /&gt;
* There needs to be more images in this work.&lt;br /&gt;
* Where is the student drawn figure?&lt;br /&gt;
* Read http://embryology.med.unsw.edu.au/embryology/index.php?title=Help:Reference_Tutorial#Multiple%20Instances%20on%20Page&lt;br /&gt;
&lt;br /&gt;
== Introduction ==&lt;br /&gt;
&lt;br /&gt;
Turner syndrome, named after Henry Hubert Turner who first described the syndrome in his paper in 1938,&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;4557013&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; is one of the most commonly occuring chromosomal disorders. It is caused by complete or partial X monosomy in some or all cells and occurs in approximately 1 in 2000 live female births, however the morbidity rate of spontaneous abortions is 10% and only about 1% of fetuses survive to term. &lt;br /&gt;
&lt;br /&gt;
During normal fetal development, each ovary contain as many as 7 million oocytes. The oocytes gradually reduced to 400,000 during menarche and during menopause fewer than 10,000 remains. However, in Turner syndrome, the ovaries develop normally during embryogenesis but the absence of the second X chromosome leads to an accelerated loss of oocytes, which is complete by the time the infant, is aged 2. Genetically menopause occurs before menarche and the ovaries are reduced to atrophic fibrous strands, devoid of ova and follicles (streak ovaries). Development of somatic (nongonadal) tissues that reside on the missing/abnormal X chromosome are also severely affected. For example short stature is caused by a deletion of the Xp chromosome and the deletion of Xq causes gonadal dysfunction &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt; 6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
 &lt;br /&gt;
The most frequent clinical feature is short stature and gonadal dysgenesis. Other features may include coarctation of the aorta, renal anomalies, neck webbing, and lymphoedema. The affected organ systems and tissues may are effected to a lesser or greater extent amongst that are affected by turner syndrome. Each person who has turner syndrome all vary in their clinical phenotype. In recent years there has been increased interest in Turner Syndrome due to the introduction of growth hormone treatment. There has been marked improvement in the understanding of this condition as advances in molecular genetic techniques occur. However, there still further research to be completed. A multidisciplinary approach to treatment is important to improve the quality of life of girls with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
 &lt;br /&gt;
[[File:Karyotype.jpg|200px|thumb|left|The arrow indicates the presence of only one X chromosome in Karyotype]]&lt;br /&gt;
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== Epidemiology ==&lt;br /&gt;
&lt;br /&gt;
Turner Syndrome affects about 1 in 2000 live-born females. There are three types of karyotypic abnormalities but the most frequently seen is where the entire X chromosome is missing resulting in 45 X karyotype. The remaining third have structural abnormalities of the X chromosomes, and two thirds are mosaics. Whereby, the maternal X is retained in two-thirds of women and the paternal X in the remainder.&lt;br /&gt;
The phenotype of Turner Syndrome is varies but it involves anomalies of the sex chromosome. It could be caused by the limited amount of genetic material in these abnormal chromosomes. Turner Syndrome can be transmitted from mother to daughter, and thus can it could be described as a heredity linked syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The loss of one of the sex chromosomes of turner syndrome occurs after the zygote has formed or just after the fusion of the gametes. In 70-80% of cases the retained X is from the mother. In such circumstances has lead to the different phenotypic expression of the genes present on the X chromosome depending upon if it came from the mother or father. &lt;br /&gt;
The morphological differences from those retaining the maternal compared to retaining the paternal X is have shown to have a greater incidence of cardiovascular anomalies and neck webbing. &lt;br /&gt;
The missing sex chromosome could be either an X or a Y. This has clinical implications because if the Y material is present there is a risk of up to 30% of gonadoblastoma developing in the dysgenetic gonads. This is because the 'gonadoblastoma locus' is on the Y chromosome which is believed to be situated on the long arm of the Y just below the centromere.&lt;br /&gt;
Another factor affecting the phenotype in Turner syndrome is the inactivation of the abnormal X chromosomes. In a normal fetus there should be only one X chromosome that is active in each cell &amp;lt;ref&amp;gt;Wade, Nicholas (2009-09-15). '''&amp;quot;New Clues to Sex Anomalies in How Y Chromosomes Are Copied&amp;quot;'''. The New York Times. Retrieved 2010-05-26. http://www.nytimes.com/2009/09/15/science/15chrom.html?pagewanted=1&amp;amp;_r=1&amp;amp;hpw&amp;lt;/ref&amp;gt;.&lt;br /&gt;
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[[File:Stats abnormal.jpg]]  &lt;br /&gt;
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Abnormalities associated with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
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== Etiology ==&lt;br /&gt;
[[File:nondisjunction.jpg|850px|thumb|right|alt text|This figure shows the progeny created from normal disjunction (A), and non-disjunction during both Meiosis I (B) and Meiosis II (C).]]&lt;br /&gt;
&lt;br /&gt;
Causation of Turner Syndrome (TS) can be traced back to the stages of sex-cell development.  When sex cells divide through a process called [[#Glossary | '''meiosis''']] to create [[#Glossary | '''gametes''']], either a [[#Glossary | '''haploid''']] egg (for females) or sperm (for males) two divisions occur, Meiosis I and Meiosis II.  Meiosis is the main process which helps create the vast genetic diversity within all populations by allowing [[#Glossary | '''recombination''']] and [[#Glossary | '''random assortment''']].  During Meiosis I [[#Glossary | '''homologous chromosomes''']] are separated; following Meiosis I, [[#Glossary | '''sister chromatids''']] separate during Meiosis II.  If during either stage of Meiosis I or II the homologous chromosomes or sister chromatids, respectively, do not fully separate, a phenomenon can occur called [[#Glossary | '''nondisjunction''']].  Nondisjunction causes an uneven distribution of genetic material to each daughter nuclei.  When an uneven distribution is such that one of the gametes does not have any of a chromosome, it can combine with another normal gamete to create a fertilized egg with only one chromosome as opposed to the normal two that are found in human cells; this is called a [[#Glossary | '''monosomy''']].  When this occurs in the sex chromosomes leaving only a single X chromosome (X0 genotype) Turner Syndrome is created, leaving only 45 chromosomes in the zygote rather than the normal 46.  &lt;br /&gt;
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[[File:22+23=45.jpg|350px|thumb|left|22 chromosomal egg + 23 chromosomal sperm = 45 chromsomes in zygote instead of normal 46.]]&lt;br /&gt;
Turner Syndrome can also be created by partial monosomy or disjunctions, meaning that although a whole X chromosome is not missing, portions of it are not present or are non-functional, rendering the chromosome useless.  Any disjunction seems to be completely sporadic and have yet to be attributed to any genetic link. The only thing known for sure is that during conception a portion of or the whole second sex chromosome is not conveyed to the zygote.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;7763055&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; Because at least one X chromosome is necessary for vital functions, this condition can only be found in females.&lt;br /&gt;
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== Clinical Manifestations ==&lt;br /&gt;
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The following are a list of characteristics and diseases which tend to accompany, be caused by, or be related to Turner Syndrome.  &lt;br /&gt;
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===Physical Attributes:===&lt;br /&gt;
*congenital malformations (heart, urinary system, face, neck, ears) &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*gonadal dysgenesis (causes estrogen deficiencies, which can cause infertility) &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*increased risk of fractures &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16624607&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low cortical bone mineral density (BMD) &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;/&amp;gt;&lt;br /&gt;
*middle ear infections &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*premature ovarian failure &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*short/reduced stature &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*webbed neck &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;17562588&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Decreased Cognition:===&lt;br /&gt;
*emotion processing difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;20014362&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*increased impulsivity &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;19750135&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low IQ score &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
*nonverbal learning disability (slow math calculations)&amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*social cognition difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*visuoperception/visuoconstruction deficit (identifying and locating is difficult due to poor visual working memory) &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
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===Increased Risk of:===&lt;br /&gt;
*cirrhosis of the liver &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*colon and rectal cancers &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*hypothyroidism &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*inflammatory bowel disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
*morbidity and mortality &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*neurovascular disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*osteoporosis &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*ovarian failure &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*renal and gastrointestinal disease &amp;lt;ref name=&amp;quot;PMID11844747&amp;quot;/&amp;gt;&lt;br /&gt;
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===Prone to Develop Autoimmune Conditions:=== &lt;br /&gt;
*alopecia areata &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coeliac disease (CD) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12466343&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*psoriasis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*thyroiditis &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*type 1 diabetes &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Cardiac Abnormalities:===&lt;br /&gt;
(most serious/life threatening medical problems created by Turner Syndrome)&lt;br /&gt;
*absence of portal vein &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16612647&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*aortic dilatation and dissection  &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*arrhythmias &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;17015510&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*arteriosclerosis &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*biscuspid aortic valves &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*coarctation of the aorta &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*hypertension &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*ischemic heart disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*mitral valve prolapsed &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
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== Diagnostic Procedures ==&lt;br /&gt;
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===Diagnostic Definition===&lt;br /&gt;
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[[File:Turner Syndrome X Chromosome Variations.jpg|thumb|right|Variations of the Second X Chromosome in Turner Syndrome]]&lt;br /&gt;
Turner syndrome is diagnosed through both an evaluation of physical features and by analysis of the second sex chromosome. The two criteria must be met for classification of Turner syndrome, an abnormality in the second sex chromosome must be found and the abnormality must be found to be expressed somehow in the individual's traits. Hence if physical characteristics are not present even when the cytogenetic criterion is met the patient is not diagnosed as having Turner syndrome.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; In Turner syndrome the second sex chromosome is either:&lt;br /&gt;
&lt;br /&gt;
*Completely absent (45,X)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Partially absent&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Forms an isochromosome (isoXq), possessing a long arm duplication (q) and being devoid of a short arm (p)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*In a ring formation (rX)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Is devoid of the homeobox gene, [[#Glossary | '''SHOX''']] (short stature homeobox), the deletion being prior to the junction between Xp22.2 and Xp22.3&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
Any of these variations of the second sex chromosome may occur with or without cell line [[#Glossary | '''mosaicism''']].&lt;br /&gt;
Turner syndrome may be diagnosed prenatally or postnatally, using this genetic diagnostic definition coupled with an appropriate phenotypic evaluation of the individual, as outlined below.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
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===Prenatal Diagnosis===&lt;br /&gt;
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The prenatal diagnostic tool for Turner syndrome is karyotype screening and testing for phenotype abnormalities. If Turner syndrome is diagnosed prenatally, karyotype screening and an evaluation of the individual's traits should be conducted again postnatally for confirmation of this diagnosis. Turner syndrome is frequently diagnosed after karyotype screening during [[#Glossary | '''chorionic villous sampling''']] or [[#Glossary | '''amniocentesis''']].&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
The table below outlines various prenatal tests conducted and the indications that may be present in babies with Turner syndrome. Although these techniques and the indications they reveal may highlight Turner syndrome signs, they should not be used as sole diagnostic tools.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
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{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Technique'''&lt;br /&gt;
| '''Turner syndrome indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Ultrasound'''&lt;br /&gt;
|&lt;br /&gt;
*Increased nuchal translucency &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Cystic hygroma''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Coarctation''']] of the aorta &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Left-sided cardiac defects &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Brachycephaly''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Renal anomalies &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Polyhydramnios''']] &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Oligohydramnios''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Growth retardation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;10599686&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Turner Syndrome Test Showing Nuchal Translucency.gif|none|thumb|400px|Figure 2: Ultrasound Test Showing Nuchal Translucency.]]&lt;br /&gt;
[[File:Turner Syndrome Test Showing Cystic Hygroma.gif|none|thumb|400px|Figure 3: Ultrasound Test Showing Cystic Hygroma.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Maternal serum screening'''&lt;br /&gt;
|&lt;br /&gt;
*Abnormal [[#Glossary | '''α-fetoprotein''']] levels &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary | '''inhibin A''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary | '''hCG''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal unconjugated [[#Glossary | '''estriol''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
|[[File: TurnerSyndromeMaternalSerumSampling.jpg|none|thumb|400px|Figure 4: Maternal Serum Sampling.]]&lt;br /&gt;
|}&lt;br /&gt;
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===Postnatal Diagnosis===&lt;br /&gt;
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In postnatal diagnosis, [[#Glossary | '''karyotype''']] investigation is undertaken for the individual. When a female presents with the following clinical findings, explained in table below, it is recommended that chromosomal analysis is undertaken, so that Turner syndrome may be eliminated&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;:&lt;br /&gt;
{|sstyle= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Age'''&lt;br /&gt;
| '''Phenotypic manifestations/indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Baby/infant'''&lt;br /&gt;
|&lt;br /&gt;
*Oedema of the hands or feet&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Nuchal folds &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Cardiac abnormalities for example aortic dilation, bicuspid aortic valve and aortic coarctation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Low hairline &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Low set ears &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Small mandible &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Gonadal dysgenesis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Child'''&lt;br /&gt;
| &lt;br /&gt;
*Short stature with low growth velocity &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Cubitus valgus''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Nail [[#Glossary | '''hypoplasia''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Hyperconvex uplifted nails &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Multiple pigmented benign birthmarks/moles &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Characteristic faecies &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Short fourth metacarpal &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*High arched palate &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Extensive and chronic inflammation/infection of the ear &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Hearing loss &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 4 year old child.jpg|left|thumb|150px|Figure 5: Four-year-old girl with Turner's syndrome. Note somewhat broad chest, prominent ears and ptosis, but otherwise normal proportion. There is no pronounced neck webbing or edema.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Adolescent/Adult'''&lt;br /&gt;
|&lt;br /&gt;
*Absence of breast development by 13 yr of age &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Pubertal arrest &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Primary or secondary amenorrhoea&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Unexplained short stature &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Renal abnormalities &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Immune disorders &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 35 year old woman.jpg|none|thumb|150px|Figure 6: A Thirtyfive-year-old woman with Turner's syndrome. Note increased carrying angle of arms, broad flat chest and sexual infantilism, but the lack of pronounced neck webbing or peripheral edema.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Since an absence of the physical signs of puberty and/or growth failure are often seen as normal variations in the population, these possible indications/symptoms of Turner syndrome may not be further investigated by many clinicians.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20361125&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; When karyotyping in order to exclude natural cell variation, a sufficient number of cells should be assessed. Whilst a sample of blood will often reveal Turner syndrome, an evaluation of a second tissue sample like the skin is recommend.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
[[#Glossary | '''DNA hybridisation''']] or [[#Glossary | '''fluorescent in situ hybridisation''']] should be conducted using a Y centromeric or short arm probe to detect for any additional Y or X chromosomal material.&lt;br /&gt;
If there is any of the Y chromosome present, this may initiate [[#Glossary | '''gonadoblastoma''']] development, another primary indicator of Turner syndrome. Hence the individual should have both a vaginal [[#Glossary | '''ultrasonograph''']] and colour [[#Glossary | '''Doppler sonograph''']] of their gonads to detect whether any Y chromosome fragments are present. These tests should be repeated regularly to monitor the patient for any malignancy, if a gonadectomy is not undertaken.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== Treatment ==&lt;br /&gt;
&lt;br /&gt;
=== Cardiac Treatment ===&lt;br /&gt;
&lt;br /&gt;
When patients are confirmed with Turner Syndrome, it is necessary to have a full cardiac evaulation including a physical exam and a echocardiogram. If cardiac abnormalities are found, monitoring by a cardiologist is recommended including regular blood pressure checks&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  Coarctation of the aorta and hypoplastic left heart are quite often very serious issues are need to be dealt with surgically&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
If no abnormalities are found, blood pressure in Turner Syndrome patients is still routinely checked and a follow up cardiac evaulation is recommended for girls around the age of puberty (12-15)&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Speech ===&lt;br /&gt;
&lt;br /&gt;
Many Turner Syndrome patients have trouble with their speech. It is necessary for them to be refered to an Ear, Nose and Throat specialist and to a speech therapist to work on improve any speech problems&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Management of Puberty and Growth ===&lt;br /&gt;
The main treatment for growth and pubertal development is Hormone Replacement Therapy. Growth Hormone is adminstered to girls with abnormal growth, resulting in postive growth that is consistent with the expected height of the patient. It is adminstered as early as 2 years of age, but more often in the age group of 9-12 which is in line with the growth spurt that occurs during puberty&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Natural estrogen and progesterone are administered to girls when they reach the age of puberty in early adolescence. The age at which this treatment commences varies between individuals, as does the dosage. The adminsteration of estrogen will begin the process of puberty in girls affected by Turner Syndrome and it is important that this begins around the same time as her peers&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. The use of estrogen is often held off if the patient is also undergoing GH treatment so that maximum growth can be achieved, as estrogen will induce the fusion of the epiphyses and limit longitudinal bone growth&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Around 10% of nonmosaic and 20% of mosaic women with Turner’s will have spontaneous menses (periods) and may not need to undergo Hormone Replacement to initiate puberty. Around 2-5% of these women will have the potential to fall pregnant naturally&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
=== Appearance ===&lt;br /&gt;
&lt;br /&gt;
Extreme neck webbing maybe worrying or uncomfortable to women with Turner’s and in some cases plastic surgery is undertaken to fix this problem. Also if convex gorwth of toenails occurs, surgery is conducted so that the woman can wear normal shoes&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Ongoing Adult Treatment ===&lt;br /&gt;
&lt;br /&gt;
Closely monitoring the health of Turner Syndrome adults is vital in the reduction of morbidity and mortality. An annual physical evalution should be undertaken which includes, blood pressure, heart auscultation, thyroid function, breast exam, and pap smear&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  &lt;br /&gt;
&lt;br /&gt;
Particular attention needs to be taken in the area of weight and obesity in Turner Syndrome women due to their high risk of developing diabetes, osteoporosis and hypertension. Patients are to be encouraged to have a healthy lifestyle including healthy eating and exercise&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Research ==&lt;br /&gt;
&lt;br /&gt;
===Current research===&lt;br /&gt;
&lt;br /&gt;
Since there is no preventative or cure, currently mainly research is being conducted into the areas of symptoms, possible treatments and risks involved with Turner syndrome.&lt;br /&gt;
&lt;br /&gt;
'''Growth hormone therapy in Turner syndrome: its affect on height, weight and stature.'''&lt;br /&gt;
*'''Growth hormone effect on body composition in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21720878&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research findings from this paper conclude that people with Turner syndrome have lower height, higher BMI and higher proportional sitting height and leg length than that of the normal population, no matter whether they undergo hormone replacement therapy or not.&lt;br /&gt;
*'''Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21619701&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study has concluded that all adults with Turner syndrome had a similar quality of life regardless of whether they have a higher stature due to undergoing growth hormone replacement therapy or not. It was hypothesised that height differences did not affect quality of life as the individuals seemed to adapt to their own life challenges.&lt;br /&gt;
*'''Growth hormone treatment for Turner syndrome in Australia reveals that younger age and increased dose interact to improve response.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21375553&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research from this study found that growth hormone therapy works most optimally if given earlier in life and at a high dose in the first year of treatment.&lt;br /&gt;
*'''Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21398400&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: Another study which confers that the early introduction of growth hormone therapy is most efficacious. However the individual's glucose metabolism should be monitored as the hormones may affect glucose tolerance transiently.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Oestrogen hormone replacement therapy in Turner syndrome: the adequate dosage and its effect on uterine development, breast development, bone mineral density and sexual characteristics.'''&lt;br /&gt;
*'''Growth hormone plus childhood low-dose estrogen in Turner's syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21449786&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study indicates that undergoing both growth hormone and oestrogen therapy together may help increase the efficacy of each (increasing growth in height and pubertal development) more than when they act alone. &lt;br /&gt;
*'''Estrogen requirements in girls with Turner syndrome; how low is enough for initiating puberty and uterine development?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21793702&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study assessed the minimal dosage of estrogen that is required to bring about desired pubertal development in girls with Turner syndrome.&lt;br /&gt;
*'''Puberty induction in Turner syndrome: results of oestrogen treatment on development of secondary sexual characteristics, uterine dimensions and serum hormone levels.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19200215&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: It was found that uterus of women with Turner syndrome who had undergone oestrogen was underdeveloped, however the exact cause of this needs to be further researched.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Pregnancy and Turner syndrome: evaluation and treatment of risks involved with pregnancy for: the mothers of Turner syndrome babies, for individuals with Turner syndrome and for the babies of individuals with Turner syndrome.'''&lt;br /&gt;
*'''Familial occurrence of Turner syndrome: casual event or increased risk?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21648298&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research examined whether there is a higher probability of having a second child with Turner syndrome and concluded that there is evidence in the small cohort that they used of a greater probability. It is suggested that a larger study be conducted to look further into these findings.that &lt;br /&gt;
*'''Obstetric Outcomes in Women with Turner Karyotype.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21865365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: In this study it was found that women with Turner syndrome had shorter pregnancies than that of a control group, but no other marked difference was observed between the groups.&lt;br /&gt;
*'''Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21496813&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This paper examined a number of pregnant women with Turner syndrome, some who incidentally went through puberty even though they had no hormone replacement therapy and another group that had undertaken hormone replacement therapy. Though there were not many complications in either group, the groups were small in number and one mother did have cardiovascular difficulties later on in life. Hence a thorough examination of pregnant Turner syndrome women should be conducted prior to conception.&lt;br /&gt;
*'''Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20923275&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This article assessed the prognosis of pregnant women with Turner syndrome. They concluded that spontaneous pregnancy increases the risk of the baby having phenotypic and chromosomal abnormalities compared with women having assisted reproductive therapies.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Future research=== &lt;br /&gt;
&lt;br /&gt;
Future research needs to be conducted in the following areas: to follow up on the suggestions given in the conclusions of current research papers as outlined in the prior section and also into how the care system is functioning for Turner syndrome individuals as outlined below.&lt;br /&gt;
&lt;br /&gt;
*'''Medical Care of Girls with Turner Syndrome: Where are we Lacking?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21454226&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research found that a large proportion (&amp;gt;50%) of people with Turner syndrome are not given adequate information upon diagnosis or screenings for complications and symptoms. Therefore it is suggested in order to rectify this issue that more education should be given to physicians on the syndrome&lt;br /&gt;
*'''Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21752892&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; and '''Turner's syndrome requires multidisciplinary approach.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19514616&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: These article evaluate the need for a multidisciplinary approach to treatment of Turner syndrome. Since the symptoms can be wide ranging and severe, it is difficult but necessary for all of them to be examined in each individual. Hence a greater care plan for individuals should be implemented upon diagnosis.&lt;br /&gt;
&lt;br /&gt;
== Glossary ==&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Alpha-fetoprotein''' is a protein with an unknown function. It makes up, up to one third of the protein serum levels found in the second trimester of pregnancy and in neural tube defects, these alpha-fetoprotein levels are elevated. &amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Amniocentesis''' is a prenatal diagnostic tool. The procedure involves the sampling of amniotic fluid from the amniotic sac using a syringe, that is then tested for a number of abnormalities. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Brachycephaly''' is a condition where the coronal suture of the skull fuses prematurely. Since the skull is unable to expand any further in the anterior-posterior directions due to this closure, it grows to an abnormal size in in the lateral dimension.&amp;lt;ref&amp;gt;Flint, P 2010, ''Flint: Cummings Otolaryngology: Head &amp;amp; Neck Surgery, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-323-05283-2..00186-5--s0045&amp;amp;isbn=978-0-323-05283-2&amp;amp;uniqId=282726024-5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Coarctation''' of the aorta is an abnormality where the aorta is constricted at one or various sections. This can be caused by genetic and/or environmental factors.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Chorionic villous sampling''' is a prenatal diagnostic tool which can be used from 7 weeks after fertilisation. It is used to test for a number of chromosomal abnormalities including X-linked and metabolic disorders.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
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'''Cystic hygroma''' is a prenatal abnormality where fluid builds up in the posterior portion of the neck. The body may or may not relieve itself naturally of this accumulation of fluid after birth. &amp;lt;ref&amp;gt;Gabbe, S 2007, ''Gabbe: Obstetrics: Normal and Problem Pregnancies, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-443-06930-7..50011-6--cesec51&amp;amp;isbn=978-0-443-06930-7&amp;amp;uniqId=282726024-10&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''DNA-DNA hybridisation''' is a technique used to compare the similarities and differences between two sets of genes.&amp;lt;ref&amp;gt;Long, S 2009, ''Bradley: Neurology in Clinical Practice, 5th ed.Long: Principles and Practice of Pediatric Infectious Diseases Revised Reprint, 3rd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X&amp;amp;isbn=978-0-7020-3468-8&amp;amp;uniqId=282726024-19#4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Doppler sonography''' uses the doppler effect to help image and measure blood flow pattern in the patient.&amp;lt;ref&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Estriol''' is a hormone that is produced in greater amounts during pregnancy especially in the second and third trimester. One of its main functions is to assist with blood flow in the placenta and uterus.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Gametes''' are reproductive (sex) cells (ie: eggs and sperm) that can unite to form a new cell called a zygote. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6&amp;amp;isbn=978-0-443-06811-9&amp;amp;uniqId=283289096-4#4-u1.0-B978-0-443-06811-9..10001-6--b0020&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Gonadoblastoma''' is an abnormal proliferation of gonadal cells, that may or may not be malignant.&amp;lt;ref&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Haploid''' is the status of a cell having only a single set of unpaired chromosomes, or half the number of chromosomes contained in typical body cells. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10019-3--sec5&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208594256&amp;amp;uniqId=283289096-7#4-u1.0-B978-0-443-06811-9..10019-3--sec5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''hCG''' is the abbreviation for human chorionic gonadotropin. It is a hormone that functions in the early stage of pregnancy to maintain the blood supply to the corpus luteum.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Homologous chromosomes''' are pairs of chromosomes, one each obtained from maternal and paternal gametes.  46 total chromosome complements are within an organism, 22 pairs of which are homologous chromosomes (called autosomes); the other 2 chromosomes are the sex chromosomes. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6--sec7&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208599219&amp;amp;uniqId=283289096-10#4-u1.0-B978-0-443-06811-9..10001-6--sec9&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
'''Hypoplasia''' is when an organ or tissue is not completely developed.&amp;lt;ref&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
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'''Inhibin A''' is a peptide produced by the ovaries and acts to restrain the production of follicle-stimulating hormone.&amp;lt;ref&amp;gt;Melmed, S 2011, ''Melmed: Williams Textbook of Endocrinology, 12th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0324-5..00045-6&amp;amp;isbn=978-1-4377-0324-5&amp;amp;uniqId=282726024-25 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Karyotype''' is an individual's set of chromosomes, both their number and appearance.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Meiosis''' is the specific process of cell division within sex cells which halves the number of chromosomes in the cells through via two cell divisions; this is specific to germ cells only, creating haploid gametes (sex cells) from diploid cells. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
'''Monosomy''' is a condition wherein a specific chromosome is completely missing within one gamete that combines with a normal gamete to form a zygote; a chromosome has no homologue, or matching chromosome, to pair with. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6--sec15&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208595822&amp;amp;uniqId=283289096-8#4-u1.0-B978-0-443-06811-9..10001-6--sec41&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Mosaicism''' is when a particular type or all cells of an individual do not have the same genetic makeup. This is caused by a mutation during embryonic cell division.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Nondisjunction''' is the failure of chromosome pairs to separate entirely during either stage of Meiosis. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec27&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--spara33&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Oligohydramnios''' is a prenatal condition, where there is an insufficient amount of amniotic fluid.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Polyhydramnios''' is a prenatal condition, where there is an excessive amount of amniotic fluid.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Random assortment'''&lt;br /&gt;
&lt;br /&gt;
'''Recombination''' is the process which by genetic material is crossed over and switched between two segments of DNA which adds to the genetic diversity of the genome.&lt;br /&gt;
&lt;br /&gt;
'''SHOX gene''' is the short stature homeobox gene, that when deficient frequently results in short stature.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Sister chromatids'''&lt;br /&gt;
&lt;br /&gt;
'''Ultrasonography''' is a medical technique that employs ultrasound frequencies to visualise a patient's internal bodily structure.&amp;lt;ref&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== References ==&lt;br /&gt;
&lt;br /&gt;
&amp;lt;references/&amp;gt;&lt;br /&gt;
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{{2011Projects}}&lt;/div&gt;</summary>
		<author><name>Z3217043</name></author>
	</entry>
	<entry>
		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=73762</id>
		<title>2011 Group Project 1</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=73762"/>
		<updated>2011-09-30T10:58:28Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: /* Decreased Cognition: */&lt;/p&gt;
&lt;hr /&gt;
&lt;div&gt;{{2011ProjectsMH}}&lt;br /&gt;
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== Turner Syndrome ==&lt;br /&gt;
&lt;br /&gt;
--[[User:S8600021|Mark Hill]] 10:44, 8 September 2011 (EST) Some of the existing sub-sections have appropriate content, but there are also empty sub-sections, a total lack of referencing/citation and no glossary. &lt;br /&gt;
* The referencing issue needs urgent  progress.&lt;br /&gt;
* Existing figures/table are appropriate. Table appears to be directly used from an uncited source.&lt;br /&gt;
* There needs to be more images in this work.&lt;br /&gt;
* Where is the student drawn figure?&lt;br /&gt;
* Read http://embryology.med.unsw.edu.au/embryology/index.php?title=Help:Reference_Tutorial#Multiple%20Instances%20on%20Page&lt;br /&gt;
&lt;br /&gt;
== Introduction ==&lt;br /&gt;
&lt;br /&gt;
Turner syndrome, named after Henry Hubert Turner who first described the syndrome in his paper in 1938,&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;4557013&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; is one of the most commonly occuring chromosomal disorders. It is caused by complete or partial X monosomy in some or all cells and occurs in approximately 1 in 2000 live female births, however the morbidity rate of spontaneous abortions is 10% and only about 1% of fetuses survive to term. &lt;br /&gt;
&lt;br /&gt;
During normal fetal development, each ovary contain as many as 7 million oocytes. The oocytes gradually reduced to 400,000 during menarche and during menopause fewer than 10,000 remains. However, in Turner syndrome, the ovaries develop normally during embryogenesis but the absence of the second X chromosome leads to an accelerated loss of oocytes, which is complete by the time the infant, is aged 2. Genetically menopause occurs before menarche and the ovaries are reduced to atrophic fibrous strands, devoid of ova and follicles (streak ovaries). Development of somatic (nongonadal) tissues that reside on the missing/abnormal X chromosome are also severely affected. For example short stature is caused by a deletion of the Xp chromosome and the deletion of Xq causes gonadal dysfunction &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt; 6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
 &lt;br /&gt;
The most frequent clinical feature is short stature and gonadal dysgenesis. Other features may include coarctation of the aorta, renal anomalies, neck webbing, and lymphoedema. The affected organ systems and tissues may are effected to a lesser or greater extent amongst that are affected by turner syndrome. Each person who has turner syndrome all vary in their clinical phenotype. In recent years there has been increased interest in Turner Syndrome due to the introduction of growth hormone treatment. There has been marked improvement in the understanding of this condition as advances in molecular genetic techniques occur. However, there still further research to be completed. A multidisciplinary approach to treatment is important to improve the quality of life of girls with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
 &lt;br /&gt;
[[File:Karyotype.jpg|200px|thumb|left|The arrow indicates the presence of only one X chromosome in Karyotype]]&lt;br /&gt;
&lt;br /&gt;
== Epidemiology ==&lt;br /&gt;
&lt;br /&gt;
Turner Syndrome affects about 1 in 2000 live-born females. There are three types of karyotypic abnormalities but the most frequently seen is where the entire X chromosome is missing resulting in 45 X karyotype. The remaining third have structural abnormalities of the X chromosomes, and two thirds are mosaics. Whereby, the maternal X is retained in two-thirds of women and the paternal X in the remainder.&lt;br /&gt;
The phenotype of Turner Syndrome is varies but it involves anomalies of the sex chromosome. It could be caused by the limited amount of genetic material in these abnormal chromosomes. Turner Syndrome can be transmitted from mother to daughter, and thus can it could be described as a heredity linked syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The loss of one of the sex chromosomes of turner syndrome occurs after the zygote has formed or just after the fusion of the gametes. In 70-80% of cases the retained X is from the mother. In such circumstances has lead to the different phenotypic expression of the genes present on the X chromosome depending upon if it came from the mother or father. &lt;br /&gt;
The morphological differences from those retaining the maternal compared to retaining the paternal X is have shown to have a greater incidence of cardiovascular anomalies and neck webbing. &lt;br /&gt;
The missing sex chromosome could be either an X or a Y. This has clinical implications because if the Y material is present there is a risk of up to 30% of gonadoblastoma developing in the dysgenetic gonads. This is because the 'gonadoblastoma locus' is on the Y chromosome which is believed to be situated on the long arm of the Y just below the centromere.&lt;br /&gt;
Another factor affecting the phenotype in Turner syndrome is the inactivation of the abnormal X chromosomes. In a normal fetus there should be only one X chromosome that is active in each cell &amp;lt;ref&amp;gt;Wade, Nicholas (2009-09-15). '''&amp;quot;New Clues to Sex Anomalies in How Y Chromosomes Are Copied&amp;quot;'''. The New York Times. Retrieved 2010-05-26. http://www.nytimes.com/2009/09/15/science/15chrom.html?pagewanted=1&amp;amp;_r=1&amp;amp;hpw&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
[[File:Stats abnormal.jpg]]  &lt;br /&gt;
&lt;br /&gt;
Abnormalities associated with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Etiology ==&lt;br /&gt;
[[File:nondisjunction.jpg|850px|thumb|right|alt text|This figure shows the progeny created from normal disjunction (A), and non-disjunction during both Meiosis I (B) and Meiosis II (C).]]&lt;br /&gt;
&lt;br /&gt;
Causation of Turner Syndrome (TS) can be traced back to the stages of sex-cell development.  When sex cells divide through a process called [[#Glossary | '''meiosis''']] to create [[#Glossary | '''gametes''']], either a [[#Glossary | '''haploid''']] egg (for females) or sperm (for males) two divisions occur, Meiosis I and Meiosis II.  Meiosis is the main process which helps create the vast genetic diversity within all populations by allowing [[#Glossary | '''recombination''']] and [[#Glossary | '''random assortment''']].  During Meiosis I [[#Glossary | '''homologous chromosomes''']] are separated; following Meiosis I, [[#Glossary | '''sister chromatids''']] separate during Meiosis II.  If during either stage of Meiosis I or II the homologous chromosomes or sister chromatids, respectively, do not fully separate, a phenomenon can occur called [[#Glossary | '''nondisjunction''']].  Nondisjunction causes an uneven distribution of genetic material to each daughter nuclei.  When an uneven distribution is such that one of the gametes does not have any of a chromosome, it can combine with another normal gamete to create a fertilized egg with only one chromosome as opposed to the normal two that are found in human cells; this is called a [[#Glossary | '''monosomy''']].  When this occurs in the sex chromosomes leaving only a single X chromosome (X0 genotype) Turner Syndrome is created, leaving only 45 chromosomes in the zygote rather than the normal 46.  &lt;br /&gt;
&lt;br /&gt;
[[File:22+23=45.jpg|350px|thumb|left|22 chromosomal egg + 23 chromosomal sperm = 45 chromsomes in zygote instead of normal 46.]]&lt;br /&gt;
Turner Syndrome can also be created by partial monosomy or disjunctions, meaning that although a whole X chromosome is not missing, portions of it are not present or are non-functional, rendering the chromosome useless.  Any disjunction seems to be completely sporadic and have yet to be attributed to any genetic link. The only thing known for sure is that during conception a portion of or the whole second sex chromosome is not conveyed to the zygote.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;7763055&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; Because at least one X chromosome is necessary for vital functions, this condition can only be found in females.&lt;br /&gt;
&lt;br /&gt;
== Clinical Manifestations ==&lt;br /&gt;
&lt;br /&gt;
The following are a list of characteristics and diseases which tend to accompany, be caused by, or be related to Turner Syndrome.  &lt;br /&gt;
&lt;br /&gt;
===Physical Attributes:===&lt;br /&gt;
*congenital malformations (heart, urinary system, face, neck, ears) &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*gonadal dysgenesis (causes estrogen deficiencies, which can cause infertility) &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*increased risk of fractures &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16624607&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low cortical bone mineral density (BMD) &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;/&amp;gt;&lt;br /&gt;
*middle ear infections &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*premature ovarian failure &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*short/reduced stature &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*webbed neck &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;17562588&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Decreased Cognition:===&lt;br /&gt;
*emotion processing difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;20014362&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*increased impulsivity &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;19750135&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low IQ score &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
*nonverbal learning disability (slow math calculations)&amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*social cognition difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*visuoperception/visuoconstruction deficit (identifying and locating is difficult due to poor visual working memory) &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Increased Risk of:===&lt;br /&gt;
*cirrhosis of the liver &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*colon and rectal cancers &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*hypothyroidism &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*inflammatory bowel disease &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*morbidity and mortality &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*neurovascular disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*osteoporosis &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*ovarian failure &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*renal and gastrointestinal disease &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Prone to Develop Autoimmune Conditions:=== &lt;br /&gt;
*alopecia areata &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coeliac disease (CD) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12466343&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*psoriasis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*thyroiditis &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*type 1 diabetes &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Cardiac Abnormalities:===&lt;br /&gt;
(most serious/life threatening medical problems created by Turner Syndrome)&lt;br /&gt;
*absence of portal vein &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16612647&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*aortic dilatation and dissection  &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*arrhythmias &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;17015510&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*arteriosclerosis &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*biscuspid aortic valves &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*coarctation of the aorta &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*hypertension &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*ischemic heart disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*mitral valve prolapsed &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== Diagnostic Procedures ==&lt;br /&gt;
&lt;br /&gt;
===Diagnostic Definition===&lt;br /&gt;
&lt;br /&gt;
[[File:Turner Syndrome X Chromosome Variations.jpg|thumb|right|Variations of the Second X Chromosome in Turner Syndrome]]&lt;br /&gt;
Turner syndrome is diagnosed through both an evaluation of physical features and by analysis of the second sex chromosome. The two criteria must be met for classification of Turner syndrome, an abnormality in the second sex chromosome must be found and the abnormality must be found to be expressed somehow in the individual's traits. Hence if physical characteristics are not present even when the cytogenetic criterion is met the patient is not diagnosed as having Turner syndrome.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; In Turner syndrome the second sex chromosome is either:&lt;br /&gt;
&lt;br /&gt;
*Completely absent (45,X)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Partially absent&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Forms an isochromosome (isoXq), possessing a long arm duplication (q) and being devoid of a short arm (p)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*In a ring formation (rX)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Is devoid of the homeobox gene, [[#Glossary | '''SHOX''']] (short stature homeobox), the deletion being prior to the junction between Xp22.2 and Xp22.3&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
Any of these variations of the second sex chromosome may occur with or without cell line [[#Glossary | '''mosaicism''']].&lt;br /&gt;
Turner syndrome may be diagnosed prenatally or postnatally, using this genetic diagnostic definition coupled with an appropriate phenotypic evaluation of the individual, as outlined below.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Prenatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
The prenatal diagnostic tool for Turner syndrome is karyotype screening and testing for phenotype abnormalities. If Turner syndrome is diagnosed prenatally, karyotype screening and an evaluation of the individual's traits should be conducted again postnatally for confirmation of this diagnosis. Turner syndrome is frequently diagnosed after karyotype screening during [[#Glossary | '''chorionic villous sampling''']] or [[#Glossary | '''amniocentesis''']].&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
The table below outlines various prenatal tests conducted and the indications that may be present in babies with Turner syndrome. Although these techniques and the indications they reveal may highlight Turner syndrome signs, they should not be used as sole diagnostic tools.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Technique'''&lt;br /&gt;
| '''Turner syndrome indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Ultrasound'''&lt;br /&gt;
|&lt;br /&gt;
*Increased nuchal translucency &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Cystic hygroma''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Coarctation''']] of the aorta &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Left-sided cardiac defects &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Brachycephaly''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Renal anomalies &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Polyhydramnios''']] &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Oligohydramnios''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Growth retardation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;10599686&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Turner Syndrome Test Showing Nuchal Translucency.gif|none|thumb|400px|Figure 2: Ultrasound Test Showing Nuchal Translucency.]]&lt;br /&gt;
[[File:Turner Syndrome Test Showing Cystic Hygroma.gif|none|thumb|400px|Figure 3: Ultrasound Test Showing Cystic Hygroma.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Maternal serum screening'''&lt;br /&gt;
|&lt;br /&gt;
*Abnormal [[#Glossary | '''α-fetoprotein''']] levels &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary | '''inhibin A''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary | '''hCG''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal unconjugated [[#Glossary | '''estriol''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
|[[File: TurnerSyndromeMaternalSerumSampling.jpg|none|thumb|400px|Figure 4: Maternal Serum Sampling.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
===Postnatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
In postnatal diagnosis, [[#Glossary | '''karyotype''']] investigation is undertaken for the individual. When a female presents with the following clinical findings, explained in table below, it is recommended that chromosomal analysis is undertaken, so that Turner syndrome may be eliminated&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;:&lt;br /&gt;
{|sstyle= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Age'''&lt;br /&gt;
| '''Phenotypic manifestations/indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Baby/infant'''&lt;br /&gt;
|&lt;br /&gt;
*Oedema of the hands or feet&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Nuchal folds &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Cardiac abnormalities for example aortic dilation, bicuspid aortic valve and aortic coarctation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Low hairline &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Low set ears &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Small mandible &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Gonadal dysgenesis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Child'''&lt;br /&gt;
| &lt;br /&gt;
*Short stature with low growth velocity &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Cubitus valgus''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Nail [[#Glossary | '''hypoplasia''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Hyperconvex uplifted nails &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Multiple pigmented benign birthmarks/moles &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Characteristic faecies &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Short fourth metacarpal &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*High arched palate &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Extensive and chronic inflammation/infection of the ear &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Hearing loss &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 4 year old child.jpg|left|thumb|150px|Figure 5: Four-year-old girl with Turner's syndrome. Note somewhat broad chest, prominent ears and ptosis, but otherwise normal proportion. There is no pronounced neck webbing or edema.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Adolescent/Adult'''&lt;br /&gt;
|&lt;br /&gt;
*Absence of breast development by 13 yr of age &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Pubertal arrest &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Primary or secondary amenorrhoea&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Unexplained short stature &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Renal abnormalities &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Immune disorders &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 35 year old woman.jpg|none|thumb|150px|Figure 6: A Thirtyfive-year-old woman with Turner's syndrome. Note increased carrying angle of arms, broad flat chest and sexual infantilism, but the lack of pronounced neck webbing or peripheral edema.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Since an absence of the physical signs of puberty and/or growth failure are often seen as normal variations in the population, these possible indications/symptoms of Turner syndrome may not be further investigated by many clinicians.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20361125&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; When karyotyping in order to exclude natural cell variation, a sufficient number of cells should be assessed. Whilst a sample of blood will often reveal Turner syndrome, an evaluation of a second tissue sample like the skin is recommend.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
[[#Glossary | '''DNA hybridisation''']] or [[#Glossary | '''fluorescent in situ hybridisation''']] should be conducted using a Y centromeric or short arm probe to detect for any additional Y or X chromosomal material.&lt;br /&gt;
If there is any of the Y chromosome present, this may initiate [[#Glossary | '''gonadoblastoma''']] development, another primary indicator of Turner syndrome. Hence the individual should have both a vaginal [[#Glossary | '''ultrasonograph''']] and colour [[#Glossary | '''Doppler sonograph''']] of their gonads to detect whether any Y chromosome fragments are present. These tests should be repeated regularly to monitor the patient for any malignancy, if a gonadectomy is not undertaken.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== Treatment ==&lt;br /&gt;
&lt;br /&gt;
=== Cardiac Treatment ===&lt;br /&gt;
&lt;br /&gt;
When patients are confirmed with Turner Syndrome, it is necessary to have a full cardiac evaulation including a physical exam and a echocardiogram. If cardiac abnormalities are found, monitoring by a cardiologist is recommended including regular blood pressure checks&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  Coarctation of the aorta and hypoplastic left heart are quite often very serious issues are need to be dealt with surgically&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
If no abnormalities are found, blood pressure in Turner Syndrome patients is still routinely checked and a follow up cardiac evaulation is recommended for girls around the age of puberty (12-15)&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Speech ===&lt;br /&gt;
&lt;br /&gt;
Many Turner Syndrome patients have trouble with their speech. It is necessary for them to be refered to an Ear, Nose and Throat specialist and to a speech therapist to work on improve any speech problems&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Management of Puberty and Growth ===&lt;br /&gt;
The main treatment for growth and pubertal development is Hormone Replacement Therapy. Growth Hormone is adminstered to girls with abnormal growth, resulting in postive growth that is consistent with the expected height of the patient. It is adminstered as early as 2 years of age, but more often in the age group of 9-12 which is in line with the growth spurt that occurs during puberty&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Natural estrogen and progesterone are administered to girls when they reach the age of puberty in early adolescence. The age at which this treatment commences varies between individuals, as does the dosage. The adminsteration of estrogen will begin the process of puberty in girls affected by Turner Syndrome and it is important that this begins around the same time as her peers&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. The use of estrogen is often held off if the patient is also undergoing GH treatment so that maximum growth can be achieved, as estrogen will induce the fusion of the epiphyses and limit longitudinal bone growth&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Around 10% of nonmosaic and 20% of mosaic women with Turner’s will have spontaneous menses (periods) and may not need to undergo Hormone Replacement to initiate puberty. Around 2-5% of these women will have the potential to fall pregnant naturally&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
=== Appearance ===&lt;br /&gt;
&lt;br /&gt;
Extreme neck webbing maybe worrying or uncomfortable to women with Turner’s and in some cases plastic surgery is undertaken to fix this problem. Also if convex gorwth of toenails occurs, surgery is conducted so that the woman can wear normal shoes&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Ongoing Adult Treatment ===&lt;br /&gt;
&lt;br /&gt;
Closely monitoring the health of Turner Syndrome adults is vital in the reduction of morbidity and mortality. An annual physical evalution should be undertaken which includes, blood pressure, heart auscultation, thyroid function, breast exam, and pap smear&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  &lt;br /&gt;
&lt;br /&gt;
Particular attention needs to be taken in the area of weight and obesity in Turner Syndrome women due to their high risk of developing diabetes, osteoporosis and hypertension. Patients are to be encouraged to have a healthy lifestyle including healthy eating and exercise&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Research ==&lt;br /&gt;
&lt;br /&gt;
===Current research===&lt;br /&gt;
&lt;br /&gt;
Since there is no preventative or cure, currently mainly research is being conducted into the areas of symptoms, possible treatments and risks involved with Turner syndrome.&lt;br /&gt;
&lt;br /&gt;
'''Growth hormone therapy in Turner syndrome: its affect on height, weight and stature.'''&lt;br /&gt;
*'''Growth hormone effect on body composition in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21720878&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research findings from this paper conclude that people with Turner syndrome have lower height, higher BMI and higher proportional sitting height and leg length than that of the normal population, no matter whether they undergo hormone replacement therapy or not.&lt;br /&gt;
*'''Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21619701&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study has concluded that all adults with Turner syndrome had a similar quality of life regardless of whether they have a higher stature due to undergoing growth hormone replacement therapy or not. It was hypothesised that height differences did not affect quality of life as the individuals seemed to adapt to their own life challenges.&lt;br /&gt;
*'''Growth hormone treatment for Turner syndrome in Australia reveals that younger age and increased dose interact to improve response.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21375553&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research from this study found that growth hormone therapy works most optimally if given earlier in life and at a high dose in the first year of treatment.&lt;br /&gt;
*'''Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21398400&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: Another study which confers that the early introduction of growth hormone therapy is most efficacious. However the individual's glucose metabolism should be monitored as the hormones may affect glucose tolerance transiently.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Oestrogen hormone replacement therapy in Turner syndrome: the adequate dosage and its effect on uterine development, breast development, bone mineral density and sexual characteristics.'''&lt;br /&gt;
*'''Growth hormone plus childhood low-dose estrogen in Turner's syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21449786&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study indicates that undergoing both growth hormone and oestrogen therapy together may help increase the efficacy of each (increasing growth in height and pubertal development) more than when they act alone. &lt;br /&gt;
*'''Estrogen requirements in girls with Turner syndrome; how low is enough for initiating puberty and uterine development?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21793702&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study assessed the minimal dosage of estrogen that is required to bring about desired pubertal development in girls with Turner syndrome.&lt;br /&gt;
*'''Puberty induction in Turner syndrome: results of oestrogen treatment on development of secondary sexual characteristics, uterine dimensions and serum hormone levels.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19200215&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: It was found that uterus of women with Turner syndrome who had undergone oestrogen was underdeveloped, however the exact cause of this needs to be further researched.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Pregnancy and Turner syndrome: evaluation and treatment of risks involved with pregnancy for: the mothers of Turner syndrome babies, for individuals with Turner syndrome and for the babies of individuals with Turner syndrome.'''&lt;br /&gt;
*'''Familial occurrence of Turner syndrome: casual event or increased risk?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21648298&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research examined whether there is a higher probability of having a second child with Turner syndrome and concluded that there is evidence in the small cohort that they used of a greater probability. It is suggested that a larger study be conducted to look further into these findings.that &lt;br /&gt;
*'''Obstetric Outcomes in Women with Turner Karyotype.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21865365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: In this study it was found that women with Turner syndrome had shorter pregnancies than that of a control group, but no other marked difference was observed between the groups.&lt;br /&gt;
*'''Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21496813&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This paper examined a number of pregnant women with Turner syndrome, some who incidentally went through puberty even though they had no hormone replacement therapy and another group that had undertaken hormone replacement therapy. Though there were not many complications in either group, the groups were small in number and one mother did have cardiovascular difficulties later on in life. Hence a thorough examination of pregnant Turner syndrome women should be conducted prior to conception.&lt;br /&gt;
*'''Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20923275&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This article assessed the prognosis of pregnant women with Turner syndrome. They concluded that spontaneous pregnancy increases the risk of the baby having phenotypic and chromosomal abnormalities compared with women having assisted reproductive therapies.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Future research=== &lt;br /&gt;
&lt;br /&gt;
Future research needs to be conducted in the following areas: to follow up on the suggestions given in the conclusions of current research papers as outlined in the prior section and also into how the care system is functioning for Turner syndrome individuals as outlined below.&lt;br /&gt;
&lt;br /&gt;
*'''Medical Care of Girls with Turner Syndrome: Where are we Lacking?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21454226&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research found that a large proportion (&amp;gt;50%) of people with Turner syndrome are not given adequate information upon diagnosis or screenings for complications and symptoms. Therefore it is suggested in order to rectify this issue that more education should be given to physicians on the syndrome&lt;br /&gt;
*'''Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21752892&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; and '''Turner's syndrome requires multidisciplinary approach.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19514616&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: These article evaluate the need for a multidisciplinary approach to treatment of Turner syndrome. Since the symptoms can be wide ranging and severe, it is difficult but necessary for all of them to be examined in each individual. Hence a greater care plan for individuals should be implemented upon diagnosis.&lt;br /&gt;
&lt;br /&gt;
== Glossary ==&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Alpha-fetoprotein''' is a protein with an unknown function. It makes up, up to one third of the protein serum levels found in the second trimester of pregnancy and in neural tube defects, these alpha-fetoprotein levels are elevated. &amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Amniocentesis''' is a prenatal diagnostic tool. The procedure involves the sampling of amniotic fluid from the amniotic sac using a syringe, that is then tested for a number of abnormalities. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Brachycephaly''' is a condition where the coronal suture of the skull fuses prematurely. Since the skull is unable to expand any further in the anterior-posterior directions due to this closure, it grows to an abnormal size in in the lateral dimension.&amp;lt;ref&amp;gt;Flint, P 2010, ''Flint: Cummings Otolaryngology: Head &amp;amp; Neck Surgery, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-323-05283-2..00186-5--s0045&amp;amp;isbn=978-0-323-05283-2&amp;amp;uniqId=282726024-5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Coarctation''' of the aorta is an abnormality where the aorta is constricted at one or various sections. This can be caused by genetic and/or environmental factors.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Chorionic villous sampling''' is a prenatal diagnostic tool which can be used from 7 weeks after fertilisation. It is used to test for a number of chromosomal abnormalities including X-linked and metabolic disorders.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Cystic hygroma''' is a prenatal abnormality where fluid builds up in the posterior portion of the neck. The body may or may not relieve itself naturally of this accumulation of fluid after birth. &amp;lt;ref&amp;gt;Gabbe, S 2007, ''Gabbe: Obstetrics: Normal and Problem Pregnancies, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-443-06930-7..50011-6--cesec51&amp;amp;isbn=978-0-443-06930-7&amp;amp;uniqId=282726024-10&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''DNA-DNA hybridisation''' is a technique used to compare the similarities and differences between two sets of genes.&amp;lt;ref&amp;gt;Long, S 2009, ''Bradley: Neurology in Clinical Practice, 5th ed.Long: Principles and Practice of Pediatric Infectious Diseases Revised Reprint, 3rd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X&amp;amp;isbn=978-0-7020-3468-8&amp;amp;uniqId=282726024-19#4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Doppler sonography''' uses the doppler effect to help image and measure blood flow pattern in the patient.&amp;lt;ref&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Estriol''' is a hormone that is produced in greater amounts during pregnancy especially in the second and third trimester. One of its main functions is to assist with blood flow in the placenta and uterus.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Gametes''' are reproductive (sex) cells (ie: eggs and sperm) that can unite to form a new cell called a zygote. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6&amp;amp;isbn=978-0-443-06811-9&amp;amp;uniqId=283289096-4#4-u1.0-B978-0-443-06811-9..10001-6--b0020&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Gonadoblastoma''' is an abnormal proliferation of gonadal cells, that may or may not be malignant.&amp;lt;ref&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Haploid''' is the status of a cell having only a single set of unpaired chromosomes, or half the number of chromosomes contained in typical body cells. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10019-3--sec5&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208594256&amp;amp;uniqId=283289096-7#4-u1.0-B978-0-443-06811-9..10019-3--sec5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''hCG''' is the abbreviation for human chorionic gonadotropin. It is a hormone that functions in the early stage of pregnancy to maintain the blood supply to the corpus luteum.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Homologous chromosomes''' are pairs of chromosomes, one each obtained from maternal and paternal gametes.  46 total chromosome complements are within an organism, 22 pairs of which are homologous chromosomes (called autosomes); the other 2 chromosomes are the sex chromosomes. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6--sec7&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208599219&amp;amp;uniqId=283289096-10#4-u1.0-B978-0-443-06811-9..10001-6--sec9&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
'''Hypoplasia''' is when an organ or tissue is not completely developed.&amp;lt;ref&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Inhibin A''' is a peptide produced by the ovaries and acts to restrain the production of follicle-stimulating hormone.&amp;lt;ref&amp;gt;Melmed, S 2011, ''Melmed: Williams Textbook of Endocrinology, 12th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0324-5..00045-6&amp;amp;isbn=978-1-4377-0324-5&amp;amp;uniqId=282726024-25 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Karyotype''' is an individual's set of chromosomes, both their number and appearance.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Meiosis''' is the specific process of cell division within sex cells which halves the number of chromosomes in the cells through via two cell divisions; this is specific to germ cells only, creating haploid gametes (sex cells) from diploid cells. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
'''Monosomy''' is a condition wherein a specific chromosome is completely missing within one gamete that combines with a normal gamete to form a zygote; a chromosome has no homologue, or matching chromosome, to pair with. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6--sec15&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208595822&amp;amp;uniqId=283289096-8#4-u1.0-B978-0-443-06811-9..10001-6--sec41&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Mosaicism''' is when a particular type or all cells of an individual do not have the same genetic makeup. This is caused by a mutation during embryonic cell division.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Nondisjunction''' is the failure of chromosome pairs to separate entirely during either stage of Meiosis. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec27&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--spara33&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Oligohydramnios''' is a prenatal condition, where there is an insufficient amount of amniotic fluid.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Polyhydramnios''' is a prenatal condition, where there is an excessive amount of amniotic fluid.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Random assortment'''&lt;br /&gt;
&lt;br /&gt;
'''Recombination''' is the process which by genetic material is crossed over and switched between two segments of DNA which adds to the genetic diversity of the genome.&lt;br /&gt;
&lt;br /&gt;
'''SHOX gene''' is the short stature homeobox gene, that when deficient frequently results in short stature.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Sister chromatids'''&lt;br /&gt;
&lt;br /&gt;
'''Ultrasonography''' is a medical technique that employs ultrasound frequencies to visualise a patient's internal bodily structure.&amp;lt;ref&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== References ==&lt;br /&gt;
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{{2011Projects}}&lt;/div&gt;</summary>
		<author><name>Z3217043</name></author>
	</entry>
	<entry>
		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=73760</id>
		<title>2011 Group Project 1</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=73760"/>
		<updated>2011-09-30T10:51:48Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: &lt;/p&gt;
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&lt;div&gt;{{2011ProjectsMH}}&lt;br /&gt;
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== Turner Syndrome ==&lt;br /&gt;
&lt;br /&gt;
--[[User:S8600021|Mark Hill]] 10:44, 8 September 2011 (EST) Some of the existing sub-sections have appropriate content, but there are also empty sub-sections, a total lack of referencing/citation and no glossary. &lt;br /&gt;
* The referencing issue needs urgent  progress.&lt;br /&gt;
* Existing figures/table are appropriate. Table appears to be directly used from an uncited source.&lt;br /&gt;
* There needs to be more images in this work.&lt;br /&gt;
* Where is the student drawn figure?&lt;br /&gt;
* Read http://embryology.med.unsw.edu.au/embryology/index.php?title=Help:Reference_Tutorial#Multiple%20Instances%20on%20Page&lt;br /&gt;
&lt;br /&gt;
== Introduction ==&lt;br /&gt;
&lt;br /&gt;
Turner syndrome, named after Henry Hubert Turner who first described the syndrome in his paper in 1938,&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;4557013&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; is one of the most commonly occuring chromosomal disorders. It is caused by complete or partial X monosomy in some or all cells and occurs in approximately 1 in 2000 live female births, however the morbidity rate of spontaneous abortions is 10% and only about 1% of fetuses survive to term. &lt;br /&gt;
&lt;br /&gt;
During normal fetal development, each ovary contain as many as 7 million oocytes. The oocytes gradually reduced to 400,000 during menarche and during menopause fewer than 10,000 remains. However, in Turner syndrome, the ovaries develop normally during embryogenesis but the absence of the second X chromosome leads to an accelerated loss of oocytes, which is complete by the time the infant, is aged 2. Genetically menopause occurs before menarche and the ovaries are reduced to atrophic fibrous strands, devoid of ova and follicles (streak ovaries). Development of somatic (nongonadal) tissues that reside on the missing/abnormal X chromosome are also severely affected. For example short stature is caused by a deletion of the Xp chromosome and the deletion of Xq causes gonadal dysfunction &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt; 6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
 &lt;br /&gt;
The most frequent clinical feature is short stature and gonadal dysgenesis. Other features may include coarctation of the aorta, renal anomalies, neck webbing, and lymphoedema. The affected organ systems and tissues may are effected to a lesser or greater extent amongst that are affected by turner syndrome. Each person who has turner syndrome all vary in their clinical phenotype. In recent years there has been increased interest in Turner Syndrome due to the introduction of growth hormone treatment. There has been marked improvement in the understanding of this condition as advances in molecular genetic techniques occur. However, there still further research to be completed. A multidisciplinary approach to treatment is important to improve the quality of life of girls with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
 &lt;br /&gt;
[[File:Karyotype.jpg|200px|thumb|left|The arrow indicates the presence of only one X chromosome in Karyotype]]&lt;br /&gt;
&lt;br /&gt;
== Epidemiology ==&lt;br /&gt;
&lt;br /&gt;
Turner Syndrome affects about 1 in 2000 live-born females. There are three types of karyotypic abnormalities but the most frequently seen is where the entire X chromosome is missing resulting in 45 X karyotype. The remaining third have structural abnormalities of the X chromosomes, and two thirds are mosaics. Whereby, the maternal X is retained in two-thirds of women and the paternal X in the remainder.&lt;br /&gt;
The phenotype of Turner Syndrome is varies but it involves anomalies of the sex chromosome. It could be caused by the limited amount of genetic material in these abnormal chromosomes. Turner Syndrome can be transmitted from mother to daughter, and thus can it could be described as a heredity linked syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The loss of one of the sex chromosomes of turner syndrome occurs after the zygote has formed or just after the fusion of the gametes. In 70-80% of cases the retained X is from the mother. In such circumstances has lead to the different phenotypic expression of the genes present on the X chromosome depending upon if it came from the mother or father. &lt;br /&gt;
The morphological differences from those retaining the maternal compared to retaining the paternal X is have shown to have a greater incidence of cardiovascular anomalies and neck webbing. &lt;br /&gt;
The missing sex chromosome could be either an X or a Y. This has clinical implications because if the Y material is present there is a risk of up to 30% of gonadoblastoma developing in the dysgenetic gonads. This is because the 'gonadoblastoma locus' is on the Y chromosome which is believed to be situated on the long arm of the Y just below the centromere.&lt;br /&gt;
Another factor affecting the phenotype in Turner syndrome is the inactivation of the abnormal X chromosomes. In a normal fetus there should be only one X chromosome that is active in each cell &amp;lt;ref&amp;gt;Wade, Nicholas (2009-09-15). '''&amp;quot;New Clues to Sex Anomalies in How Y Chromosomes Are Copied&amp;quot;'''. The New York Times. Retrieved 2010-05-26. http://www.nytimes.com/2009/09/15/science/15chrom.html?pagewanted=1&amp;amp;_r=1&amp;amp;hpw&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
[[File:Stats abnormal.jpg]]  &lt;br /&gt;
&lt;br /&gt;
Abnormalities associated with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Etiology ==&lt;br /&gt;
[[File:nondisjunction.jpg|850px|thumb|right|alt text|This figure shows the progeny created from normal disjunction (A), and non-disjunction during both Meiosis I (B) and Meiosis II (C).]]&lt;br /&gt;
&lt;br /&gt;
Causation of Turner Syndrome (TS) can be traced back to the stages of sex-cell development.  When sex cells divide through a process called [[#Glossary | '''meiosis''']] to create [[#Glossary | '''gametes''']], either a [[#Glossary | '''haploid''']] egg (for females) or sperm (for males) two divisions occur, Meiosis I and Meiosis II.  Meiosis is the main process which helps create the vast genetic diversity within all populations by allowing [[#Glossary | '''recombination''']] and [[#Glossary | '''random assortment''']].  During Meiosis I [[#Glossary | '''homologous chromosomes''']] are separated; following Meiosis I, [[#Glossary | '''sister chromatids''']] separate during Meiosis II.  If during either stage of Meiosis I or II the homologous chromosomes or sister chromatids, respectively, do not fully separate, a phenomenon can occur called [[#Glossary | '''nondisjunction''']].  Nondisjunction causes an uneven distribution of genetic material to each daughter nuclei.  When an uneven distribution is such that one of the gametes does not have any of a chromosome, it can combine with another normal gamete to create a fertilized egg with only one chromosome as opposed to the normal two that are found in human cells; this is called a [[#Glossary | '''monosomy''']].  When this occurs in the sex chromosomes leaving only a single X chromosome (X0 genotype) Turner Syndrome is created, leaving only 45 chromosomes in the zygote rather than the normal 46.  &lt;br /&gt;
&lt;br /&gt;
[[File:22+23=45.jpg|350px|thumb|left|22 chromosomal egg + 23 chromosomal sperm = 45 chromsomes in zygote instead of normal 46.]]&lt;br /&gt;
Turner Syndrome can also be created by partial monosomy or disjunctions, meaning that although a whole X chromosome is not missing, portions of it are not present or are non-functional, rendering the chromosome useless.  Any disjunction seems to be completely sporadic and have yet to be attributed to any genetic link. The only thing known for sure is that during conception a portion of or the whole second sex chromosome is not conveyed to the zygote.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;7763055&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; Because at least one X chromosome is necessary for vital functions, this condition can only be found in females.&lt;br /&gt;
&lt;br /&gt;
== Clinical Manifestations ==&lt;br /&gt;
&lt;br /&gt;
The following are a list of characteristics and diseases which tend to accompany, be caused by, or be related to Turner Syndrome.  &lt;br /&gt;
&lt;br /&gt;
===Physical Attributes:===&lt;br /&gt;
*congenital malformations (heart, urinary system, face, neck, ears) &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*gonadal dysgenesis (causes estrogen deficiencies, which can cause infertility) &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*increased risk of fractures &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16624607&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low cortical bone mineral density (BMD) &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;/&amp;gt;&lt;br /&gt;
*middle ear infections &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*premature ovarian failure &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*short/reduced stature &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*webbed neck &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;17562588&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Decreased Cognition:===&lt;br /&gt;
*emotion processing difficulties &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC3114458&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*increased impulsivity &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;19750135&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low IQ score &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
*nonverbal learning disability (slow math calculations) &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;20014362&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*social cognition difficulties &amp;lt;ref name=&amp;quot;PMID20014362&amp;quot;/&amp;gt;&lt;br /&gt;
*visuoperception/visuoconstruction deficit (identifying and locating is difficult due to poor visual working memory) &amp;lt;ref name=&amp;quot;PMID19750135&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Increased Risk of:===&lt;br /&gt;
*cirrhosis of the liver &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*colon and rectal cancers &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*hypothyroidism &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*inflammatory bowel disease &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*morbidity and mortality &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*neurovascular disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*osteoporosis &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*ovarian failure &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*renal and gastrointestinal disease &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Prone to Develop Autoimmune Conditions:=== &lt;br /&gt;
*alopecia areata &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coeliac disease (CD) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12466343&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*psoriasis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*thyroiditis &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*type 1 diabetes &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Cardiac Abnormalities:===&lt;br /&gt;
(most serious/life threatening medical problems created by Turner Syndrome)&lt;br /&gt;
*absence of portal vein &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16612647&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*aortic dilatation and dissection  &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*arrhythmias &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;17015510&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*arteriosclerosis &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*biscuspid aortic valves &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*coarctation of the aorta &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*hypertension &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*ischemic heart disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*mitral valve prolapsed &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== Diagnostic Procedures ==&lt;br /&gt;
&lt;br /&gt;
===Diagnostic Definition===&lt;br /&gt;
&lt;br /&gt;
[[File:Turner Syndrome X Chromosome Variations.jpg|thumb|right|Variations of the Second X Chromosome in Turner Syndrome]]&lt;br /&gt;
Turner syndrome is diagnosed through both an evaluation of physical features and by analysis of the second sex chromosome. The two criteria must be met for classification of Turner syndrome, an abnormality in the second sex chromosome must be found and the abnormality must be found to be expressed somehow in the individual's traits. Hence if physical characteristics are not present even when the cytogenetic criterion is met the patient is not diagnosed as having Turner syndrome.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; In Turner syndrome the second sex chromosome is either:&lt;br /&gt;
&lt;br /&gt;
*Completely absent (45,X)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Partially absent&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Forms an isochromosome (isoXq), possessing a long arm duplication (q) and being devoid of a short arm (p)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*In a ring formation (rX)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Is devoid of the homeobox gene, [[#Glossary | '''SHOX''']] (short stature homeobox), the deletion being prior to the junction between Xp22.2 and Xp22.3&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
Any of these variations of the second sex chromosome may occur with or without cell line [[#Glossary | '''mosaicism''']].&lt;br /&gt;
Turner syndrome may be diagnosed prenatally or postnatally, using this genetic diagnostic definition coupled with an appropriate phenotypic evaluation of the individual, as outlined below.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Prenatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
The prenatal diagnostic tool for Turner syndrome is karyotype screening and testing for phenotype abnormalities. If Turner syndrome is diagnosed prenatally, karyotype screening and an evaluation of the individual's traits should be conducted again postnatally for confirmation of this diagnosis. Turner syndrome is frequently diagnosed after karyotype screening during [[#Glossary | '''chorionic villous sampling''']] or [[#Glossary | '''amniocentesis''']].&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
The table below outlines various prenatal tests conducted and the indications that may be present in babies with Turner syndrome. Although these techniques and the indications they reveal may highlight Turner syndrome signs, they should not be used as sole diagnostic tools.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Technique'''&lt;br /&gt;
| '''Turner syndrome indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Ultrasound'''&lt;br /&gt;
|&lt;br /&gt;
*Increased nuchal translucency &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Cystic hygroma''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Coarctation''']] of the aorta &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Left-sided cardiac defects &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Brachycephaly''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Renal anomalies &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Polyhydramnios''']] &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Oligohydramnios''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Growth retardation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;10599686&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Turner Syndrome Test Showing Nuchal Translucency.gif|none|thumb|400px|Figure 2: Ultrasound Test Showing Nuchal Translucency.]]&lt;br /&gt;
[[File:Turner Syndrome Test Showing Cystic Hygroma.gif|none|thumb|400px|Figure 3: Ultrasound Test Showing Cystic Hygroma.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Maternal serum screening'''&lt;br /&gt;
|&lt;br /&gt;
*Abnormal [[#Glossary | '''α-fetoprotein''']] levels &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary | '''inhibin A''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary | '''hCG''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal unconjugated [[#Glossary | '''estriol''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
|[[File: TurnerSyndromeMaternalSerumSampling.jpg|none|thumb|400px|Figure 4: Maternal Serum Sampling.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
===Postnatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
In postnatal diagnosis, [[#Glossary | '''karyotype''']] investigation is undertaken for the individual. When a female presents with the following clinical findings, explained in table below, it is recommended that chromosomal analysis is undertaken, so that Turner syndrome may be eliminated&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;:&lt;br /&gt;
{|sstyle= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Age'''&lt;br /&gt;
| '''Phenotypic manifestations/indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Baby/infant'''&lt;br /&gt;
|&lt;br /&gt;
*Oedema of the hands or feet&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Nuchal folds &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Cardiac abnormalities for example aortic dilation, bicuspid aortic valve and aortic coarctation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Low hairline &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Low set ears &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Small mandible &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Gonadal dysgenesis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Child'''&lt;br /&gt;
| &lt;br /&gt;
*Short stature with low growth velocity &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Cubitus valgus''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Nail [[#Glossary | '''hypoplasia''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Hyperconvex uplifted nails &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Multiple pigmented benign birthmarks/moles &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Characteristic faecies &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Short fourth metacarpal &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*High arched palate &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Extensive and chronic inflammation/infection of the ear &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Hearing loss &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 4 year old child.jpg|left|thumb|150px|Figure 5: Four-year-old girl with Turner's syndrome. Note somewhat broad chest, prominent ears and ptosis, but otherwise normal proportion. There is no pronounced neck webbing or edema.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Adolescent/Adult'''&lt;br /&gt;
|&lt;br /&gt;
*Absence of breast development by 13 yr of age &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Pubertal arrest &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Primary or secondary amenorrhoea&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Unexplained short stature &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Renal abnormalities &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Immune disorders &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 35 year old woman.jpg|none|thumb|150px|Figure 6: A Thirtyfive-year-old woman with Turner's syndrome. Note increased carrying angle of arms, broad flat chest and sexual infantilism, but the lack of pronounced neck webbing or peripheral edema.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Since an absence of the physical signs of puberty and/or growth failure are often seen as normal variations in the population, these possible indications/symptoms of Turner syndrome may not be further investigated by many clinicians.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20361125&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; When karyotyping in order to exclude natural cell variation, a sufficient number of cells should be assessed. Whilst a sample of blood will often reveal Turner syndrome, an evaluation of a second tissue sample like the skin is recommend.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
[[#Glossary | '''DNA hybridisation''']] or [[#Glossary | '''fluorescent in situ hybridisation''']] should be conducted using a Y centromeric or short arm probe to detect for any additional Y or X chromosomal material.&lt;br /&gt;
If there is any of the Y chromosome present, this may initiate [[#Glossary | '''gonadoblastoma''']] development, another primary indicator of Turner syndrome. Hence the individual should have both a vaginal [[#Glossary | '''ultrasonograph''']] and colour [[#Glossary | '''Doppler sonograph''']] of their gonads to detect whether any Y chromosome fragments are present. These tests should be repeated regularly to monitor the patient for any malignancy, if a gonadectomy is not undertaken.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== Treatment ==&lt;br /&gt;
&lt;br /&gt;
=== Cardiac Treatment ===&lt;br /&gt;
&lt;br /&gt;
When patients are confirmed with Turner Syndrome, it is necessary to have a full cardiac evaulation including a physical exam and a echocardiogram. If cardiac abnormalities are found, monitoring by a cardiologist is recommended including regular blood pressure checks&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  Coarctation of the aorta and hypoplastic left heart are quite often very serious issues are need to be dealt with surgically&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
If no abnormalities are found, blood pressure in Turner Syndrome patients is still routinely checked and a follow up cardiac evaulation is recommended for girls around the age of puberty (12-15)&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Speech ===&lt;br /&gt;
&lt;br /&gt;
Many Turner Syndrome patients have trouble with their speech. It is necessary for them to be refered to an Ear, Nose and Throat specialist and to a speech therapist to work on improve any speech problems&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Management of Puberty and Growth ===&lt;br /&gt;
The main treatment for growth and pubertal development is Hormone Replacement Therapy. Growth Hormone is adminstered to girls with abnormal growth, resulting in postive growth that is consistent with the expected height of the patient. It is adminstered as early as 2 years of age, but more often in the age group of 9-12 which is in line with the growth spurt that occurs during puberty&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Natural estrogen and progesterone are administered to girls when they reach the age of puberty in early adolescence. The age at which this treatment commences varies between individuals, as does the dosage. The adminsteration of estrogen will begin the process of puberty in girls affected by Turner Syndrome and it is important that this begins around the same time as her peers&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. The use of estrogen is often held off if the patient is also undergoing GH treatment so that maximum growth can be achieved, as estrogen will induce the fusion of the epiphyses and limit longitudinal bone growth&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Around 10% of nonmosaic and 20% of mosaic women with Turner’s will have spontaneous menses (periods) and may not need to undergo Hormone Replacement to initiate puberty. Around 2-5% of these women will have the potential to fall pregnant naturally&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
=== Appearance ===&lt;br /&gt;
&lt;br /&gt;
Extreme neck webbing maybe worrying or uncomfortable to women with Turner’s and in some cases plastic surgery is undertaken to fix this problem. Also if convex gorwth of toenails occurs, surgery is conducted so that the woman can wear normal shoes&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Ongoing Adult Treatment ===&lt;br /&gt;
&lt;br /&gt;
Closely monitoring the health of Turner Syndrome adults is vital in the reduction of morbidity and mortality. An annual physical evalution should be undertaken which includes, blood pressure, heart auscultation, thyroid function, breast exam, and pap smear&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  &lt;br /&gt;
&lt;br /&gt;
Particular attention needs to be taken in the area of weight and obesity in Turner Syndrome women due to their high risk of developing diabetes, osteoporosis and hypertension. Patients are to be encouraged to have a healthy lifestyle including healthy eating and exercise&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Research ==&lt;br /&gt;
&lt;br /&gt;
===Current research===&lt;br /&gt;
&lt;br /&gt;
Since there is no preventative or cure, currently mainly research is being conducted into the areas of symptoms, possible treatments and risks involved with Turner syndrome.&lt;br /&gt;
&lt;br /&gt;
'''Growth hormone therapy in Turner syndrome: its affect on height, weight and stature.'''&lt;br /&gt;
*'''Growth hormone effect on body composition in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21720878&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research findings from this paper conclude that people with Turner syndrome have lower height, higher BMI and higher proportional sitting height and leg length than that of the normal population, no matter whether they undergo hormone replacement therapy or not.&lt;br /&gt;
*'''Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21619701&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study has concluded that all adults with Turner syndrome had a similar quality of life regardless of whether they have a higher stature due to undergoing growth hormone replacement therapy or not. It was hypothesised that height differences did not affect quality of life as the individuals seemed to adapt to their own life challenges.&lt;br /&gt;
*'''Growth hormone treatment for Turner syndrome in Australia reveals that younger age and increased dose interact to improve response.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21375553&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research from this study found that growth hormone therapy works most optimally if given earlier in life and at a high dose in the first year of treatment.&lt;br /&gt;
*'''Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21398400&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: Another study which confers that the early introduction of growth hormone therapy is most efficacious. However the individual's glucose metabolism should be monitored as the hormones may affect glucose tolerance transiently.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Oestrogen hormone replacement therapy in Turner syndrome: the adequate dosage and its effect on uterine development, breast development, bone mineral density and sexual characteristics.'''&lt;br /&gt;
*'''Growth hormone plus childhood low-dose estrogen in Turner's syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21449786&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study indicates that undergoing both growth hormone and oestrogen therapy together may help increase the efficacy of each (increasing growth in height and pubertal development) more than when they act alone. &lt;br /&gt;
*'''Estrogen requirements in girls with Turner syndrome; how low is enough for initiating puberty and uterine development?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21793702&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study assessed the minimal dosage of estrogen that is required to bring about desired pubertal development in girls with Turner syndrome.&lt;br /&gt;
*'''Puberty induction in Turner syndrome: results of oestrogen treatment on development of secondary sexual characteristics, uterine dimensions and serum hormone levels.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19200215&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: It was found that uterus of women with Turner syndrome who had undergone oestrogen was underdeveloped, however the exact cause of this needs to be further researched.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Pregnancy and Turner syndrome: evaluation and treatment of risks involved with pregnancy for: the mothers of Turner syndrome babies, for individuals with Turner syndrome and for the babies of individuals with Turner syndrome.'''&lt;br /&gt;
*'''Familial occurrence of Turner syndrome: casual event or increased risk?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21648298&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research examined whether there is a higher probability of having a second child with Turner syndrome and concluded that there is evidence in the small cohort that they used of a greater probability. It is suggested that a larger study be conducted to look further into these findings.that &lt;br /&gt;
*'''Obstetric Outcomes in Women with Turner Karyotype.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21865365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: In this study it was found that women with Turner syndrome had shorter pregnancies than that of a control group, but no other marked difference was observed between the groups.&lt;br /&gt;
*'''Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21496813&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This paper examined a number of pregnant women with Turner syndrome, some who incidentally went through puberty even though they had no hormone replacement therapy and another group that had undertaken hormone replacement therapy. Though there were not many complications in either group, the groups were small in number and one mother did have cardiovascular difficulties later on in life. Hence a thorough examination of pregnant Turner syndrome women should be conducted prior to conception.&lt;br /&gt;
*'''Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20923275&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This article assessed the prognosis of pregnant women with Turner syndrome. They concluded that spontaneous pregnancy increases the risk of the baby having phenotypic and chromosomal abnormalities compared with women having assisted reproductive therapies.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Future research=== &lt;br /&gt;
&lt;br /&gt;
Future research needs to be conducted in the following areas: to follow up on the suggestions given in the conclusions of current research papers as outlined in the prior section and also into how the care system is functioning for Turner syndrome individuals as outlined below.&lt;br /&gt;
&lt;br /&gt;
*'''Medical Care of Girls with Turner Syndrome: Where are we Lacking?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21454226&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research found that a large proportion (&amp;gt;50%) of people with Turner syndrome are not given adequate information upon diagnosis or screenings for complications and symptoms. Therefore it is suggested in order to rectify this issue that more education should be given to physicians on the syndrome&lt;br /&gt;
*'''Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21752892&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; and '''Turner's syndrome requires multidisciplinary approach.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19514616&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: These article evaluate the need for a multidisciplinary approach to treatment of Turner syndrome. Since the symptoms can be wide ranging and severe, it is difficult but necessary for all of them to be examined in each individual. Hence a greater care plan for individuals should be implemented upon diagnosis.&lt;br /&gt;
&lt;br /&gt;
== Glossary ==&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Alpha-fetoprotein''' is a protein with an unknown function. It makes up, up to one third of the protein serum levels found in the second trimester of pregnancy and in neural tube defects, these alpha-fetoprotein levels are elevated. &amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Amniocentesis''' is a prenatal diagnostic tool. The procedure involves the sampling of amniotic fluid from the amniotic sac using a syringe, that is then tested for a number of abnormalities. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Brachycephaly''' is a condition where the coronal suture of the skull fuses prematurely. Since the skull is unable to expand any further in the anterior-posterior directions due to this closure, it grows to an abnormal size in in the lateral dimension.&amp;lt;ref&amp;gt;Flint, P 2010, ''Flint: Cummings Otolaryngology: Head &amp;amp; Neck Surgery, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-323-05283-2..00186-5--s0045&amp;amp;isbn=978-0-323-05283-2&amp;amp;uniqId=282726024-5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Coarctation''' of the aorta is an abnormality where the aorta is constricted at one or various sections. This can be caused by genetic and/or environmental factors.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Chorionic villous sampling''' is a prenatal diagnostic tool which can be used from 7 weeks after fertilisation. It is used to test for a number of chromosomal abnormalities including X-linked and metabolic disorders.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Cystic hygroma''' is a prenatal abnormality where fluid builds up in the posterior portion of the neck. The body may or may not relieve itself naturally of this accumulation of fluid after birth. &amp;lt;ref&amp;gt;Gabbe, S 2007, ''Gabbe: Obstetrics: Normal and Problem Pregnancies, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-443-06930-7..50011-6--cesec51&amp;amp;isbn=978-0-443-06930-7&amp;amp;uniqId=282726024-10&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''DNA-DNA hybridisation''' is a technique used to compare the similarities and differences between two sets of genes.&amp;lt;ref&amp;gt;Long, S 2009, ''Bradley: Neurology in Clinical Practice, 5th ed.Long: Principles and Practice of Pediatric Infectious Diseases Revised Reprint, 3rd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X&amp;amp;isbn=978-0-7020-3468-8&amp;amp;uniqId=282726024-19#4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Doppler sonography''' uses the doppler effect to help image and measure blood flow pattern in the patient.&amp;lt;ref&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Estriol''' is a hormone that is produced in greater amounts during pregnancy especially in the second and third trimester. One of its main functions is to assist with blood flow in the placenta and uterus.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Gametes''' are reproductive (sex) cells (ie: eggs and sperm) that can unite to form a new cell called a zygote. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6&amp;amp;isbn=978-0-443-06811-9&amp;amp;uniqId=283289096-4#4-u1.0-B978-0-443-06811-9..10001-6--b0020&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Gonadoblastoma''' is an abnormal proliferation of gonadal cells, that may or may not be malignant.&amp;lt;ref&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Haploid''' is the status of a cell having only a single set of unpaired chromosomes, or half the number of chromosomes contained in typical body cells. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10019-3--sec5&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208594256&amp;amp;uniqId=283289096-7#4-u1.0-B978-0-443-06811-9..10019-3--sec5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''hCG''' is the abbreviation for human chorionic gonadotropin. It is a hormone that functions in the early stage of pregnancy to maintain the blood supply to the corpus luteum.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Homologous chromosomes''' are pairs of chromosomes, one each obtained from maternal and paternal gametes.  46 total chromosome complements are within an organism, 22 pairs of which are homologous chromosomes (called autosomes); the other 2 chromosomes are the sex chromosomes. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6--sec7&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208599219&amp;amp;uniqId=283289096-10#4-u1.0-B978-0-443-06811-9..10001-6--sec9&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
'''Hypoplasia''' is when an organ or tissue is not completely developed.&amp;lt;ref&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Inhibin A''' is a peptide produced by the ovaries and acts to restrain the production of follicle-stimulating hormone.&amp;lt;ref&amp;gt;Melmed, S 2011, ''Melmed: Williams Textbook of Endocrinology, 12th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0324-5..00045-6&amp;amp;isbn=978-1-4377-0324-5&amp;amp;uniqId=282726024-25 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Karyotype''' is an individual's set of chromosomes, both their number and appearance.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Meiosis''' is the specific process of cell division within sex cells which halves the number of chromosomes in the cells through via two cell divisions; this is specific to germ cells only, creating haploid gametes (sex cells) from diploid cells. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
'''Monosomy''' is a condition wherein a specific chromosome is completely missing within one gamete that combines with a normal gamete to form a zygote; a chromosome has no homologue, or matching chromosome, to pair with. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6--sec15&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208595822&amp;amp;uniqId=283289096-8#4-u1.0-B978-0-443-06811-9..10001-6--sec41&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Mosaicism''' is when a particular type or all cells of an individual do not have the same genetic makeup. This is caused by a mutation during embryonic cell division.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Nondisjunction''' is the failure of chromosome pairs to separate entirely during either stage of Meiosis. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec27&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--spara33&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Oligohydramnios''' is a prenatal condition, where there is an insufficient amount of amniotic fluid.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Polyhydramnios''' is a prenatal condition, where there is an excessive amount of amniotic fluid.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Random assortment'''&lt;br /&gt;
&lt;br /&gt;
'''Recombination''' is the process which by genetic material is crossed over and switched between two segments of DNA which adds to the genetic diversity of the genome.&lt;br /&gt;
&lt;br /&gt;
'''SHOX gene''' is the short stature homeobox gene, that when deficient frequently results in short stature.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Sister chromatids'''&lt;br /&gt;
&lt;br /&gt;
'''Ultrasonography''' is a medical technique that employs ultrasound frequencies to visualise a patient's internal bodily structure.&amp;lt;ref&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== References ==&lt;br /&gt;
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	<entry>
		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=73759</id>
		<title>2011 Group Project 1</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=73759"/>
		<updated>2011-09-30T10:43:16Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: &lt;/p&gt;
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== Turner Syndrome ==&lt;br /&gt;
&lt;br /&gt;
--[[User:S8600021|Mark Hill]] 10:44, 8 September 2011 (EST) Some of the existing sub-sections have appropriate content, but there are also empty sub-sections, a total lack of referencing/citation and no glossary. &lt;br /&gt;
* The referencing issue needs urgent  progress.&lt;br /&gt;
* Existing figures/table are appropriate. Table appears to be directly used from an uncited source.&lt;br /&gt;
* There needs to be more images in this work.&lt;br /&gt;
* Where is the student drawn figure?&lt;br /&gt;
* Read http://embryology.med.unsw.edu.au/embryology/index.php?title=Help:Reference_Tutorial#Multiple%20Instances%20on%20Page&lt;br /&gt;
&lt;br /&gt;
== Introduction ==&lt;br /&gt;
&lt;br /&gt;
Turner syndrome, named after Henry Hubert Turner who first described the syndrome in his paper in 1938,&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;4557013&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; is one of the most commonly occuring chromosomal disorders. It is caused by complete or partial X monosomy in some or all cells and occurs in approximately 1 in 2000 live female births, however the morbidity rate of spontaneous abortions is 10% and only about 1% of fetuses survive to term. &lt;br /&gt;
&lt;br /&gt;
During normal fetal development, each ovary contain as many as 7 million oocytes. The oocytes gradually reduced to 400,000 during menarche and during menopause fewer than 10,000 remains. However, in Turner syndrome, the ovaries develop normally during embryogenesis but the absence of the second X chromosome leads to an accelerated loss of oocytes, which is complete by the time the infant, is aged 2. Genetically menopause occurs before menarche and the ovaries are reduced to atrophic fibrous strands, devoid of ova and follicles (streak ovaries). Development of somatic (nongonadal) tissues that reside on the missing/abnormal X chromosome are also severely affected. For example short stature is caused by a deletion of the Xp chromosome and the deletion of Xq causes gonadal dysfunction &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt; 6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
 &lt;br /&gt;
The most frequent clinical feature is short stature and gonadal dysgenesis. Other features may include coarctation of the aorta, renal anomalies, neck webbing, and lymphoedema. The affected organ systems and tissues may are effected to a lesser or greater extent amongst that are affected by turner syndrome. Each person who has turner syndrome all vary in their clinical phenotype. In recent years there has been increased interest in Turner Syndrome due to the introduction of growth hormone treatment. There has been marked improvement in the understanding of this condition as advances in molecular genetic techniques occur. However, there still further research to be completed. A multidisciplinary approach to treatment is important to improve the quality of life of girls with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
 &lt;br /&gt;
[[File:Karyotype.jpg|200px|thumb|left|The arrow indicates the presence of only one X chromosome in Karyotype]]&lt;br /&gt;
&lt;br /&gt;
== Epidemiology ==&lt;br /&gt;
&lt;br /&gt;
Turner Syndrome affects about 1 in 2000 live-born females. There are three types of karyotypic abnormalities but the most frequently seen is where the entire X chromosome is missing resulting in 45 X karyotype. The remaining third have structural abnormalities of the X chromosomes, and two thirds are mosaics. Whereby, the maternal X is retained in two-thirds of women and the paternal X in the remainder.&lt;br /&gt;
The phenotype of Turner Syndrome is varies but it involves anomalies of the sex chromosome. It could be caused by the limited amount of genetic material in these abnormal chromosomes. Turner Syndrome can be transmitted from mother to daughter, and thus can it could be described as a heredity linked syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The loss of one of the sex chromosomes of turner syndrome occurs after the zygote has formed or just after the fusion of the gametes. In 70-80% of cases the retained X is from the mother. In such circumstances has lead to the different phenotypic expression of the genes present on the X chromosome depending upon if it came from the mother or father. &lt;br /&gt;
The morphological differences from those retaining the maternal compared to retaining the paternal X is have shown to have a greater incidence of cardiovascular anomalies and neck webbing. &lt;br /&gt;
The missing sex chromosome could be either an X or a Y. This has clinical implications because if the Y material is present there is a risk of up to 30% of gonadoblastoma developing in the dysgenetic gonads. This is because the 'gonadoblastoma locus' is on the Y chromosome which is believed to be situated on the long arm of the Y just below the centromere.&lt;br /&gt;
Another factor affecting the phenotype in Turner syndrome is the inactivation of the abnormal X chromosomes. In a normal fetus there should be only one X chromosome that is active in each cell &amp;lt;ref&amp;gt;Wade, Nicholas (2009-09-15). '''&amp;quot;New Clues to Sex Anomalies in How Y Chromosomes Are Copied&amp;quot;'''. The New York Times. Retrieved 2010-05-26. http://www.nytimes.com/2009/09/15/science/15chrom.html?pagewanted=1&amp;amp;_r=1&amp;amp;hpw&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
[[File:Stats abnormal.jpg]]  &lt;br /&gt;
&lt;br /&gt;
Abnormalities associated with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Etiology ==&lt;br /&gt;
[[File:nondisjunction.jpg|850px|thumb|right|alt text|This figure shows the progeny created from normal disjunction (A), and non-disjunction during both Meiosis I (B) and Meiosis II (C).]]&lt;br /&gt;
&lt;br /&gt;
Causation of Turner Syndrome (TS) can be traced back to the stages of sex-cell development.  When sex cells divide through a process called [[#Glossary | '''meiosis''']] to create [[#Glossary | '''gametes''']], either a [[#Glossary | '''haploid''']] egg (for females) or sperm (for males) two divisions occur, Meiosis I and Meiosis II.  Meiosis is the main process which helps create the vast genetic diversity within all populations by allowing [[#Glossary | '''recombination''']] and [[#Glossary | '''random assortment''']].  During Meiosis I [[#Glossary | '''homologous chromosomes''']] are separated; following Meiosis I, [[#Glossary | '''sister chromatids''']] separate during Meiosis II.  If during either stage of Meiosis I or II the homologous chromosomes or sister chromatids, respectively, do not fully separate, a phenomenon can occur called [[#Glossary | '''nondisjunction''']].  Nondisjunction causes an uneven distribution of genetic material to each daughter nuclei.  When an uneven distribution is such that one of the gametes does not have any of a chromosome, it can combine with another normal gamete to create a fertilized egg with only one chromosome as opposed to the normal two that are found in human cells; this is called a [[#Glossary | '''monosomy''']].  When this occurs in the sex chromosomes leaving only a single X chromosome (X0 genotype) Turner Syndrome is created, leaving only 45 chromosomes in the zygote rather than the normal 46.  &lt;br /&gt;
&lt;br /&gt;
[[File:22+23=45.jpg|350px|thumb|left|22 chromosomal egg + 23 chromosomal sperm = 45 chromsomes in zygote instead of normal 46.]]&lt;br /&gt;
Turner Syndrome can also be created by partial monosomy or disjunctions, meaning that although a whole X chromosome is not missing, portions of it are not present or are non-functional, rendering the chromosome useless.  Any disjunction seems to be completely sporadic and have yet to be attributed to any genetic link. The only thing known for sure is that during conception a portion of or the whole second sex chromosome is not conveyed to the zygote.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;7763055&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; Because at least one X chromosome is necessary for vital functions, this condition can only be found in females.&lt;br /&gt;
&lt;br /&gt;
== Clinical Manifestations ==&lt;br /&gt;
&lt;br /&gt;
The following are a list of characteristics and diseases which tend to accompany, be caused by, or be related to Turner Syndrome.  &lt;br /&gt;
&lt;br /&gt;
===Physical Attributes:===&lt;br /&gt;
*congenital malformations (heart, urinary system, face, neck, ears) &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*gonadal dysgenesis (causes estrogen deficiencies, which can cause infertility) &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*increased risk of fractures &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16624607&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low cortical bone mineral density (BMD) &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;/&amp;gt;&lt;br /&gt;
*middle ear infections &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*premature ovarian failure &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*short/reduced stature &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*webbed neck &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;17562588&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Decreased Cognition:===&lt;br /&gt;
*emotion processing difficulties &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC3114458&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*increased impulsivity &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2742423&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low IQ score &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2742423&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*nonverbal learning disability (slow math calculations) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC3114458&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*social cognition difficulties &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC3114458&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*visuoperception/visuoconstruction deficit (identifying and locating is difficult due to poor visual working memory) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2742423&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Increased Risk of:===&lt;br /&gt;
*cirrhosis of the liver &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*colon and rectal cancers &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*hypothyroidism &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*inflammatory bowel disease &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*morbidity and mortality &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*neurovascular disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*osteoporosis &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*ovarian failure &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*renal and gastrointestinal disease &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Prone to Develop Autoimmune Conditions:=== &lt;br /&gt;
*alopecia areata &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coeliac disease (CD) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12466343&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*psoriasis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*thyroiditis &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*type 1 diabetes &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Cardiac Abnormalities:===&lt;br /&gt;
(most serious/life threatening medical problems created by Turner Syndrome)&lt;br /&gt;
*absence of portal vein &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16612647&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*aortic dilatation and dissection  &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*arrhythmias &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;17015510&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*arteriosclerosis &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*biscuspid aortic valves &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*coarctation of the aorta &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*hypertension &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
*ischemic heart disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*mitral valve prolapsed &amp;lt;ref name=&amp;quot;PMID17562588&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== Diagnostic Procedures ==&lt;br /&gt;
&lt;br /&gt;
===Diagnostic Definition===&lt;br /&gt;
&lt;br /&gt;
[[File:Turner Syndrome X Chromosome Variations.jpg|thumb|right|Variations of the Second X Chromosome in Turner Syndrome]]&lt;br /&gt;
Turner syndrome is diagnosed through both an evaluation of physical features and by analysis of the second sex chromosome. The two criteria must be met for classification of Turner syndrome, an abnormality in the second sex chromosome must be found and the abnormality must be found to be expressed somehow in the individual's traits. Hence if physical characteristics are not present even when the cytogenetic criterion is met the patient is not diagnosed as having Turner syndrome.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; In Turner syndrome the second sex chromosome is either:&lt;br /&gt;
&lt;br /&gt;
*Completely absent (45,X)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Partially absent&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Forms an isochromosome (isoXq), possessing a long arm duplication (q) and being devoid of a short arm (p)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*In a ring formation (rX)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Is devoid of the homeobox gene, [[#Glossary | '''SHOX''']] (short stature homeobox), the deletion being prior to the junction between Xp22.2 and Xp22.3&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
Any of these variations of the second sex chromosome may occur with or without cell line [[#Glossary | '''mosaicism''']].&lt;br /&gt;
Turner syndrome may be diagnosed prenatally or postnatally, using this genetic diagnostic definition coupled with an appropriate phenotypic evaluation of the individual, as outlined below.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Prenatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
The prenatal diagnostic tool for Turner syndrome is karyotype screening and testing for phenotype abnormalities. If Turner syndrome is diagnosed prenatally, karyotype screening and an evaluation of the individual's traits should be conducted again postnatally for confirmation of this diagnosis. Turner syndrome is frequently diagnosed after karyotype screening during [[#Glossary | '''chorionic villous sampling''']] or [[#Glossary | '''amniocentesis''']].&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
The table below outlines various prenatal tests conducted and the indications that may be present in babies with Turner syndrome. Although these techniques and the indications they reveal may highlight Turner syndrome signs, they should not be used as sole diagnostic tools.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Technique'''&lt;br /&gt;
| '''Turner syndrome indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Ultrasound'''&lt;br /&gt;
|&lt;br /&gt;
*Increased nuchal translucency &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Cystic hygroma''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Coarctation''']] of the aorta &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Left-sided cardiac defects &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Brachycephaly''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Renal anomalies &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Polyhydramnios''']] &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Oligohydramnios''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Growth retardation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;10599686&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Turner Syndrome Test Showing Nuchal Translucency.gif|none|thumb|400px|Figure 2: Ultrasound Test Showing Nuchal Translucency.]]&lt;br /&gt;
[[File:Turner Syndrome Test Showing Cystic Hygroma.gif|none|thumb|400px|Figure 3: Ultrasound Test Showing Cystic Hygroma.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Maternal serum screening'''&lt;br /&gt;
|&lt;br /&gt;
*Abnormal [[#Glossary | '''α-fetoprotein''']] levels &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary | '''inhibin A''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary | '''hCG''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal unconjugated [[#Glossary | '''estriol''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
|[[File: TurnerSyndromeMaternalSerumSampling.jpg|none|thumb|400px|Figure 4: Maternal Serum Sampling.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
===Postnatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
In postnatal diagnosis, [[#Glossary | '''karyotype''']] investigation is undertaken for the individual. When a female presents with the following clinical findings, explained in table below, it is recommended that chromosomal analysis is undertaken, so that Turner syndrome may be eliminated&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;:&lt;br /&gt;
{|sstyle= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Age'''&lt;br /&gt;
| '''Phenotypic manifestations/indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Baby/infant'''&lt;br /&gt;
|&lt;br /&gt;
*Oedema of the hands or feet&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Nuchal folds &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Cardiac abnormalities for example aortic dilation, bicuspid aortic valve and aortic coarctation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Low hairline &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Low set ears &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Small mandible &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Gonadal dysgenesis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Child'''&lt;br /&gt;
| &lt;br /&gt;
*Short stature with low growth velocity &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Cubitus valgus''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Nail [[#Glossary | '''hypoplasia''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Hyperconvex uplifted nails &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Multiple pigmented benign birthmarks/moles &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Characteristic faecies &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Short fourth metacarpal &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*High arched palate &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Extensive and chronic inflammation/infection of the ear &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Hearing loss &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 4 year old child.jpg|left|thumb|150px|Figure 5: Four-year-old girl with Turner's syndrome. Note somewhat broad chest, prominent ears and ptosis, but otherwise normal proportion. There is no pronounced neck webbing or edema.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Adolescent/Adult'''&lt;br /&gt;
|&lt;br /&gt;
*Absence of breast development by 13 yr of age &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Pubertal arrest &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Primary or secondary amenorrhoea&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Unexplained short stature &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Renal abnormalities &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Immune disorders &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 35 year old woman.jpg|none|thumb|150px|Figure 6: A Thirtyfive-year-old woman with Turner's syndrome. Note increased carrying angle of arms, broad flat chest and sexual infantilism, but the lack of pronounced neck webbing or peripheral edema.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Since an absence of the physical signs of puberty and/or growth failure are often seen as normal variations in the population, these possible indications/symptoms of Turner syndrome may not be further investigated by many clinicians.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20361125&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; When karyotyping in order to exclude natural cell variation, a sufficient number of cells should be assessed. Whilst a sample of blood will often reveal Turner syndrome, an evaluation of a second tissue sample like the skin is recommend.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
[[#Glossary | '''DNA hybridisation''']] or [[#Glossary | '''fluorescent in situ hybridisation''']] should be conducted using a Y centromeric or short arm probe to detect for any additional Y or X chromosomal material.&lt;br /&gt;
If there is any of the Y chromosome present, this may initiate [[#Glossary | '''gonadoblastoma''']] development, another primary indicator of Turner syndrome. Hence the individual should have both a vaginal [[#Glossary | '''ultrasonograph''']] and colour [[#Glossary | '''Doppler sonograph''']] of their gonads to detect whether any Y chromosome fragments are present. These tests should be repeated regularly to monitor the patient for any malignancy, if a gonadectomy is not undertaken.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== Treatment ==&lt;br /&gt;
&lt;br /&gt;
=== Cardiac Treatment ===&lt;br /&gt;
&lt;br /&gt;
When patients are confirmed with Turner Syndrome, it is necessary to have a full cardiac evaulation including a physical exam and a echocardiogram. If cardiac abnormalities are found, monitoring by a cardiologist is recommended including regular blood pressure checks&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  Coarctation of the aorta and hypoplastic left heart are quite often very serious issues are need to be dealt with surgically&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
If no abnormalities are found, blood pressure in Turner Syndrome patients is still routinely checked and a follow up cardiac evaulation is recommended for girls around the age of puberty (12-15)&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Speech ===&lt;br /&gt;
&lt;br /&gt;
Many Turner Syndrome patients have trouble with their speech. It is necessary for them to be refered to an Ear, Nose and Throat specialist and to a speech therapist to work on improve any speech problems&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Management of Puberty and Growth ===&lt;br /&gt;
The main treatment for growth and pubertal development is Hormone Replacement Therapy. Growth Hormone is adminstered to girls with abnormal growth, resulting in postive growth that is consistent with the expected height of the patient. It is adminstered as early as 2 years of age, but more often in the age group of 9-12 which is in line with the growth spurt that occurs during puberty&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Natural estrogen and progesterone are administered to girls when they reach the age of puberty in early adolescence. The age at which this treatment commences varies between individuals, as does the dosage. The adminsteration of estrogen will begin the process of puberty in girls affected by Turner Syndrome and it is important that this begins around the same time as her peers&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. The use of estrogen is often held off if the patient is also undergoing GH treatment so that maximum growth can be achieved, as estrogen will induce the fusion of the epiphyses and limit longitudinal bone growth&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Around 10% of nonmosaic and 20% of mosaic women with Turner’s will have spontaneous menses (periods) and may not need to undergo Hormone Replacement to initiate puberty. Around 2-5% of these women will have the potential to fall pregnant naturally&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
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=== Appearance ===&lt;br /&gt;
&lt;br /&gt;
Extreme neck webbing maybe worrying or uncomfortable to women with Turner’s and in some cases plastic surgery is undertaken to fix this problem. Also if convex gorwth of toenails occurs, surgery is conducted so that the woman can wear normal shoes&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Ongoing Adult Treatment ===&lt;br /&gt;
&lt;br /&gt;
Closely monitoring the health of Turner Syndrome adults is vital in the reduction of morbidity and mortality. An annual physical evalution should be undertaken which includes, blood pressure, heart auscultation, thyroid function, breast exam, and pap smear&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  &lt;br /&gt;
&lt;br /&gt;
Particular attention needs to be taken in the area of weight and obesity in Turner Syndrome women due to their high risk of developing diabetes, osteoporosis and hypertension. Patients are to be encouraged to have a healthy lifestyle including healthy eating and exercise&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Research ==&lt;br /&gt;
&lt;br /&gt;
===Current research===&lt;br /&gt;
&lt;br /&gt;
Since there is no preventative or cure, currently mainly research is being conducted into the areas of symptoms, possible treatments and risks involved with Turner syndrome.&lt;br /&gt;
&lt;br /&gt;
'''Growth hormone therapy in Turner syndrome: its affect on height, weight and stature.'''&lt;br /&gt;
*'''Growth hormone effect on body composition in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21720878&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research findings from this paper conclude that people with Turner syndrome have lower height, higher BMI and higher proportional sitting height and leg length than that of the normal population, no matter whether they undergo hormone replacement therapy or not.&lt;br /&gt;
*'''Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21619701&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study has concluded that all adults with Turner syndrome had a similar quality of life regardless of whether they have a higher stature due to undergoing growth hormone replacement therapy or not. It was hypothesised that height differences did not affect quality of life as the individuals seemed to adapt to their own life challenges.&lt;br /&gt;
*'''Growth hormone treatment for Turner syndrome in Australia reveals that younger age and increased dose interact to improve response.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21375553&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research from this study found that growth hormone therapy works most optimally if given earlier in life and at a high dose in the first year of treatment.&lt;br /&gt;
*'''Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21398400&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: Another study which confers that the early introduction of growth hormone therapy is most efficacious. However the individual's glucose metabolism should be monitored as the hormones may affect glucose tolerance transiently.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Oestrogen hormone replacement therapy in Turner syndrome: the adequate dosage and its effect on uterine development, breast development, bone mineral density and sexual characteristics.'''&lt;br /&gt;
*'''Growth hormone plus childhood low-dose estrogen in Turner's syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21449786&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study indicates that undergoing both growth hormone and oestrogen therapy together may help increase the efficacy of each (increasing growth in height and pubertal development) more than when they act alone. &lt;br /&gt;
*'''Estrogen requirements in girls with Turner syndrome; how low is enough for initiating puberty and uterine development?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21793702&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study assessed the minimal dosage of estrogen that is required to bring about desired pubertal development in girls with Turner syndrome.&lt;br /&gt;
*'''Puberty induction in Turner syndrome: results of oestrogen treatment on development of secondary sexual characteristics, uterine dimensions and serum hormone levels.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19200215&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: It was found that uterus of women with Turner syndrome who had undergone oestrogen was underdeveloped, however the exact cause of this needs to be further researched.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Pregnancy and Turner syndrome: evaluation and treatment of risks involved with pregnancy for: the mothers of Turner syndrome babies, for individuals with Turner syndrome and for the babies of individuals with Turner syndrome.'''&lt;br /&gt;
*'''Familial occurrence of Turner syndrome: casual event or increased risk?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21648298&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research examined whether there is a higher probability of having a second child with Turner syndrome and concluded that there is evidence in the small cohort that they used of a greater probability. It is suggested that a larger study be conducted to look further into these findings.that &lt;br /&gt;
*'''Obstetric Outcomes in Women with Turner Karyotype.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21865365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: In this study it was found that women with Turner syndrome had shorter pregnancies than that of a control group, but no other marked difference was observed between the groups.&lt;br /&gt;
*'''Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21496813&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This paper examined a number of pregnant women with Turner syndrome, some who incidentally went through puberty even though they had no hormone replacement therapy and another group that had undertaken hormone replacement therapy. Though there were not many complications in either group, the groups were small in number and one mother did have cardiovascular difficulties later on in life. Hence a thorough examination of pregnant Turner syndrome women should be conducted prior to conception.&lt;br /&gt;
*'''Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20923275&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This article assessed the prognosis of pregnant women with Turner syndrome. They concluded that spontaneous pregnancy increases the risk of the baby having phenotypic and chromosomal abnormalities compared with women having assisted reproductive therapies.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Future research=== &lt;br /&gt;
&lt;br /&gt;
Future research needs to be conducted in the following areas: to follow up on the suggestions given in the conclusions of current research papers as outlined in the prior section and also into how the care system is functioning for Turner syndrome individuals as outlined below.&lt;br /&gt;
&lt;br /&gt;
*'''Medical Care of Girls with Turner Syndrome: Where are we Lacking?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21454226&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research found that a large proportion (&amp;gt;50%) of people with Turner syndrome are not given adequate information upon diagnosis or screenings for complications and symptoms. Therefore it is suggested in order to rectify this issue that more education should be given to physicians on the syndrome&lt;br /&gt;
*'''Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21752892&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; and '''Turner's syndrome requires multidisciplinary approach.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19514616&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: These article evaluate the need for a multidisciplinary approach to treatment of Turner syndrome. Since the symptoms can be wide ranging and severe, it is difficult but necessary for all of them to be examined in each individual. Hence a greater care plan for individuals should be implemented upon diagnosis.&lt;br /&gt;
&lt;br /&gt;
== Glossary ==&lt;br /&gt;
&lt;br /&gt;
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'''Alpha-fetoprotein''' is a protein with an unknown function. It makes up, up to one third of the protein serum levels found in the second trimester of pregnancy and in neural tube defects, these alpha-fetoprotein levels are elevated. &amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
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'''Amniocentesis''' is a prenatal diagnostic tool. The procedure involves the sampling of amniotic fluid from the amniotic sac using a syringe, that is then tested for a number of abnormalities. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Brachycephaly''' is a condition where the coronal suture of the skull fuses prematurely. Since the skull is unable to expand any further in the anterior-posterior directions due to this closure, it grows to an abnormal size in in the lateral dimension.&amp;lt;ref&amp;gt;Flint, P 2010, ''Flint: Cummings Otolaryngology: Head &amp;amp; Neck Surgery, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-323-05283-2..00186-5--s0045&amp;amp;isbn=978-0-323-05283-2&amp;amp;uniqId=282726024-5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Coarctation''' of the aorta is an abnormality where the aorta is constricted at one or various sections. This can be caused by genetic and/or environmental factors.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Chorionic villous sampling''' is a prenatal diagnostic tool which can be used from 7 weeks after fertilisation. It is used to test for a number of chromosomal abnormalities including X-linked and metabolic disorders.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
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'''Cystic hygroma''' is a prenatal abnormality where fluid builds up in the posterior portion of the neck. The body may or may not relieve itself naturally of this accumulation of fluid after birth. &amp;lt;ref&amp;gt;Gabbe, S 2007, ''Gabbe: Obstetrics: Normal and Problem Pregnancies, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-443-06930-7..50011-6--cesec51&amp;amp;isbn=978-0-443-06930-7&amp;amp;uniqId=282726024-10&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''DNA-DNA hybridisation''' is a technique used to compare the similarities and differences between two sets of genes.&amp;lt;ref&amp;gt;Long, S 2009, ''Bradley: Neurology in Clinical Practice, 5th ed.Long: Principles and Practice of Pediatric Infectious Diseases Revised Reprint, 3rd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X&amp;amp;isbn=978-0-7020-3468-8&amp;amp;uniqId=282726024-19#4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Doppler sonography''' uses the doppler effect to help image and measure blood flow pattern in the patient.&amp;lt;ref&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Estriol''' is a hormone that is produced in greater amounts during pregnancy especially in the second and third trimester. One of its main functions is to assist with blood flow in the placenta and uterus.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Gametes''' are reproductive (sex) cells (ie: eggs and sperm) that can unite to form a new cell called a zygote. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6&amp;amp;isbn=978-0-443-06811-9&amp;amp;uniqId=283289096-4#4-u1.0-B978-0-443-06811-9..10001-6--b0020&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Gonadoblastoma''' is an abnormal proliferation of gonadal cells, that may or may not be malignant.&amp;lt;ref&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Haploid''' is the status of a cell having only a single set of unpaired chromosomes, or half the number of chromosomes contained in typical body cells. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10019-3--sec5&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208594256&amp;amp;uniqId=283289096-7#4-u1.0-B978-0-443-06811-9..10019-3--sec5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''hCG''' is the abbreviation for human chorionic gonadotropin. It is a hormone that functions in the early stage of pregnancy to maintain the blood supply to the corpus luteum.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
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'''Homologous chromosomes''' are pairs of chromosomes, one each obtained from maternal and paternal gametes.  46 total chromosome complements are within an organism, 22 pairs of which are homologous chromosomes (called autosomes); the other 2 chromosomes are the sex chromosomes. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6--sec7&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208599219&amp;amp;uniqId=283289096-10#4-u1.0-B978-0-443-06811-9..10001-6--sec9&amp;lt;/ref&amp;gt; &lt;br /&gt;
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'''Hypoplasia''' is when an organ or tissue is not completely developed.&amp;lt;ref&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
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'''Inhibin A''' is a peptide produced by the ovaries and acts to restrain the production of follicle-stimulating hormone.&amp;lt;ref&amp;gt;Melmed, S 2011, ''Melmed: Williams Textbook of Endocrinology, 12th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0324-5..00045-6&amp;amp;isbn=978-1-4377-0324-5&amp;amp;uniqId=282726024-25 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Karyotype''' is an individual's set of chromosomes, both their number and appearance.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
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'''Meiosis''' is the specific process of cell division within sex cells which halves the number of chromosomes in the cells through via two cell divisions; this is specific to germ cells only, creating haploid gametes (sex cells) from diploid cells. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;lt;/ref&amp;gt; &lt;br /&gt;
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'''Monosomy''' is a condition wherein a specific chromosome is completely missing within one gamete that combines with a normal gamete to form a zygote; a chromosome has no homologue, or matching chromosome, to pair with. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6--sec15&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208595822&amp;amp;uniqId=283289096-8#4-u1.0-B978-0-443-06811-9..10001-6--sec41&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Mosaicism''' is when a particular type or all cells of an individual do not have the same genetic makeup. This is caused by a mutation during embryonic cell division.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Nondisjunction''' is the failure of chromosome pairs to separate entirely during either stage of Meiosis. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec27&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--spara33&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Oligohydramnios''' is a prenatal condition, where there is an insufficient amount of amniotic fluid.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Polyhydramnios''' is a prenatal condition, where there is an excessive amount of amniotic fluid.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Random assortment'''&lt;br /&gt;
&lt;br /&gt;
'''Recombination''' is the process which by genetic material is crossed over and switched between two segments of DNA which adds to the genetic diversity of the genome.&lt;br /&gt;
&lt;br /&gt;
'''SHOX gene''' is the short stature homeobox gene, that when deficient frequently results in short stature.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Sister chromatids'''&lt;br /&gt;
&lt;br /&gt;
'''Ultrasonography''' is a medical technique that employs ultrasound frequencies to visualise a patient's internal bodily structure.&amp;lt;ref&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== References ==&lt;br /&gt;
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&amp;lt;references/&amp;gt;&lt;br /&gt;
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{{2011Projects}}&lt;/div&gt;</summary>
		<author><name>Z3217043</name></author>
	</entry>
	<entry>
		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=73758</id>
		<title>2011 Group Project 1</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=73758"/>
		<updated>2011-09-30T10:32:08Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: &lt;/p&gt;
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&lt;div&gt;{{2011ProjectsMH}}&lt;br /&gt;
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== Turner Syndrome ==&lt;br /&gt;
&lt;br /&gt;
--[[User:S8600021|Mark Hill]] 10:44, 8 September 2011 (EST) Some of the existing sub-sections have appropriate content, but there are also empty sub-sections, a total lack of referencing/citation and no glossary. &lt;br /&gt;
* The referencing issue needs urgent  progress.&lt;br /&gt;
* Existing figures/table are appropriate. Table appears to be directly used from an uncited source.&lt;br /&gt;
* There needs to be more images in this work.&lt;br /&gt;
* Where is the student drawn figure?&lt;br /&gt;
* Read http://embryology.med.unsw.edu.au/embryology/index.php?title=Help:Reference_Tutorial#Multiple%20Instances%20on%20Page&lt;br /&gt;
&lt;br /&gt;
== Introduction ==&lt;br /&gt;
&lt;br /&gt;
Turner syndrome, named after Henry Hubert Turner who first described the syndrome in his paper in 1938,&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;4557013&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; is one of the most commonly occuring chromosomal disorders. It is caused by complete or partial X monosomy in some or all cells and occurs in approximately 1 in 2000 live female births, however the morbidity rate of spontaneous abortions is 10% and only about 1% of fetuses survive to term. &lt;br /&gt;
&lt;br /&gt;
During normal fetal development, each ovary contain as many as 7 million oocytes. The oocytes gradually reduced to 400,000 during menarche and during menopause fewer than 10,000 remains. However, in Turner syndrome, the ovaries develop normally during embryogenesis but the absence of the second X chromosome leads to an accelerated loss of oocytes, which is complete by the time the infant, is aged 2. Genetically menopause occurs before menarche and the ovaries are reduced to atrophic fibrous strands, devoid of ova and follicles (streak ovaries). Development of somatic (nongonadal) tissues that reside on the missing/abnormal X chromosome are also severely affected. For example short stature is caused by a deletion of the Xp chromosome and the deletion of Xq causes gonadal dysfunction &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt; 6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
 &lt;br /&gt;
The most frequent clinical feature is short stature and gonadal dysgenesis. Other features may include coarctation of the aorta, renal anomalies, neck webbing, and lymphoedema. The affected organ systems and tissues may are effected to a lesser or greater extent amongst that are affected by turner syndrome. Each person who has turner syndrome all vary in their clinical phenotype. In recent years there has been increased interest in Turner Syndrome due to the introduction of growth hormone treatment. There has been marked improvement in the understanding of this condition as advances in molecular genetic techniques occur. However, there still further research to be completed. A multidisciplinary approach to treatment is important to improve the quality of life of girls with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
 &lt;br /&gt;
[[File:Karyotype.jpg|200px|thumb|left|The arrow indicates the presence of only one X chromosome in Karyotype]]&lt;br /&gt;
&lt;br /&gt;
== Epidemiology ==&lt;br /&gt;
&lt;br /&gt;
Turner Syndrome affects about 1 in 2000 live-born females. There are three types of karyotypic abnormalities but the most frequently seen is where the entire X chromosome is missing resulting in 45 X karyotype. The remaining third have structural abnormalities of the X chromosomes, and two thirds are mosaics. Whereby, the maternal X is retained in two-thirds of women and the paternal X in the remainder.&lt;br /&gt;
The phenotype of Turner Syndrome is varies but it involves anomalies of the sex chromosome. It could be caused by the limited amount of genetic material in these abnormal chromosomes. Turner Syndrome can be transmitted from mother to daughter, and thus can it could be described as a heredity linked syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The loss of one of the sex chromosomes of turner syndrome occurs after the zygote has formed or just after the fusion of the gametes. In 70-80% of cases the retained X is from the mother. In such circumstances has lead to the different phenotypic expression of the genes present on the X chromosome depending upon if it came from the mother or father. &lt;br /&gt;
The morphological differences from those retaining the maternal compared to retaining the paternal X is have shown to have a greater incidence of cardiovascular anomalies and neck webbing. &lt;br /&gt;
The missing sex chromosome could be either an X or a Y. This has clinical implications because if the Y material is present there is a risk of up to 30% of gonadoblastoma developing in the dysgenetic gonads. This is because the 'gonadoblastoma locus' is on the Y chromosome which is believed to be situated on the long arm of the Y just below the centromere.&lt;br /&gt;
Another factor affecting the phenotype in Turner syndrome is the inactivation of the abnormal X chromosomes. In a normal fetus there should be only one X chromosome that is active in each cell &amp;lt;ref&amp;gt;Wade, Nicholas (2009-09-15). '''&amp;quot;New Clues to Sex Anomalies in How Y Chromosomes Are Copied&amp;quot;'''. The New York Times. Retrieved 2010-05-26. http://www.nytimes.com/2009/09/15/science/15chrom.html?pagewanted=1&amp;amp;_r=1&amp;amp;hpw&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
[[File:Stats abnormal.jpg]]  &lt;br /&gt;
&lt;br /&gt;
Abnormalities associated with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Etiology ==&lt;br /&gt;
[[File:nondisjunction.jpg|850px|thumb|right|alt text|This figure shows the progeny created from normal disjunction (A), and non-disjunction during both Meiosis I (B) and Meiosis II (C).]]&lt;br /&gt;
&lt;br /&gt;
Causation of Turner Syndrome (TS) can be traced back to the stages of sex-cell development.  When sex cells divide through a process called [[#Glossary | '''meiosis''']] to create [[#Glossary | '''gametes''']], either a [[#Glossary | '''haploid''']] egg (for females) or sperm (for males) two divisions occur, Meiosis I and Meiosis II.  Meiosis is the main process which helps create the vast genetic diversity within all populations by allowing [[#Glossary | '''recombination''']] and [[#Glossary | '''random assortment''']].  During Meiosis I [[#Glossary | '''homologous chromosomes''']] are separated; following Meiosis I, [[#Glossary | '''sister chromatids''']] separate during Meiosis II.  If during either stage of Meiosis I or II the homologous chromosomes or sister chromatids, respectively, do not fully separate, a phenomenon can occur called [[#Glossary | '''nondisjunction''']].  Nondisjunction causes an uneven distribution of genetic material to each daughter nuclei.  When an uneven distribution is such that one of the gametes does not have any of a chromosome, it can combine with another normal gamete to create a fertilized egg with only one chromosome as opposed to the normal two that are found in human cells; this is called a [[#Glossary | '''monosomy''']].  When this occurs in the sex chromosomes leaving only a single X chromosome (X0 genotype) Turner Syndrome is created, leaving only 45 chromosomes in the zygote rather than the normal 46.  &lt;br /&gt;
&lt;br /&gt;
[[File:22+23=45.jpg|350px|thumb|left|22 chromosomal egg + 23 chromosomal sperm = 45 chromsomes in zygote instead of normal 46.]]&lt;br /&gt;
Turner Syndrome can also be created by partial monosomy or disjunctions, meaning that although a whole X chromosome is not missing, portions of it are not present or are non-functional, rendering the chromosome useless.  Any disjunction seems to be completely sporadic and have yet to be attributed to any genetic link. The only thing known for sure is that during conception a portion of or the whole second sex chromosome is not conveyed to the zygote.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;7763055&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; Because at least one X chromosome is necessary for vital functions, this condition can only be found in females.&lt;br /&gt;
&lt;br /&gt;
== Clinical Manifestations ==&lt;br /&gt;
&lt;br /&gt;
The following are a list of characteristics and diseases which tend to accompany, be caused by, or be related to Turner Syndrome.  &lt;br /&gt;
&lt;br /&gt;
===Physical Attributes:===&lt;br /&gt;
*congenital malformations (heart, urinary system, face, neck, ears) &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*gonadal dysgenesis (causes estrogen deficiencies, which can cause infertility) &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*increased risk of fractures &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16624607&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low cortical bone mineral density (BMD) &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;/&amp;gt;&lt;br /&gt;
*middle ear infections &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*premature ovarian failure &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*short/reduced stature &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*webbed neck &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Decreased Cognition:===&lt;br /&gt;
*emotion processing difficulties &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC3114458&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*increased impulsivity &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2742423&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low IQ score &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2742423&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*nonverbal learning disability (slow math calculations) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC3114458&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*social cognition difficulties &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC3114458&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*visuoperception/visuoconstruction deficit (identifying and locating is difficult due to poor visual working memory) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2742423&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Increased Risk of:===&lt;br /&gt;
*cirrhosis of the liver &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*colon and rectal cancers &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*hypothyroidism &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*inflammatory bowel disease &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*morbidity and mortality &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*neurovascular disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*osteoporosis &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*ovarian failure &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*renal and gastrointestinal disease &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Prone to Develop Autoimmune Conditions:=== &lt;br /&gt;
*alopecia areata &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coeliac disease (CD) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12466343&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*psoriasis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*thyroiditis &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*type 1 diabetes &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Cardiac Abnormalities:===&lt;br /&gt;
(most serious/life threatening medical problems created by Turner Syndrome)&lt;br /&gt;
*absence of portal vein &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16612647&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*aortic dilatation and dissection  &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*arrhythmias &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;17015510&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*arteriosclerosis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*biscuspid aortic valves &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coarctation of the aorta &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*hypertension &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*ischemic heart disease &amp;lt;ref name=&amp;quot;PMID16929365&amp;quot;/&amp;gt;&lt;br /&gt;
*mitral valve prolapsed &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== Diagnostic Procedures ==&lt;br /&gt;
&lt;br /&gt;
===Diagnostic Definition===&lt;br /&gt;
&lt;br /&gt;
[[File:Turner Syndrome X Chromosome Variations.jpg|thumb|right|Variations of the Second X Chromosome in Turner Syndrome]]&lt;br /&gt;
Turner syndrome is diagnosed through both an evaluation of physical features and by analysis of the second sex chromosome. The two criteria must be met for classification of Turner syndrome, an abnormality in the second sex chromosome must be found and the abnormality must be found to be expressed somehow in the individual's traits. Hence if physical characteristics are not present even when the cytogenetic criterion is met the patient is not diagnosed as having Turner syndrome.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; In Turner syndrome the second sex chromosome is either:&lt;br /&gt;
&lt;br /&gt;
*Completely absent (45,X)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Partially absent&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Forms an isochromosome (isoXq), possessing a long arm duplication (q) and being devoid of a short arm (p)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*In a ring formation (rX)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Is devoid of the homeobox gene, [[#Glossary | '''SHOX''']] (short stature homeobox), the deletion being prior to the junction between Xp22.2 and Xp22.3&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
Any of these variations of the second sex chromosome may occur with or without cell line [[#Glossary | '''mosaicism''']].&lt;br /&gt;
Turner syndrome may be diagnosed prenatally or postnatally, using this genetic diagnostic definition coupled with an appropriate phenotypic evaluation of the individual, as outlined below.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Prenatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
The prenatal diagnostic tool for Turner syndrome is karyotype screening and testing for phenotype abnormalities. If Turner syndrome is diagnosed prenatally, karyotype screening and an evaluation of the individual's traits should be conducted again postnatally for confirmation of this diagnosis. Turner syndrome is frequently diagnosed after karyotype screening during [[#Glossary | '''chorionic villous sampling''']] or [[#Glossary | '''amniocentesis''']].&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
The table below outlines various prenatal tests conducted and the indications that may be present in babies with Turner syndrome. Although these techniques and the indications they reveal may highlight Turner syndrome signs, they should not be used as sole diagnostic tools.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Technique'''&lt;br /&gt;
| '''Turner syndrome indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Ultrasound'''&lt;br /&gt;
|&lt;br /&gt;
*Increased nuchal translucency &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Cystic hygroma''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Coarctation''']] of the aorta &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Left-sided cardiac defects &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Brachycephaly''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Renal anomalies &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Polyhydramnios''']] &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Oligohydramnios''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Growth retardation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;10599686&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Turner Syndrome Test Showing Nuchal Translucency.gif|none|thumb|400px|Figure 2: Ultrasound Test Showing Nuchal Translucency.]]&lt;br /&gt;
[[File:Turner Syndrome Test Showing Cystic Hygroma.gif|none|thumb|400px|Figure 3: Ultrasound Test Showing Cystic Hygroma.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Maternal serum screening'''&lt;br /&gt;
|&lt;br /&gt;
*Abnormal [[#Glossary | '''α-fetoprotein''']] levels &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary | '''inhibin A''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary | '''hCG''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal unconjugated [[#Glossary | '''estriol''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
|[[File: TurnerSyndromeMaternalSerumSampling.jpg|none|thumb|400px|Figure 4: Maternal Serum Sampling.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
===Postnatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
In postnatal diagnosis, [[#Glossary | '''karyotype''']] investigation is undertaken for the individual. When a female presents with the following clinical findings, explained in table below, it is recommended that chromosomal analysis is undertaken, so that Turner syndrome may be eliminated&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;:&lt;br /&gt;
{|sstyle= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Age'''&lt;br /&gt;
| '''Phenotypic manifestations/indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Baby/infant'''&lt;br /&gt;
|&lt;br /&gt;
*Oedema of the hands or feet&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Nuchal folds &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Cardiac abnormalities for example aortic dilation, bicuspid aortic valve and aortic coarctation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Low hairline &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Low set ears &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Small mandible &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Gonadal dysgenesis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Child'''&lt;br /&gt;
| &lt;br /&gt;
*Short stature with low growth velocity &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Cubitus valgus''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Nail [[#Glossary | '''hypoplasia''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Hyperconvex uplifted nails &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Multiple pigmented benign birthmarks/moles &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Characteristic faecies &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Short fourth metacarpal &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*High arched palate &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Extensive and chronic inflammation/infection of the ear &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Hearing loss &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 4 year old child.jpg|left|thumb|150px|Figure 5: Four-year-old girl with Turner's syndrome. Note somewhat broad chest, prominent ears and ptosis, but otherwise normal proportion. There is no pronounced neck webbing or edema.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Adolescent/Adult'''&lt;br /&gt;
|&lt;br /&gt;
*Absence of breast development by 13 yr of age &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Pubertal arrest &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Primary or secondary amenorrhoea&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Unexplained short stature &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Renal abnormalities &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Immune disorders &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 35 year old woman.jpg|none|thumb|150px|Figure 6: A Thirtyfive-year-old woman with Turner's syndrome. Note increased carrying angle of arms, broad flat chest and sexual infantilism, but the lack of pronounced neck webbing or peripheral edema.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Since an absence of the physical signs of puberty and/or growth failure are often seen as normal variations in the population, these possible indications/symptoms of Turner syndrome may not be further investigated by many clinicians.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20361125&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; When karyotyping in order to exclude natural cell variation, a sufficient number of cells should be assessed. Whilst a sample of blood will often reveal Turner syndrome, an evaluation of a second tissue sample like the skin is recommend.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
[[#Glossary | '''DNA hybridisation''']] or [[#Glossary | '''fluorescent in situ hybridisation''']] should be conducted using a Y centromeric or short arm probe to detect for any additional Y or X chromosomal material.&lt;br /&gt;
If there is any of the Y chromosome present, this may initiate [[#Glossary | '''gonadoblastoma''']] development, another primary indicator of Turner syndrome. Hence the individual should have both a vaginal [[#Glossary | '''ultrasonograph''']] and colour [[#Glossary | '''Doppler sonograph''']] of their gonads to detect whether any Y chromosome fragments are present. These tests should be repeated regularly to monitor the patient for any malignancy, if a gonadectomy is not undertaken.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== Treatment ==&lt;br /&gt;
&lt;br /&gt;
=== Cardiac Treatment ===&lt;br /&gt;
&lt;br /&gt;
When patients are confirmed with Turner Syndrome, it is necessary to have a full cardiac evaulation including a physical exam and a echocardiogram. If cardiac abnormalities are found, monitoring by a cardiologist is recommended including regular blood pressure checks&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  Coarctation of the aorta and hypoplastic left heart are quite often very serious issues are need to be dealt with surgically&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
If no abnormalities are found, blood pressure in Turner Syndrome patients is still routinely checked and a follow up cardiac evaulation is recommended for girls around the age of puberty (12-15)&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Speech ===&lt;br /&gt;
&lt;br /&gt;
Many Turner Syndrome patients have trouble with their speech. It is necessary for them to be refered to an Ear, Nose and Throat specialist and to a speech therapist to work on improve any speech problems&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Management of Puberty and Growth ===&lt;br /&gt;
The main treatment for growth and pubertal development is Hormone Replacement Therapy. Growth Hormone is adminstered to girls with abnormal growth, resulting in postive growth that is consistent with the expected height of the patient. It is adminstered as early as 2 years of age, but more often in the age group of 9-12 which is in line with the growth spurt that occurs during puberty&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Natural estrogen and progesterone are administered to girls when they reach the age of puberty in early adolescence. The age at which this treatment commences varies between individuals, as does the dosage. The adminsteration of estrogen will begin the process of puberty in girls affected by Turner Syndrome and it is important that this begins around the same time as her peers&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. The use of estrogen is often held off if the patient is also undergoing GH treatment so that maximum growth can be achieved, as estrogen will induce the fusion of the epiphyses and limit longitudinal bone growth&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Around 10% of nonmosaic and 20% of mosaic women with Turner’s will have spontaneous menses (periods) and may not need to undergo Hormone Replacement to initiate puberty. Around 2-5% of these women will have the potential to fall pregnant naturally&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
=== Appearance ===&lt;br /&gt;
&lt;br /&gt;
Extreme neck webbing maybe worrying or uncomfortable to women with Turner’s and in some cases plastic surgery is undertaken to fix this problem. Also if convex gorwth of toenails occurs, surgery is conducted so that the woman can wear normal shoes&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Ongoing Adult Treatment ===&lt;br /&gt;
&lt;br /&gt;
Closely monitoring the health of Turner Syndrome adults is vital in the reduction of morbidity and mortality. An annual physical evalution should be undertaken which includes, blood pressure, heart auscultation, thyroid function, breast exam, and pap smear&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  &lt;br /&gt;
&lt;br /&gt;
Particular attention needs to be taken in the area of weight and obesity in Turner Syndrome women due to their high risk of developing diabetes, osteoporosis and hypertension. Patients are to be encouraged to have a healthy lifestyle including healthy eating and exercise&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Research ==&lt;br /&gt;
&lt;br /&gt;
===Current research===&lt;br /&gt;
&lt;br /&gt;
Since there is no preventative or cure, currently mainly research is being conducted into the areas of symptoms, possible treatments and risks involved with Turner syndrome.&lt;br /&gt;
&lt;br /&gt;
'''Growth hormone therapy in Turner syndrome: its affect on height, weight and stature.'''&lt;br /&gt;
*'''Growth hormone effect on body composition in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21720878&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research findings from this paper conclude that people with Turner syndrome have lower height, higher BMI and higher proportional sitting height and leg length than that of the normal population, no matter whether they undergo hormone replacement therapy or not.&lt;br /&gt;
*'''Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21619701&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study has concluded that all adults with Turner syndrome had a similar quality of life regardless of whether they have a higher stature due to undergoing growth hormone replacement therapy or not. It was hypothesised that height differences did not affect quality of life as the individuals seemed to adapt to their own life challenges.&lt;br /&gt;
*'''Growth hormone treatment for Turner syndrome in Australia reveals that younger age and increased dose interact to improve response.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21375553&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research from this study found that growth hormone therapy works most optimally if given earlier in life and at a high dose in the first year of treatment.&lt;br /&gt;
*'''Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21398400&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: Another study which confers that the early introduction of growth hormone therapy is most efficacious. However the individual's glucose metabolism should be monitored as the hormones may affect glucose tolerance transiently.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Oestrogen hormone replacement therapy in Turner syndrome: the adequate dosage and its effect on uterine development, breast development, bone mineral density and sexual characteristics.'''&lt;br /&gt;
*'''Growth hormone plus childhood low-dose estrogen in Turner's syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21449786&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study indicates that undergoing both growth hormone and oestrogen therapy together may help increase the efficacy of each (increasing growth in height and pubertal development) more than when they act alone. &lt;br /&gt;
*'''Estrogen requirements in girls with Turner syndrome; how low is enough for initiating puberty and uterine development?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21793702&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study assessed the minimal dosage of estrogen that is required to bring about desired pubertal development in girls with Turner syndrome.&lt;br /&gt;
*'''Puberty induction in Turner syndrome: results of oestrogen treatment on development of secondary sexual characteristics, uterine dimensions and serum hormone levels.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19200215&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: It was found that uterus of women with Turner syndrome who had undergone oestrogen was underdeveloped, however the exact cause of this needs to be further researched.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Pregnancy and Turner syndrome: evaluation and treatment of risks involved with pregnancy for: the mothers of Turner syndrome babies, for individuals with Turner syndrome and for the babies of individuals with Turner syndrome.'''&lt;br /&gt;
*'''Familial occurrence of Turner syndrome: casual event or increased risk?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21648298&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research examined whether there is a higher probability of having a second child with Turner syndrome and concluded that there is evidence in the small cohort that they used of a greater probability. It is suggested that a larger study be conducted to look further into these findings.that &lt;br /&gt;
*'''Obstetric Outcomes in Women with Turner Karyotype.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21865365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: In this study it was found that women with Turner syndrome had shorter pregnancies than that of a control group, but no other marked difference was observed between the groups.&lt;br /&gt;
*'''Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21496813&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This paper examined a number of pregnant women with Turner syndrome, some who incidentally went through puberty even though they had no hormone replacement therapy and another group that had undertaken hormone replacement therapy. Though there were not many complications in either group, the groups were small in number and one mother did have cardiovascular difficulties later on in life. Hence a thorough examination of pregnant Turner syndrome women should be conducted prior to conception.&lt;br /&gt;
*'''Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20923275&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This article assessed the prognosis of pregnant women with Turner syndrome. They concluded that spontaneous pregnancy increases the risk of the baby having phenotypic and chromosomal abnormalities compared with women having assisted reproductive therapies.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Future research=== &lt;br /&gt;
&lt;br /&gt;
Future research needs to be conducted in the following areas: to follow up on the suggestions given in the conclusions of current research papers as outlined in the prior section and also into how the care system is functioning for Turner syndrome individuals as outlined below.&lt;br /&gt;
&lt;br /&gt;
*'''Medical Care of Girls with Turner Syndrome: Where are we Lacking?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21454226&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research found that a large proportion (&amp;gt;50%) of people with Turner syndrome are not given adequate information upon diagnosis or screenings for complications and symptoms. Therefore it is suggested in order to rectify this issue that more education should be given to physicians on the syndrome&lt;br /&gt;
*'''Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21752892&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; and '''Turner's syndrome requires multidisciplinary approach.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19514616&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: These article evaluate the need for a multidisciplinary approach to treatment of Turner syndrome. Since the symptoms can be wide ranging and severe, it is difficult but necessary for all of them to be examined in each individual. Hence a greater care plan for individuals should be implemented upon diagnosis.&lt;br /&gt;
&lt;br /&gt;
== Glossary ==&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Alpha-fetoprotein''' is a protein with an unknown function. It makes up, up to one third of the protein serum levels found in the second trimester of pregnancy and in neural tube defects, these alpha-fetoprotein levels are elevated. &amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Amniocentesis''' is a prenatal diagnostic tool. The procedure involves the sampling of amniotic fluid from the amniotic sac using a syringe, that is then tested for a number of abnormalities. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Brachycephaly''' is a condition where the coronal suture of the skull fuses prematurely. Since the skull is unable to expand any further in the anterior-posterior directions due to this closure, it grows to an abnormal size in in the lateral dimension.&amp;lt;ref&amp;gt;Flint, P 2010, ''Flint: Cummings Otolaryngology: Head &amp;amp; Neck Surgery, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-323-05283-2..00186-5--s0045&amp;amp;isbn=978-0-323-05283-2&amp;amp;uniqId=282726024-5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Coarctation''' of the aorta is an abnormality where the aorta is constricted at one or various sections. This can be caused by genetic and/or environmental factors.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Chorionic villous sampling''' is a prenatal diagnostic tool which can be used from 7 weeks after fertilisation. It is used to test for a number of chromosomal abnormalities including X-linked and metabolic disorders.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Cystic hygroma''' is a prenatal abnormality where fluid builds up in the posterior portion of the neck. The body may or may not relieve itself naturally of this accumulation of fluid after birth. &amp;lt;ref&amp;gt;Gabbe, S 2007, ''Gabbe: Obstetrics: Normal and Problem Pregnancies, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-443-06930-7..50011-6--cesec51&amp;amp;isbn=978-0-443-06930-7&amp;amp;uniqId=282726024-10&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''DNA-DNA hybridisation''' is a technique used to compare the similarities and differences between two sets of genes.&amp;lt;ref&amp;gt;Long, S 2009, ''Bradley: Neurology in Clinical Practice, 5th ed.Long: Principles and Practice of Pediatric Infectious Diseases Revised Reprint, 3rd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X&amp;amp;isbn=978-0-7020-3468-8&amp;amp;uniqId=282726024-19#4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Doppler sonography''' uses the doppler effect to help image and measure blood flow pattern in the patient.&amp;lt;ref&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Estriol''' is a hormone that is produced in greater amounts during pregnancy especially in the second and third trimester. One of its main functions is to assist with blood flow in the placenta and uterus.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Gametes''' are reproductive (sex) cells (ie: eggs and sperm) that can unite to form a new cell called a zygote. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6&amp;amp;isbn=978-0-443-06811-9&amp;amp;uniqId=283289096-4#4-u1.0-B978-0-443-06811-9..10001-6--b0020&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Gonadoblastoma''' is an abnormal proliferation of gonadal cells, that may or may not be malignant.&amp;lt;ref&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Haploid''' is the status of a cell having only a single set of unpaired chromosomes, or half the number of chromosomes contained in typical body cells. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10019-3--sec5&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208594256&amp;amp;uniqId=283289096-7#4-u1.0-B978-0-443-06811-9..10019-3--sec5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''hCG''' is the abbreviation for human chorionic gonadotropin. It is a hormone that functions in the early stage of pregnancy to maintain the blood supply to the corpus luteum.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Homologous chromosomes''' are pairs of chromosomes, one each obtained from maternal and paternal gametes.  46 total chromosome complements are within an organism, 22 pairs of which are homologous chromosomes (called autosomes); the other 2 chromosomes are the sex chromosomes. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6--sec7&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208599219&amp;amp;uniqId=283289096-10#4-u1.0-B978-0-443-06811-9..10001-6--sec9&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
'''Hypoplasia''' is when an organ or tissue is not completely developed.&amp;lt;ref&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Inhibin A''' is a peptide produced by the ovaries and acts to restrain the production of follicle-stimulating hormone.&amp;lt;ref&amp;gt;Melmed, S 2011, ''Melmed: Williams Textbook of Endocrinology, 12th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0324-5..00045-6&amp;amp;isbn=978-1-4377-0324-5&amp;amp;uniqId=282726024-25 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Karyotype''' is an individual's set of chromosomes, both their number and appearance.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Meiosis''' is the specific process of cell division within sex cells which halves the number of chromosomes in the cells through via two cell divisions; this is specific to germ cells only, creating haploid gametes (sex cells) from diploid cells. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
'''Monosomy''' is a condition wherein a specific chromosome is completely missing within one gamete that combines with a normal gamete to form a zygote; a chromosome has no homologue, or matching chromosome, to pair with. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6--sec15&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208595822&amp;amp;uniqId=283289096-8#4-u1.0-B978-0-443-06811-9..10001-6--sec41&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Mosaicism''' is when a particular type or all cells of an individual do not have the same genetic makeup. This is caused by a mutation during embryonic cell division.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Nondisjunction''' is the failure of chromosome pairs to separate entirely during either stage of Meiosis. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec27&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--spara33&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Oligohydramnios''' is a prenatal condition, where there is an insufficient amount of amniotic fluid.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Polyhydramnios''' is a prenatal condition, where there is an excessive amount of amniotic fluid.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Random assortment'''&lt;br /&gt;
&lt;br /&gt;
'''Recombination''' is the process which by genetic material is crossed over and switched between two segments of DNA which adds to the genetic diversity of the genome.&lt;br /&gt;
&lt;br /&gt;
'''SHOX gene''' is the short stature homeobox gene, that when deficient frequently results in short stature.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Sister chromatids'''&lt;br /&gt;
&lt;br /&gt;
'''Ultrasonography''' is a medical technique that employs ultrasound frequencies to visualise a patient's internal bodily structure.&amp;lt;ref&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== References ==&lt;br /&gt;
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&amp;lt;references/&amp;gt;&lt;br /&gt;
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{{2011Projects}}&lt;/div&gt;</summary>
		<author><name>Z3217043</name></author>
	</entry>
	<entry>
		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=73757</id>
		<title>2011 Group Project 1</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=73757"/>
		<updated>2011-09-30T10:27:02Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: &lt;/p&gt;
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&lt;div&gt;{{2011ProjectsMH}}&lt;br /&gt;
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== Turner Syndrome ==&lt;br /&gt;
&lt;br /&gt;
--[[User:S8600021|Mark Hill]] 10:44, 8 September 2011 (EST) Some of the existing sub-sections have appropriate content, but there are also empty sub-sections, a total lack of referencing/citation and no glossary. &lt;br /&gt;
* The referencing issue needs urgent  progress.&lt;br /&gt;
* Existing figures/table are appropriate. Table appears to be directly used from an uncited source.&lt;br /&gt;
* There needs to be more images in this work.&lt;br /&gt;
* Where is the student drawn figure?&lt;br /&gt;
* Read http://embryology.med.unsw.edu.au/embryology/index.php?title=Help:Reference_Tutorial#Multiple%20Instances%20on%20Page&lt;br /&gt;
&lt;br /&gt;
== Introduction ==&lt;br /&gt;
&lt;br /&gt;
Turner syndrome, named after Henry Hubert Turner who first described the syndrome in his paper in 1938,&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;4557013&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; is one of the most commonly occuring chromosomal disorders. It is caused by complete or partial X monosomy in some or all cells and occurs in approximately 1 in 2000 live female births, however the morbidity rate of spontaneous abortions is 10% and only about 1% of fetuses survive to term. &lt;br /&gt;
&lt;br /&gt;
During normal fetal development, each ovary contain as many as 7 million oocytes. The oocytes gradually reduced to 400,000 during menarche and during menopause fewer than 10,000 remains. However, in Turner syndrome, the ovaries develop normally during embryogenesis but the absence of the second X chromosome leads to an accelerated loss of oocytes, which is complete by the time the infant, is aged 2. Genetically menopause occurs before menarche and the ovaries are reduced to atrophic fibrous strands, devoid of ova and follicles (streak ovaries). Development of somatic (nongonadal) tissues that reside on the missing/abnormal X chromosome are also severely affected. For example short stature is caused by a deletion of the Xp chromosome and the deletion of Xq causes gonadal dysfunction &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt; 6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
 &lt;br /&gt;
The most frequent clinical feature is short stature and gonadal dysgenesis. Other features may include coarctation of the aorta, renal anomalies, neck webbing, and lymphoedema. The affected organ systems and tissues may are effected to a lesser or greater extent amongst that are affected by turner syndrome. Each person who has turner syndrome all vary in their clinical phenotype. In recent years there has been increased interest in Turner Syndrome due to the introduction of growth hormone treatment. There has been marked improvement in the understanding of this condition as advances in molecular genetic techniques occur. However, there still further research to be completed. A multidisciplinary approach to treatment is important to improve the quality of life of girls with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
 &lt;br /&gt;
[[File:Karyotype.jpg|200px|thumb|left|The arrow indicates the presence of only one X chromosome in Karyotype]]&lt;br /&gt;
&lt;br /&gt;
== Epidemiology ==&lt;br /&gt;
&lt;br /&gt;
Turner Syndrome affects about 1 in 2000 live-born females. There are three types of karyotypic abnormalities but the most frequently seen is where the entire X chromosome is missing resulting in 45 X karyotype. The remaining third have structural abnormalities of the X chromosomes, and two thirds are mosaics. Whereby, the maternal X is retained in two-thirds of women and the paternal X in the remainder.&lt;br /&gt;
The phenotype of Turner Syndrome is varies but it involves anomalies of the sex chromosome. It could be caused by the limited amount of genetic material in these abnormal chromosomes. Turner Syndrome can be transmitted from mother to daughter, and thus can it could be described as a heredity linked syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The loss of one of the sex chromosomes of turner syndrome occurs after the zygote has formed or just after the fusion of the gametes. In 70-80% of cases the retained X is from the mother. In such circumstances has lead to the different phenotypic expression of the genes present on the X chromosome depending upon if it came from the mother or father. &lt;br /&gt;
The morphological differences from those retaining the maternal compared to retaining the paternal X is have shown to have a greater incidence of cardiovascular anomalies and neck webbing. &lt;br /&gt;
The missing sex chromosome could be either an X or a Y. This has clinical implications because if the Y material is present there is a risk of up to 30% of gonadoblastoma developing in the dysgenetic gonads. This is because the 'gonadoblastoma locus' is on the Y chromosome which is believed to be situated on the long arm of the Y just below the centromere.&lt;br /&gt;
Another factor affecting the phenotype in Turner syndrome is the inactivation of the abnormal X chromosomes. In a normal fetus there should be only one X chromosome that is active in each cell &amp;lt;ref&amp;gt;Wade, Nicholas (2009-09-15). '''&amp;quot;New Clues to Sex Anomalies in How Y Chromosomes Are Copied&amp;quot;'''. The New York Times. Retrieved 2010-05-26. http://www.nytimes.com/2009/09/15/science/15chrom.html?pagewanted=1&amp;amp;_r=1&amp;amp;hpw&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
[[File:Stats abnormal.jpg]]  &lt;br /&gt;
&lt;br /&gt;
Abnormalities associated with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Etiology ==&lt;br /&gt;
[[File:nondisjunction.jpg|850px|thumb|right|alt text|This figure shows the progeny created from normal disjunction (A), and non-disjunction during both Meiosis I (B) and Meiosis II (C).]]&lt;br /&gt;
&lt;br /&gt;
Causation of Turner Syndrome (TS) can be traced back to the stages of sex-cell development.  When sex cells divide through a process called [[#Glossary | '''meiosis''']] to create [[#Glossary | '''gametes''']], either a [[#Glossary | '''haploid''']] egg (for females) or sperm (for males) two divisions occur, Meiosis I and Meiosis II.  Meiosis is the main process which helps create the vast genetic diversity within all populations by allowing [[#Glossary | '''recombination''']] and [[#Glossary | '''random assortment''']].  During Meiosis I [[#Glossary | '''homologous chromosomes''']] are separated; following Meiosis I, [[#Glossary | '''sister chromatids''']] separate during Meiosis II.  If during either stage of Meiosis I or II the homologous chromosomes or sister chromatids, respectively, do not fully separate, a phenomenon can occur called [[#Glossary | '''nondisjunction''']].  Nondisjunction causes an uneven distribution of genetic material to each daughter nuclei.  When an uneven distribution is such that one of the gametes does not have any of a chromosome, it can combine with another normal gamete to create a fertilized egg with only one chromosome as opposed to the normal two that are found in human cells; this is called a [[#Glossary | '''monosomy''']].  When this occurs in the sex chromosomes leaving only a single X chromosome (X0 genotype) Turner Syndrome is created, leaving only 45 chromosomes in the zygote rather than the normal 46.  &lt;br /&gt;
&lt;br /&gt;
[[File:22+23=45.jpg|350px|thumb|left|22 chromosomal egg + 23 chromosomal sperm = 45 chromsomes in zygote instead of normal 46.]]&lt;br /&gt;
Turner Syndrome can also be created by partial monosomy or disjunctions, meaning that although a whole X chromosome is not missing, portions of it are not present or are non-functional, rendering the chromosome useless.  Any disjunction seems to be completely sporadic and have yet to be attributed to any genetic link. The only thing known for sure is that during conception a portion of or the whole second sex chromosome is not conveyed to the zygote.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;7763055&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; Because at least one X chromosome is necessary for vital functions, this condition can only be found in females.&lt;br /&gt;
&lt;br /&gt;
== Clinical Manifestations ==&lt;br /&gt;
&lt;br /&gt;
The following are a list of characteristics and diseases which tend to accompany, be caused by, or be related to Turner Syndrome.  &lt;br /&gt;
&lt;br /&gt;
===Physical Attributes:===&lt;br /&gt;
*congenital malformations (heart, urinary system, face, neck, ears) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*gonadal dysgenesis (causes estrogen deficiencies, which can cause infertility) &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*increased risk of fractures &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16624607&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low cortical bone mineral density (BMD) &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;/&amp;gt;&lt;br /&gt;
*middle ear infections &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*premature ovarian failure &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*short/reduced stature &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*webbed neck &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Decreased Cognition:===&lt;br /&gt;
*emotion processing difficulties &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC3114458&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*increased impulsivity &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2742423&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low IQ score &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2742423&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*nonverbal learning disability (slow math calculations) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC3114458&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*social cognition difficulties &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC3114458&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*visuoperception/visuoconstruction deficit (identifying and locating is difficult due to poor visual working memory) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2742423&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Increased Risk of:===&lt;br /&gt;
*cirrhosis of the liver &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*colon and rectal cancers &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*hypothyroidism &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*inflammatory bowel disease &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*morbidity and mortality &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*neurovascular disease &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*osteoporosis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*ovarian failure &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*renal and gastrointestinal disease &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Prone to Develop Autoimmune Conditions:=== &lt;br /&gt;
*alopecia areata &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coeliac disease (CD) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12466343&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*psoriasis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*thyroiditis &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*type 1 diabetes &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Cardiac Abnormalities:===&lt;br /&gt;
(most serious/life threatening medical problems created by Turner Syndrome)&lt;br /&gt;
*absence of portal vein &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16612647&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*aortic dilatation and dissection  &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*arrhythmias &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;17015510&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*arteriosclerosis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*biscuspid aortic valves &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coarctation of the aorta &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*hypertension &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*ischemic heart disease &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*mitral valve prolapsed &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== Diagnostic Procedures ==&lt;br /&gt;
&lt;br /&gt;
===Diagnostic Definition===&lt;br /&gt;
&lt;br /&gt;
[[File:Turner Syndrome X Chromosome Variations.jpg|thumb|right|Variations of the Second X Chromosome in Turner Syndrome]]&lt;br /&gt;
Turner syndrome is diagnosed through both an evaluation of physical features and by analysis of the second sex chromosome. The two criteria must be met for classification of Turner syndrome, an abnormality in the second sex chromosome must be found and the abnormality must be found to be expressed somehow in the individual's traits. Hence if physical characteristics are not present even when the cytogenetic criterion is met the patient is not diagnosed as having Turner syndrome.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; In Turner syndrome the second sex chromosome is either:&lt;br /&gt;
&lt;br /&gt;
*Completely absent (45,X)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Partially absent&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Forms an isochromosome (isoXq), possessing a long arm duplication (q) and being devoid of a short arm (p)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*In a ring formation (rX)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Is devoid of the homeobox gene, [[#Glossary | '''SHOX''']] (short stature homeobox), the deletion being prior to the junction between Xp22.2 and Xp22.3&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
Any of these variations of the second sex chromosome may occur with or without cell line [[#Glossary | '''mosaicism''']].&lt;br /&gt;
Turner syndrome may be diagnosed prenatally or postnatally, using this genetic diagnostic definition coupled with an appropriate phenotypic evaluation of the individual, as outlined below.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Prenatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
The prenatal diagnostic tool for Turner syndrome is karyotype screening and testing for phenotype abnormalities. If Turner syndrome is diagnosed prenatally, karyotype screening and an evaluation of the individual's traits should be conducted again postnatally for confirmation of this diagnosis. Turner syndrome is frequently diagnosed after karyotype screening during [[#Glossary | '''chorionic villous sampling''']] or [[#Glossary | '''amniocentesis''']].&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
The table below outlines various prenatal tests conducted and the indications that may be present in babies with Turner syndrome. Although these techniques and the indications they reveal may highlight Turner syndrome signs, they should not be used as sole diagnostic tools.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Technique'''&lt;br /&gt;
| '''Turner syndrome indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Ultrasound'''&lt;br /&gt;
|&lt;br /&gt;
*Increased nuchal translucency &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Cystic hygroma''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Coarctation''']] of the aorta &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Left-sided cardiac defects &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Brachycephaly''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Renal anomalies &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Polyhydramnios''']] &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Oligohydramnios''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Growth retardation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;10599686&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Turner Syndrome Test Showing Nuchal Translucency.gif|none|thumb|400px|Figure 2: Ultrasound Test Showing Nuchal Translucency.]]&lt;br /&gt;
[[File:Turner Syndrome Test Showing Cystic Hygroma.gif|none|thumb|400px|Figure 3: Ultrasound Test Showing Cystic Hygroma.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Maternal serum screening'''&lt;br /&gt;
|&lt;br /&gt;
*Abnormal [[#Glossary | '''α-fetoprotein''']] levels &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary | '''inhibin A''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary | '''hCG''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal unconjugated [[#Glossary | '''estriol''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
|[[File: TurnerSyndromeMaternalSerumSampling.jpg|none|thumb|400px|Figure 4: Maternal Serum Sampling.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
===Postnatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
In postnatal diagnosis, [[#Glossary | '''karyotype''']] investigation is undertaken for the individual. When a female presents with the following clinical findings, explained in table below, it is recommended that chromosomal analysis is undertaken, so that Turner syndrome may be eliminated&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;:&lt;br /&gt;
{|sstyle= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Age'''&lt;br /&gt;
| '''Phenotypic manifestations/indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Baby/infant'''&lt;br /&gt;
|&lt;br /&gt;
*Oedema of the hands or feet&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Nuchal folds &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Cardiac abnormalities for example aortic dilation, bicuspid aortic valve and aortic coarctation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Low hairline &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Low set ears &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Small mandible &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Gonadal dysgenesis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Child'''&lt;br /&gt;
| &lt;br /&gt;
*Short stature with low growth velocity &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Cubitus valgus''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Nail [[#Glossary | '''hypoplasia''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Hyperconvex uplifted nails &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Multiple pigmented benign birthmarks/moles &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Characteristic faecies &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Short fourth metacarpal &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*High arched palate &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Extensive and chronic inflammation/infection of the ear &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Hearing loss &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 4 year old child.jpg|left|thumb|150px|Figure 5: Four-year-old girl with Turner's syndrome. Note somewhat broad chest, prominent ears and ptosis, but otherwise normal proportion. There is no pronounced neck webbing or edema.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Adolescent/Adult'''&lt;br /&gt;
|&lt;br /&gt;
*Absence of breast development by 13 yr of age &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Pubertal arrest &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Primary or secondary amenorrhoea&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Unexplained short stature &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Renal abnormalities &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Immune disorders &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 35 year old woman.jpg|none|thumb|150px|Figure 6: A Thirtyfive-year-old woman with Turner's syndrome. Note increased carrying angle of arms, broad flat chest and sexual infantilism, but the lack of pronounced neck webbing or peripheral edema.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Since an absence of the physical signs of puberty and/or growth failure are often seen as normal variations in the population, these possible indications/symptoms of Turner syndrome may not be further investigated by many clinicians.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20361125&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; When karyotyping in order to exclude natural cell variation, a sufficient number of cells should be assessed. Whilst a sample of blood will often reveal Turner syndrome, an evaluation of a second tissue sample like the skin is recommend.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
[[#Glossary | '''DNA hybridisation''']] or [[#Glossary | '''fluorescent in situ hybridisation''']] should be conducted using a Y centromeric or short arm probe to detect for any additional Y or X chromosomal material.&lt;br /&gt;
If there is any of the Y chromosome present, this may initiate [[#Glossary | '''gonadoblastoma''']] development, another primary indicator of Turner syndrome. Hence the individual should have both a vaginal [[#Glossary | '''ultrasonograph''']] and colour [[#Glossary | '''Doppler sonograph''']] of their gonads to detect whether any Y chromosome fragments are present. These tests should be repeated regularly to monitor the patient for any malignancy, if a gonadectomy is not undertaken.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== Treatment ==&lt;br /&gt;
&lt;br /&gt;
=== Cardiac Treatment ===&lt;br /&gt;
&lt;br /&gt;
When patients are confirmed with Turner Syndrome, it is necessary to have a full cardiac evaulation including a physical exam and a echocardiogram. If cardiac abnormalities are found, monitoring by a cardiologist is recommended including regular blood pressure checks&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  Coarctation of the aorta and hypoplastic left heart are quite often very serious issues are need to be dealt with surgically&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
If no abnormalities are found, blood pressure in Turner Syndrome patients is still routinely checked and a follow up cardiac evaulation is recommended for girls around the age of puberty (12-15)&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Speech ===&lt;br /&gt;
&lt;br /&gt;
Many Turner Syndrome patients have trouble with their speech. It is necessary for them to be refered to an Ear, Nose and Throat specialist and to a speech therapist to work on improve any speech problems&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Management of Puberty and Growth ===&lt;br /&gt;
The main treatment for growth and pubertal development is Hormone Replacement Therapy. Growth Hormone is adminstered to girls with abnormal growth, resulting in postive growth that is consistent with the expected height of the patient. It is adminstered as early as 2 years of age, but more often in the age group of 9-12 which is in line with the growth spurt that occurs during puberty&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Natural estrogen and progesterone are administered to girls when they reach the age of puberty in early adolescence. The age at which this treatment commences varies between individuals, as does the dosage. The adminsteration of estrogen will begin the process of puberty in girls affected by Turner Syndrome and it is important that this begins around the same time as her peers&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. The use of estrogen is often held off if the patient is also undergoing GH treatment so that maximum growth can be achieved, as estrogen will induce the fusion of the epiphyses and limit longitudinal bone growth&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Around 10% of nonmosaic and 20% of mosaic women with Turner’s will have spontaneous menses (periods) and may not need to undergo Hormone Replacement to initiate puberty. Around 2-5% of these women will have the potential to fall pregnant naturally&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
=== Appearance ===&lt;br /&gt;
&lt;br /&gt;
Extreme neck webbing maybe worrying or uncomfortable to women with Turner’s and in some cases plastic surgery is undertaken to fix this problem. Also if convex gorwth of toenails occurs, surgery is conducted so that the woman can wear normal shoes&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Ongoing Adult Treatment ===&lt;br /&gt;
&lt;br /&gt;
Closely monitoring the health of Turner Syndrome adults is vital in the reduction of morbidity and mortality. An annual physical evalution should be undertaken which includes, blood pressure, heart auscultation, thyroid function, breast exam, and pap smear&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  &lt;br /&gt;
&lt;br /&gt;
Particular attention needs to be taken in the area of weight and obesity in Turner Syndrome women due to their high risk of developing diabetes, osteoporosis and hypertension. Patients are to be encouraged to have a healthy lifestyle including healthy eating and exercise&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Research ==&lt;br /&gt;
&lt;br /&gt;
===Current research===&lt;br /&gt;
&lt;br /&gt;
Since there is no preventative or cure, currently mainly research is being conducted into the areas of symptoms, possible treatments and risks involved with Turner syndrome.&lt;br /&gt;
&lt;br /&gt;
'''Growth hormone therapy in Turner syndrome: its affect on height, weight and stature.'''&lt;br /&gt;
*'''Growth hormone effect on body composition in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21720878&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research findings from this paper conclude that people with Turner syndrome have lower height, higher BMI and higher proportional sitting height and leg length than that of the normal population, no matter whether they undergo hormone replacement therapy or not.&lt;br /&gt;
*'''Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21619701&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study has concluded that all adults with Turner syndrome had a similar quality of life regardless of whether they have a higher stature due to undergoing growth hormone replacement therapy or not. It was hypothesised that height differences did not affect quality of life as the individuals seemed to adapt to their own life challenges.&lt;br /&gt;
*'''Growth hormone treatment for Turner syndrome in Australia reveals that younger age and increased dose interact to improve response.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21375553&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research from this study found that growth hormone therapy works most optimally if given earlier in life and at a high dose in the first year of treatment.&lt;br /&gt;
*'''Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21398400&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: Another study which confers that the early introduction of growth hormone therapy is most efficacious. However the individual's glucose metabolism should be monitored as the hormones may affect glucose tolerance transiently.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Oestrogen hormone replacement therapy in Turner syndrome: the adequate dosage and its effect on uterine development, breast development, bone mineral density and sexual characteristics.'''&lt;br /&gt;
*'''Growth hormone plus childhood low-dose estrogen in Turner's syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21449786&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study indicates that undergoing both growth hormone and oestrogen therapy together may help increase the efficacy of each (increasing growth in height and pubertal development) more than when they act alone. &lt;br /&gt;
*'''Estrogen requirements in girls with Turner syndrome; how low is enough for initiating puberty and uterine development?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21793702&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study assessed the minimal dosage of estrogen that is required to bring about desired pubertal development in girls with Turner syndrome.&lt;br /&gt;
*'''Puberty induction in Turner syndrome: results of oestrogen treatment on development of secondary sexual characteristics, uterine dimensions and serum hormone levels.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19200215&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: It was found that uterus of women with Turner syndrome who had undergone oestrogen was underdeveloped, however the exact cause of this needs to be further researched.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Pregnancy and Turner syndrome: evaluation and treatment of risks involved with pregnancy for: the mothers of Turner syndrome babies, for individuals with Turner syndrome and for the babies of individuals with Turner syndrome.'''&lt;br /&gt;
*'''Familial occurrence of Turner syndrome: casual event or increased risk?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21648298&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research examined whether there is a higher probability of having a second child with Turner syndrome and concluded that there is evidence in the small cohort that they used of a greater probability. It is suggested that a larger study be conducted to look further into these findings.that &lt;br /&gt;
*'''Obstetric Outcomes in Women with Turner Karyotype.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21865365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: In this study it was found that women with Turner syndrome had shorter pregnancies than that of a control group, but no other marked difference was observed between the groups.&lt;br /&gt;
*'''Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21496813&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This paper examined a number of pregnant women with Turner syndrome, some who incidentally went through puberty even though they had no hormone replacement therapy and another group that had undertaken hormone replacement therapy. Though there were not many complications in either group, the groups were small in number and one mother did have cardiovascular difficulties later on in life. Hence a thorough examination of pregnant Turner syndrome women should be conducted prior to conception.&lt;br /&gt;
*'''Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20923275&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This article assessed the prognosis of pregnant women with Turner syndrome. They concluded that spontaneous pregnancy increases the risk of the baby having phenotypic and chromosomal abnormalities compared with women having assisted reproductive therapies.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Future research=== &lt;br /&gt;
&lt;br /&gt;
Future research needs to be conducted in the following areas: to follow up on the suggestions given in the conclusions of current research papers as outlined in the prior section and also into how the care system is functioning for Turner syndrome individuals as outlined below.&lt;br /&gt;
&lt;br /&gt;
*'''Medical Care of Girls with Turner Syndrome: Where are we Lacking?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21454226&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research found that a large proportion (&amp;gt;50%) of people with Turner syndrome are not given adequate information upon diagnosis or screenings for complications and symptoms. Therefore it is suggested in order to rectify this issue that more education should be given to physicians on the syndrome&lt;br /&gt;
*'''Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21752892&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; and '''Turner's syndrome requires multidisciplinary approach.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19514616&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: These article evaluate the need for a multidisciplinary approach to treatment of Turner syndrome. Since the symptoms can be wide ranging and severe, it is difficult but necessary for all of them to be examined in each individual. Hence a greater care plan for individuals should be implemented upon diagnosis.&lt;br /&gt;
&lt;br /&gt;
== Glossary ==&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Alpha-fetoprotein''' is a protein with an unknown function. It makes up, up to one third of the protein serum levels found in the second trimester of pregnancy and in neural tube defects, these alpha-fetoprotein levels are elevated. &amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Amniocentesis''' is a prenatal diagnostic tool. The procedure involves the sampling of amniotic fluid from the amniotic sac using a syringe, that is then tested for a number of abnormalities. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Brachycephaly''' is a condition where the coronal suture of the skull fuses prematurely. Since the skull is unable to expand any further in the anterior-posterior directions due to this closure, it grows to an abnormal size in in the lateral dimension.&amp;lt;ref&amp;gt;Flint, P 2010, ''Flint: Cummings Otolaryngology: Head &amp;amp; Neck Surgery, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-323-05283-2..00186-5--s0045&amp;amp;isbn=978-0-323-05283-2&amp;amp;uniqId=282726024-5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Coarctation''' of the aorta is an abnormality where the aorta is constricted at one or various sections. This can be caused by genetic and/or environmental factors.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Chorionic villous sampling''' is a prenatal diagnostic tool which can be used from 7 weeks after fertilisation. It is used to test for a number of chromosomal abnormalities including X-linked and metabolic disorders.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Cystic hygroma''' is a prenatal abnormality where fluid builds up in the posterior portion of the neck. The body may or may not relieve itself naturally of this accumulation of fluid after birth. &amp;lt;ref&amp;gt;Gabbe, S 2007, ''Gabbe: Obstetrics: Normal and Problem Pregnancies, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-443-06930-7..50011-6--cesec51&amp;amp;isbn=978-0-443-06930-7&amp;amp;uniqId=282726024-10&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''DNA-DNA hybridisation''' is a technique used to compare the similarities and differences between two sets of genes.&amp;lt;ref&amp;gt;Long, S 2009, ''Bradley: Neurology in Clinical Practice, 5th ed.Long: Principles and Practice of Pediatric Infectious Diseases Revised Reprint, 3rd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X&amp;amp;isbn=978-0-7020-3468-8&amp;amp;uniqId=282726024-19#4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Doppler sonography''' uses the doppler effect to help image and measure blood flow pattern in the patient.&amp;lt;ref&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Estriol''' is a hormone that is produced in greater amounts during pregnancy especially in the second and third trimester. One of its main functions is to assist with blood flow in the placenta and uterus.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Gametes''' are reproductive (sex) cells (ie: eggs and sperm) that can unite to form a new cell called a zygote. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6&amp;amp;isbn=978-0-443-06811-9&amp;amp;uniqId=283289096-4#4-u1.0-B978-0-443-06811-9..10001-6--b0020&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Gonadoblastoma''' is an abnormal proliferation of gonadal cells, that may or may not be malignant.&amp;lt;ref&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Haploid''' is the status of a cell having only a single set of unpaired chromosomes, or half the number of chromosomes contained in typical body cells. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10019-3--sec5&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208594256&amp;amp;uniqId=283289096-7#4-u1.0-B978-0-443-06811-9..10019-3--sec5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''hCG''' is the abbreviation for human chorionic gonadotropin. It is a hormone that functions in the early stage of pregnancy to maintain the blood supply to the corpus luteum.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Homologous chromosomes''' are pairs of chromosomes, one each obtained from maternal and paternal gametes.  46 total chromosome complements are within an organism, 22 pairs of which are homologous chromosomes (called autosomes); the other 2 chromosomes are the sex chromosomes. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6--sec7&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208599219&amp;amp;uniqId=283289096-10#4-u1.0-B978-0-443-06811-9..10001-6--sec9&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
'''Hypoplasia''' is when an organ or tissue is not completely developed.&amp;lt;ref&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Inhibin A''' is a peptide produced by the ovaries and acts to restrain the production of follicle-stimulating hormone.&amp;lt;ref&amp;gt;Melmed, S 2011, ''Melmed: Williams Textbook of Endocrinology, 12th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0324-5..00045-6&amp;amp;isbn=978-1-4377-0324-5&amp;amp;uniqId=282726024-25 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Karyotype''' is an individual's set of chromosomes, both their number and appearance.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Meiosis''' is the specific process of cell division within sex cells which halves the number of chromosomes in the cells through via two cell divisions; this is specific to germ cells only, creating haploid gametes (sex cells) from diploid cells. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
'''Monosomy''' is a condition wherein a specific chromosome is completely missing within one gamete that combines with a normal gamete to form a zygote; a chromosome has no homologue, or matching chromosome, to pair with. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6--sec15&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208595822&amp;amp;uniqId=283289096-8#4-u1.0-B978-0-443-06811-9..10001-6--sec41&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Mosaicism''' is when a particular type or all cells of an individual do not have the same genetic makeup. This is caused by a mutation during embryonic cell division.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Nondisjunction''' is the failure of chromosome pairs to separate entirely during either stage of Meiosis. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec27&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--spara33&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Oligohydramnios''' is a prenatal condition, where there is an insufficient amount of amniotic fluid.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Polyhydramnios''' is a prenatal condition, where there is an excessive amount of amniotic fluid.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Random assortment'''&lt;br /&gt;
&lt;br /&gt;
'''Recombination''' is the process which by genetic material is crossed over and switched between two segments of DNA which adds to the genetic diversity of the genome.&lt;br /&gt;
&lt;br /&gt;
'''SHOX gene''' is the short stature homeobox gene, that when deficient frequently results in short stature.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Sister chromatids'''&lt;br /&gt;
&lt;br /&gt;
'''Ultrasonography''' is a medical technique that employs ultrasound frequencies to visualise a patient's internal bodily structure.&amp;lt;ref&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== References ==&lt;br /&gt;
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		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=73756</id>
		<title>2011 Group Project 1</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=73756"/>
		<updated>2011-09-30T10:19:42Z</updated>

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== Turner Syndrome ==&lt;br /&gt;
&lt;br /&gt;
--[[User:S8600021|Mark Hill]] 10:44, 8 September 2011 (EST) Some of the existing sub-sections have appropriate content, but there are also empty sub-sections, a total lack of referencing/citation and no glossary. &lt;br /&gt;
* The referencing issue needs urgent  progress.&lt;br /&gt;
* Existing figures/table are appropriate. Table appears to be directly used from an uncited source.&lt;br /&gt;
* There needs to be more images in this work.&lt;br /&gt;
* Where is the student drawn figure?&lt;br /&gt;
* Read http://embryology.med.unsw.edu.au/embryology/index.php?title=Help:Reference_Tutorial#Multiple%20Instances%20on%20Page&lt;br /&gt;
&lt;br /&gt;
== Introduction ==&lt;br /&gt;
&lt;br /&gt;
Turner syndrome, named after Henry Hubert Turner who first described the syndrome in his paper in 1938,&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;4557013&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; is one of the most commonly occuring chromosomal disorders. It is caused by complete or partial X monosomy in some or all cells and occurs in approximately 1 in 2000 live female births, however the morbidity rate of spontaneous abortions is 10% and only about 1% of fetuses survive to term. &lt;br /&gt;
&lt;br /&gt;
During normal fetal development, each ovary contain as many as 7 million oocytes. The oocytes gradually reduced to 400,000 during menarche and during menopause fewer than 10,000 remains. However, in Turner syndrome, the ovaries develop normally during embryogenesis but the absence of the second X chromosome leads to an accelerated loss of oocytes, which is complete by the time the infant, is aged 2. Genetically menopause occurs before menarche and the ovaries are reduced to atrophic fibrous strands, devoid of ova and follicles (streak ovaries). Development of somatic (nongonadal) tissues that reside on the missing/abnormal X chromosome are also severely affected. For example short stature is caused by a deletion of the Xp chromosome and the deletion of Xq causes gonadal dysfunction &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt; 6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
 &lt;br /&gt;
The most frequent clinical feature is short stature and gonadal dysgenesis. Other features may include coarctation of the aorta, renal anomalies, neck webbing, and lymphoedema. The affected organ systems and tissues may are effected to a lesser or greater extent amongst that are affected by turner syndrome. Each person who has turner syndrome all vary in their clinical phenotype. In recent years there has been increased interest in Turner Syndrome due to the introduction of growth hormone treatment. There has been marked improvement in the understanding of this condition as advances in molecular genetic techniques occur. However, there still further research to be completed. A multidisciplinary approach to treatment is important to improve the quality of life of girls with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
 &lt;br /&gt;
[[File:Karyotype.jpg|200px|thumb|left|The arrow indicates the presence of only one X chromosome in Karyotype]]&lt;br /&gt;
&lt;br /&gt;
== Epidemiology ==&lt;br /&gt;
&lt;br /&gt;
Turner Syndrome affects about 1 in 2000 live-born females. There are three types of karyotypic abnormalities but the most frequently seen is where the entire X chromosome is missing resulting in 45 X karyotype. The remaining third have structural abnormalities of the X chromosomes, and two thirds are mosaics. Whereby, the maternal X is retained in two-thirds of women and the paternal X in the remainder.&lt;br /&gt;
The phenotype of Turner Syndrome is varies but it involves anomalies of the sex chromosome. It could be caused by the limited amount of genetic material in these abnormal chromosomes. Turner Syndrome can be transmitted from mother to daughter, and thus can it could be described as a heredity linked syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The loss of one of the sex chromosomes of turner syndrome occurs after the zygote has formed or just after the fusion of the gametes. In 70-80% of cases the retained X is from the mother. In such circumstances has lead to the different phenotypic expression of the genes present on the X chromosome depending upon if it came from the mother or father. &lt;br /&gt;
The morphological differences from those retaining the maternal compared to retaining the paternal X is have shown to have a greater incidence of cardiovascular anomalies and neck webbing. &lt;br /&gt;
The missing sex chromosome could be either an X or a Y. This has clinical implications because if the Y material is present there is a risk of up to 30% of gonadoblastoma developing in the dysgenetic gonads. This is because the 'gonadoblastoma locus' is on the Y chromosome which is believed to be situated on the long arm of the Y just below the centromere.&lt;br /&gt;
Another factor affecting the phenotype in Turner syndrome is the inactivation of the abnormal X chromosomes. In a normal fetus there should be only one X chromosome that is active in each cell &amp;lt;ref&amp;gt;Wade, Nicholas (2009-09-15). '''&amp;quot;New Clues to Sex Anomalies in How Y Chromosomes Are Copied&amp;quot;'''. The New York Times. Retrieved 2010-05-26. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1511250/?page=2&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
[[File:Stats abnormal.jpg]]  &lt;br /&gt;
&lt;br /&gt;
Abnormalities associated with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Etiology ==&lt;br /&gt;
[[File:nondisjunction.jpg|850px|thumb|right|alt text|This figure shows the progeny created from normal disjunction (A), and non-disjunction during both Meiosis I (B) and Meiosis II (C).]]&lt;br /&gt;
&lt;br /&gt;
Causation of Turner Syndrome (TS) can be traced back to the stages of sex-cell development.  When sex cells divide through a process called [[#Glossary | '''meiosis''']] to create [[#Glossary | '''gametes''']], either a [[#Glossary | '''haploid''']] egg (for females) or sperm (for males) two divisions occur, Meiosis I and Meiosis II.  Meiosis is the main process which helps create the vast genetic diversity within all populations by allowing [[#Glossary | '''recombination''']] and [[#Glossary | '''random assortment''']].  During Meiosis I [[#Glossary | '''homologous chromosomes''']] are separated; following Meiosis I, [[#Glossary | '''sister chromatids''']] separate during Meiosis II.  If during either stage of Meiosis I or II the homologous chromosomes or sister chromatids, respectively, do not fully separate, a phenomenon can occur called [[#Glossary | '''nondisjunction''']].  Nondisjunction causes an uneven distribution of genetic material to each daughter nuclei.  When an uneven distribution is such that one of the gametes does not have any of a chromosome, it can combine with another normal gamete to create a fertilized egg with only one chromosome as opposed to the normal two that are found in human cells; this is called a [[#Glossary | '''monosomy''']].  When this occurs in the sex chromosomes leaving only a single X chromosome (X0 genotype) Turner Syndrome is created, leaving only 45 chromosomes in the zygote rather than the normal 46.  &lt;br /&gt;
&lt;br /&gt;
[[File:22+23=45.jpg|350px|thumb|left|22 chromosomal egg + 23 chromosomal sperm = 45 chromsomes in zygote instead of normal 46.]]&lt;br /&gt;
Turner Syndrome can also be created by partial monosomy or disjunctions, meaning that although a whole X chromosome is not missing, portions of it are not present or are non-functional, rendering the chromosome useless.  Any disjunction seems to be completely sporadic and have yet to be attributed to any genetic link. The only thing known for sure is that during conception a portion of or the whole second sex chromosome is not conveyed to the zygote.&amp;lt;ref&amp;gt;http://www.nytimes.com/2009/09/15/science/15chrom.html?pagewanted=1&amp;amp;_r=1&amp;amp;hpw&amp;lt;/ref&amp;gt; Because at least one X chromosome is necessary for vital functions, this condition can only be found in females.&lt;br /&gt;
&lt;br /&gt;
== Clinical Manifestations ==&lt;br /&gt;
&lt;br /&gt;
The following are a list of characteristics and diseases which tend to accompany, be caused by, or be related to Turner Syndrome.  &lt;br /&gt;
&lt;br /&gt;
===Physical Attributes:===&lt;br /&gt;
*congenital malformations (heart, urinary system, face, neck, ears) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*gonadal dysgenesis (causes estrogen deficiencies, which can cause infertility) &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*increased risk of fractures &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16624607&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low cortical bone mineral density (BMD) &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;/&amp;gt;&lt;br /&gt;
*middle ear infections &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*premature ovarian failure &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*short/reduced stature &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*webbed neck &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Decreased Cognition:===&lt;br /&gt;
*emotion processing difficulties &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC3114458&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*increased impulsivity &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2742423&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low IQ score &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2742423&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*nonverbal learning disability (slow math calculations) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC3114458&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*social cognition difficulties &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC3114458&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*visuoperception/visuoconstruction deficit (identifying and locating is difficult due to poor visual working memory) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2742423&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Increased Risk of:===&lt;br /&gt;
*cirrhosis of the liver &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*colon and rectal cancers &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*hypothyroidism &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*inflammatory bowel disease &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*morbidity and mortality &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*neurovascular disease &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*osteoporosis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*ovarian failure &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*renal and gastrointestinal disease &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Prone to Develop Autoimmune Conditions:=== &lt;br /&gt;
*alopecia areata &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coeliac disease (CD) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12466343&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*psoriasis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*thyroiditis &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*type 1 diabetes &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Cardiac Abnormalities:===&lt;br /&gt;
(most serious/life threatening medical problems created by Turner Syndrome)&lt;br /&gt;
*absence of portal vein &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16612647&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*aortic dilatation and dissection  &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*arrhythmias &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;17015510&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*arteriosclerosis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*biscuspid aortic valves &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coarctation of the aorta &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*hypertension &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*ischemic heart disease &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*mitral valve prolapsed &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== Diagnostic Procedures ==&lt;br /&gt;
&lt;br /&gt;
===Diagnostic Definition===&lt;br /&gt;
&lt;br /&gt;
[[File:Turner Syndrome X Chromosome Variations.jpg|thumb|right|Variations of the Second X Chromosome in Turner Syndrome]]&lt;br /&gt;
Turner syndrome is diagnosed through both an evaluation of physical features and by analysis of the second sex chromosome. The two criteria must be met for classification of Turner syndrome, an abnormality in the second sex chromosome must be found and the abnormality must be found to be expressed somehow in the individual's traits. Hence if physical characteristics are not present even when the cytogenetic criterion is met the patient is not diagnosed as having Turner syndrome.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; In Turner syndrome the second sex chromosome is either:&lt;br /&gt;
&lt;br /&gt;
*Completely absent (45,X)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Partially absent&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Forms an isochromosome (isoXq), possessing a long arm duplication (q) and being devoid of a short arm (p)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*In a ring formation (rX)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Is devoid of the homeobox gene, [[#Glossary | '''SHOX''']] (short stature homeobox), the deletion being prior to the junction between Xp22.2 and Xp22.3&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
Any of these variations of the second sex chromosome may occur with or without cell line [[#Glossary | '''mosaicism''']].&lt;br /&gt;
Turner syndrome may be diagnosed prenatally or postnatally, using this genetic diagnostic definition coupled with an appropriate phenotypic evaluation of the individual, as outlined below.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Prenatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
The prenatal diagnostic tool for Turner syndrome is karyotype screening and testing for phenotype abnormalities. If Turner syndrome is diagnosed prenatally, karyotype screening and an evaluation of the individual's traits should be conducted again postnatally for confirmation of this diagnosis. Turner syndrome is frequently diagnosed after karyotype screening during [[#Glossary | '''chorionic villous sampling''']] or [[#Glossary | '''amniocentesis''']].&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
The table below outlines various prenatal tests conducted and the indications that may be present in babies with Turner syndrome. Although these techniques and the indications they reveal may highlight Turner syndrome signs, they should not be used as sole diagnostic tools.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Technique'''&lt;br /&gt;
| '''Turner syndrome indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Ultrasound'''&lt;br /&gt;
|&lt;br /&gt;
*Increased nuchal translucency &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Cystic hygroma''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Coarctation''']] of the aorta &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Left-sided cardiac defects &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Brachycephaly''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Renal anomalies &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Polyhydramnios''']] &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Oligohydramnios''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Growth retardation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;10599686&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Turner Syndrome Test Showing Nuchal Translucency.gif|none|thumb|400px|Figure 2: Ultrasound Test Showing Nuchal Translucency.]]&lt;br /&gt;
[[File:Turner Syndrome Test Showing Cystic Hygroma.gif|none|thumb|400px|Figure 3: Ultrasound Test Showing Cystic Hygroma.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Maternal serum screening'''&lt;br /&gt;
|&lt;br /&gt;
*Abnormal [[#Glossary | '''α-fetoprotein''']] levels &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary | '''inhibin A''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary | '''hCG''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal unconjugated [[#Glossary | '''estriol''']] levels &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
|[[File: TurnerSyndromeMaternalSerumSampling.jpg|none|thumb|400px|Figure 4: Maternal Serum Sampling.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
===Postnatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
In postnatal diagnosis, [[#Glossary | '''karyotype''']] investigation is undertaken for the individual. When a female presents with the following clinical findings, explained in table below, it is recommended that chromosomal analysis is undertaken, so that Turner syndrome may be eliminated&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;:&lt;br /&gt;
{|sstyle= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Age'''&lt;br /&gt;
| '''Phenotypic manifestations/indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Baby/infant'''&lt;br /&gt;
|&lt;br /&gt;
*Oedema of the hands or feet&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Nuchal folds &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Cardiac abnormalities for example aortic dilation, bicuspid aortic valve and aortic coarctation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Low hairline &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Low set ears &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Small mandible &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Gonadal dysgenesis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Child'''&lt;br /&gt;
| &lt;br /&gt;
*Short stature with low growth velocity &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Cubitus valgus''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Nail [[#Glossary | '''hypoplasia''']] &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Hyperconvex uplifted nails &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Multiple pigmented benign birthmarks/moles &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Characteristic faecies &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Short fourth metacarpal &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*High arched palate &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Extensive and chronic inflammation/infection of the ear &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Hearing loss &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 4 year old child.jpg|left|thumb|150px|Figure 5: Four-year-old girl with Turner's syndrome. Note somewhat broad chest, prominent ears and ptosis, but otherwise normal proportion. There is no pronounced neck webbing or edema.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Adolescent/Adult'''&lt;br /&gt;
|&lt;br /&gt;
*Absence of breast development by 13 yr of age &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Pubertal arrest &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Primary or secondary amenorrhoea&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
*Unexplained short stature &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Renal abnormalities &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Immune disorders &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 35 year old woman.jpg|none|thumb|150px|Figure 6: A Thirtyfive-year-old woman with Turner's syndrome. Note increased carrying angle of arms, broad flat chest and sexual infantilism, but the lack of pronounced neck webbing or peripheral edema.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Since an absence of the physical signs of puberty and/or growth failure are often seen as normal variations in the population, these possible indications/symptoms of Turner syndrome may not be further investigated by many clinicians.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20361125&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; When karyotyping in order to exclude natural cell variation, a sufficient number of cells should be assessed. Whilst a sample of blood will often reveal Turner syndrome, an evaluation of a second tissue sample like the skin is recommend.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
[[#Glossary | '''DNA hybridisation''']] or [[#Glossary | '''fluorescent in situ hybridisation''']] should be conducted using a Y centromeric or short arm probe to detect for any additional Y or X chromosomal material.&lt;br /&gt;
If there is any of the Y chromosome present, this may initiate [[#Glossary | '''gonadoblastoma''']] development, another primary indicator of Turner syndrome. Hence the individual should have both a vaginal [[#Glossary | '''ultrasonograph''']] and colour [[#Glossary | '''Doppler sonograph''']] of their gonads to detect whether any Y chromosome fragments are present. These tests should be repeated regularly to monitor the patient for any malignancy, if a gonadectomy is not undertaken.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== Treatment ==&lt;br /&gt;
&lt;br /&gt;
=== Cardiac Treatment ===&lt;br /&gt;
&lt;br /&gt;
When patients are confirmed with Turner Syndrome, it is necessary to have a full cardiac evaulation including a physical exam and a echocardiogram. If cardiac abnormalities are found, monitoring by a cardiologist is recommended including regular blood pressure checks&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  Coarctation of the aorta and hypoplastic left heart are quite often very serious issues are need to be dealt with surgically&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
If no abnormalities are found, blood pressure in Turner Syndrome patients is still routinely checked and a follow up cardiac evaulation is recommended for girls around the age of puberty (12-15)&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Speech ===&lt;br /&gt;
&lt;br /&gt;
Many Turner Syndrome patients have trouble with their speech. It is necessary for them to be refered to an Ear, Nose and Throat specialist and to a speech therapist to work on improve any speech problems&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Management of Puberty and Growth ===&lt;br /&gt;
The main treatment for growth and pubertal development is Hormone Replacement Therapy. Growth Hormone is adminstered to girls with abnormal growth, resulting in postive growth that is consistent with the expected height of the patient. It is adminstered as early as 2 years of age, but more often in the age group of 9-12 which is in line with the growth spurt that occurs during puberty&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Natural estrogen and progesterone are administered to girls when they reach the age of puberty in early adolescence. The age at which this treatment commences varies between individuals, as does the dosage. The adminsteration of estrogen will begin the process of puberty in girls affected by Turner Syndrome and it is important that this begins around the same time as her peers&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. The use of estrogen is often held off if the patient is also undergoing GH treatment so that maximum growth can be achieved, as estrogen will induce the fusion of the epiphyses and limit longitudinal bone growth&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Around 10% of nonmosaic and 20% of mosaic women with Turner’s will have spontaneous menses (periods) and may not need to undergo Hormone Replacement to initiate puberty. Around 2-5% of these women will have the potential to fall pregnant naturally&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
=== Appearance ===&lt;br /&gt;
&lt;br /&gt;
Extreme neck webbing maybe worrying or uncomfortable to women with Turner’s and in some cases plastic surgery is undertaken to fix this problem. Also if convex gorwth of toenails occurs, surgery is conducted so that the woman can wear normal shoes&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Ongoing Adult Treatment ===&lt;br /&gt;
&lt;br /&gt;
Closely monitoring the health of Turner Syndrome adults is vital in the reduction of morbidity and mortality. An annual physical evalution should be undertaken which includes, blood pressure, heart auscultation, thyroid function, breast exam, and pap smear&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.  &lt;br /&gt;
&lt;br /&gt;
Particular attention needs to be taken in the area of weight and obesity in Turner Syndrome women due to their high risk of developing diabetes, osteoporosis and hypertension. Patients are to be encouraged to have a healthy lifestyle including healthy eating and exercise&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Research ==&lt;br /&gt;
&lt;br /&gt;
===Current research===&lt;br /&gt;
&lt;br /&gt;
Since there is no preventative or cure, currently mainly research is being conducted into the areas of symptoms, possible treatments and risks involved with Turner syndrome.&lt;br /&gt;
&lt;br /&gt;
'''Growth hormone therapy in Turner syndrome: its affect on height, weight and stature.'''&lt;br /&gt;
*'''Growth hormone effect on body composition in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21720878&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research findings from this paper conclude that people with Turner syndrome have lower height, higher BMI and higher proportional sitting height and leg length than that of the normal population, no matter whether they undergo hormone replacement therapy or not.&lt;br /&gt;
*'''Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21619701&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study has concluded that all adults with Turner syndrome had a similar quality of life regardless of whether they have a higher stature due to undergoing growth hormone replacement therapy or not. It was hypothesised that height differences did not affect quality of life as the individuals seemed to adapt to their own life challenges.&lt;br /&gt;
*'''Growth hormone treatment for Turner syndrome in Australia reveals that younger age and increased dose interact to improve response.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21375553&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research from this study found that growth hormone therapy works most optimally if given earlier in life and at a high dose in the first year of treatment.&lt;br /&gt;
*'''Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21398400&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: Another study which confers that the early introduction of growth hormone therapy is most efficacious. However the individual's glucose metabolism should be monitored as the hormones may affect glucose tolerance transiently.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Oestrogen hormone replacement therapy in Turner syndrome: the adequate dosage and its effect on uterine development, breast development, bone mineral density and sexual characteristics.'''&lt;br /&gt;
*'''Growth hormone plus childhood low-dose estrogen in Turner's syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21449786&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study indicates that undergoing both growth hormone and oestrogen therapy together may help increase the efficacy of each (increasing growth in height and pubertal development) more than when they act alone. &lt;br /&gt;
*'''Estrogen requirements in girls with Turner syndrome; how low is enough for initiating puberty and uterine development?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21793702&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study assessed the minimal dosage of estrogen that is required to bring about desired pubertal development in girls with Turner syndrome.&lt;br /&gt;
*'''Puberty induction in Turner syndrome: results of oestrogen treatment on development of secondary sexual characteristics, uterine dimensions and serum hormone levels.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19200215&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: It was found that uterus of women with Turner syndrome who had undergone oestrogen was underdeveloped, however the exact cause of this needs to be further researched.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Pregnancy and Turner syndrome: evaluation and treatment of risks involved with pregnancy for: the mothers of Turner syndrome babies, for individuals with Turner syndrome and for the babies of individuals with Turner syndrome.'''&lt;br /&gt;
*'''Familial occurrence of Turner syndrome: casual event or increased risk?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21648298&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research examined whether there is a higher probability of having a second child with Turner syndrome and concluded that there is evidence in the small cohort that they used of a greater probability. It is suggested that a larger study be conducted to look further into these findings.that &lt;br /&gt;
*'''Obstetric Outcomes in Women with Turner Karyotype.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21865365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: In this study it was found that women with Turner syndrome had shorter pregnancies than that of a control group, but no other marked difference was observed between the groups.&lt;br /&gt;
*'''Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21496813&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This paper examined a number of pregnant women with Turner syndrome, some who incidentally went through puberty even though they had no hormone replacement therapy and another group that had undertaken hormone replacement therapy. Though there were not many complications in either group, the groups were small in number and one mother did have cardiovascular difficulties later on in life. Hence a thorough examination of pregnant Turner syndrome women should be conducted prior to conception.&lt;br /&gt;
*'''Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20923275&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This article assessed the prognosis of pregnant women with Turner syndrome. They concluded that spontaneous pregnancy increases the risk of the baby having phenotypic and chromosomal abnormalities compared with women having assisted reproductive therapies.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Future research=== &lt;br /&gt;
&lt;br /&gt;
Future research needs to be conducted in the following areas: to follow up on the suggestions given in the conclusions of current research papers as outlined in the prior section and also into how the care system is functioning for Turner syndrome individuals as outlined below.&lt;br /&gt;
&lt;br /&gt;
*'''Medical Care of Girls with Turner Syndrome: Where are we Lacking?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21454226&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research found that a large proportion (&amp;gt;50%) of people with Turner syndrome are not given adequate information upon diagnosis or screenings for complications and symptoms. Therefore it is suggested in order to rectify this issue that more education should be given to physicians on the syndrome&lt;br /&gt;
*'''Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21752892&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; and '''Turner's syndrome requires multidisciplinary approach.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19514616&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: These article evaluate the need for a multidisciplinary approach to treatment of Turner syndrome. Since the symptoms can be wide ranging and severe, it is difficult but necessary for all of them to be examined in each individual. Hence a greater care plan for individuals should be implemented upon diagnosis.&lt;br /&gt;
&lt;br /&gt;
== Glossary ==&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Alpha-fetoprotein''' is a protein with an unknown function. It makes up, up to one third of the protein serum levels found in the second trimester of pregnancy and in neural tube defects, these alpha-fetoprotein levels are elevated. &amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Amniocentesis''' is a prenatal diagnostic tool. The procedure involves the sampling of amniotic fluid from the amniotic sac using a syringe, that is then tested for a number of abnormalities. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Brachycephaly''' is a condition where the coronal suture of the skull fuses prematurely. Since the skull is unable to expand any further in the anterior-posterior directions due to this closure, it grows to an abnormal size in in the lateral dimension.&amp;lt;ref&amp;gt;Flint, P 2010, ''Flint: Cummings Otolaryngology: Head &amp;amp; Neck Surgery, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-323-05283-2..00186-5--s0045&amp;amp;isbn=978-0-323-05283-2&amp;amp;uniqId=282726024-5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Coarctation''' of the aorta is an abnormality where the aorta is constricted at one or various sections. This can be caused by genetic and/or environmental factors.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Chorionic villous sampling''' is a prenatal diagnostic tool which can be used from 7 weeks after fertilisation. It is used to test for a number of chromosomal abnormalities including X-linked and metabolic disorders.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Cystic hygroma''' is a prenatal abnormality where fluid builds up in the posterior portion of the neck. The body may or may not relieve itself naturally of this accumulation of fluid after birth. &amp;lt;ref&amp;gt;Gabbe, S 2007, ''Gabbe: Obstetrics: Normal and Problem Pregnancies, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-443-06930-7..50011-6--cesec51&amp;amp;isbn=978-0-443-06930-7&amp;amp;uniqId=282726024-10&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''DNA-DNA hybridisation''' is a technique used to compare the similarities and differences between two sets of genes.&amp;lt;ref&amp;gt;Long, S 2009, ''Bradley: Neurology in Clinical Practice, 5th ed.Long: Principles and Practice of Pediatric Infectious Diseases Revised Reprint, 3rd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X&amp;amp;isbn=978-0-7020-3468-8&amp;amp;uniqId=282726024-19#4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Doppler sonography''' uses the doppler effect to help image and measure blood flow pattern in the patient.&amp;lt;ref&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Estriol''' is a hormone that is produced in greater amounts during pregnancy especially in the second and third trimester. One of its main functions is to assist with blood flow in the placenta and uterus.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Gametes''' are reproductive (sex) cells (ie: eggs and sperm) that can unite to form a new cell called a zygote. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6&amp;amp;isbn=978-0-443-06811-9&amp;amp;uniqId=283289096-4#4-u1.0-B978-0-443-06811-9..10001-6--b0020&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Gonadoblastoma''' is an abnormal proliferation of gonadal cells, that may or may not be malignant.&amp;lt;ref&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Haploid''' is the status of a cell having only a single set of unpaired chromosomes, or half the number of chromosomes contained in typical body cells. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10019-3--sec5&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208594256&amp;amp;uniqId=283289096-7#4-u1.0-B978-0-443-06811-9..10019-3--sec5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''hCG''' is the abbreviation for human chorionic gonadotropin. It is a hormone that functions in the early stage of pregnancy to maintain the blood supply to the corpus luteum.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Homologous chromosomes''' are pairs of chromosomes, one each obtained from maternal and paternal gametes.  46 total chromosome complements are within an organism, 22 pairs of which are homologous chromosomes (called autosomes); the other 2 chromosomes are the sex chromosomes. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6--sec7&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208599219&amp;amp;uniqId=283289096-10#4-u1.0-B978-0-443-06811-9..10001-6--sec9&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
'''Hypoplasia''' is when an organ or tissue is not completely developed.&amp;lt;ref&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
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'''Inhibin A''' is a peptide produced by the ovaries and acts to restrain the production of follicle-stimulating hormone.&amp;lt;ref&amp;gt;Melmed, S 2011, ''Melmed: Williams Textbook of Endocrinology, 12th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0324-5..00045-6&amp;amp;isbn=978-1-4377-0324-5&amp;amp;uniqId=282726024-25 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Karyotype''' is an individual's set of chromosomes, both their number and appearance.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Meiosis''' is the specific process of cell division within sex cells which halves the number of chromosomes in the cells through via two cell divisions; this is specific to germ cells only, creating haploid gametes (sex cells) from diploid cells. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
'''Monosomy''' is a condition wherein a specific chromosome is completely missing within one gamete that combines with a normal gamete to form a zygote; a chromosome has no homologue, or matching chromosome, to pair with. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6--sec15&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208595822&amp;amp;uniqId=283289096-8#4-u1.0-B978-0-443-06811-9..10001-6--sec41&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Mosaicism''' is when a particular type or all cells of an individual do not have the same genetic makeup. This is caused by a mutation during embryonic cell division.&amp;lt;ref name=&amp;quot;PMID11443168&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Nondisjunction''' is the failure of chromosome pairs to separate entirely during either stage of Meiosis. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec27&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--spara33&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Oligohydramnios''' is a prenatal condition, where there is an insufficient amount of amniotic fluid.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
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'''Polyhydramnios''' is a prenatal condition, where there is an excessive amount of amniotic fluid.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Random assortment'''&lt;br /&gt;
&lt;br /&gt;
'''Recombination''' is the process which by genetic material is crossed over and switched between two segments of DNA which adds to the genetic diversity of the genome.&lt;br /&gt;
&lt;br /&gt;
'''SHOX gene''' is the short stature homeobox gene, that when deficient frequently results in short stature.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Sister chromatids'''&lt;br /&gt;
&lt;br /&gt;
'''Ultrasonography''' is a medical technique that employs ultrasound frequencies to visualise a patient's internal bodily structure.&amp;lt;ref&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== References ==&lt;br /&gt;
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&amp;lt;references/&amp;gt;&lt;br /&gt;
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{{2011Projects}}&lt;/div&gt;</summary>
		<author><name>Z3217043</name></author>
	</entry>
	<entry>
		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=73754</id>
		<title>2011 Group Project 1</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=73754"/>
		<updated>2011-09-30T10:09:35Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: &lt;/p&gt;
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&lt;div&gt;{{2011ProjectsMH}}&lt;br /&gt;
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== Turner Syndrome ==&lt;br /&gt;
&lt;br /&gt;
--[[User:S8600021|Mark Hill]] 10:44, 8 September 2011 (EST) Some of the existing sub-sections have appropriate content, but there are also empty sub-sections, a total lack of referencing/citation and no glossary. &lt;br /&gt;
* The referencing issue needs urgent  progress.&lt;br /&gt;
* Existing figures/table are appropriate. Table appears to be directly used from an uncited source.&lt;br /&gt;
* There needs to be more images in this work.&lt;br /&gt;
* Where is the student drawn figure?&lt;br /&gt;
* Read http://embryology.med.unsw.edu.au/embryology/index.php?title=Help:Reference_Tutorial#Multiple%20Instances%20on%20Page&lt;br /&gt;
&lt;br /&gt;
== Introduction ==&lt;br /&gt;
&lt;br /&gt;
Turner syndrome, named after Henry Hubert Turner who first described the syndrome in his paper in 1938,&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;4557013&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; is one of the most commonly occuring chromosomal disorders. It is caused by complete or partial X monosomy in some or all cells and occurs in approximately 1 in 2000 live female births, however the morbidity rate of spontaneous abortions is 10% and only about 1% of fetuses survive to term. &lt;br /&gt;
&lt;br /&gt;
During normal fetal development, each ovary contain as many as 7 million oocytes. The oocytes gradually reduced to 400,000 during menarche and during menopause fewer than 10,000 remains. However, in Turner syndrome, the ovaries develop normally during embryogenesis but the absence of the second X chromosome leads to an accelerated loss of oocytes, which is complete by the time the infant, is aged 2. Genetically menopause occurs before menarche and the ovaries are reduced to atrophic fibrous strands, devoid of ova and follicles (streak ovaries). Development of somatic (nongonadal) tissues that reside on the missing/abnormal X chromosome are also severely affected. For example short stature is caused by a deletion of the Xp chromosome and the deletion of Xq causes gonadal dysfunction &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt; 6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
 &lt;br /&gt;
The most frequent clinical feature is short stature and gonadal dysgenesis. Other features may include coarctation of the aorta, renal anomalies, neck webbing, and lymphoedema. The affected organ systems and tissues may are effected to a lesser or greater extent amongst that are affected by turner syndrome. Each person who has turner syndrome all vary in their clinical phenotype. In recent years there has been increased interest in Turner Syndrome due to the introduction of growth hormone treatment. There has been marked improvement in the understanding of this condition as advances in molecular genetic techniques occur. However, there still further research to be completed. A multidisciplinary approach to treatment is important to improve the quality of life of girls with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
 &lt;br /&gt;
[[File:Karyotype.jpg|200px|thumb|left|The arrow indicates the presence of only one X chromosome in Karyotype]]&lt;br /&gt;
&lt;br /&gt;
== Epidemiology ==&lt;br /&gt;
&lt;br /&gt;
Turner Syndrome affects about 1 in 2000 live-born females. There are three types of karyotypic abnormalities but the most frequently seen is where the entire X chromosome is missing resulting in 45 X karyotype. The remaining third have structural abnormalities of the X chromosomes, and two thirds are mosaics. Whereby, the maternal X is retained in two-thirds of women and the paternal X in the remainder.&lt;br /&gt;
The phenotype of Turner Syndrome is varies but it involves anomalies of the sex chromosome. It could be caused by the limited amount of genetic material in these abnormal chromosomes. Turner Syndrome can be transmitted from mother to daughter, and thus can it could be described as a heredity linked syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The loss of one of the sex chromosomes of turner syndrome occurs after the zygote has formed or just after the fusion of the gametes. In 70-80% of cases the retained X is from the mother. In such circumstances has lead to the different phenotypic expression of the genes present on the X chromosome depending upon if it came from the mother or father. &lt;br /&gt;
The morphological differences from those retaining the maternal compared to retaining the paternal X is have shown to have a greater incidence of cardiovascular anomalies and neck webbing. &lt;br /&gt;
The missing sex chromosome could be either an X or a Y. This has clinical implications because if the Y material is present there is a risk of up to 30% of gonadoblastoma developing in the dysgenetic gonads. This is because the 'gonadoblastoma locus' is on the Y chromosome which is believed to be situated on the long arm of the Y just below the centromere.&lt;br /&gt;
Another factor affecting the phenotype in Turner syndrome is the inactivation of the abnormal X chromosomes. In a normal fetus there should be only one X chromosome that is active in each cell &amp;lt;ref&amp;gt;Wade, Nicholas (2009-09-15). '''&amp;quot;New Clues to Sex Anomalies in How Y Chromosomes Are Copied&amp;quot;'''. The New York Times. Retrieved 2010-05-26. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1511250/?page=2&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
[[File:Stats abnormal.jpg]]  &lt;br /&gt;
&lt;br /&gt;
Abnormalities associated with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Etiology ==&lt;br /&gt;
[[File:nondisjunction.jpg|850px|thumb|right|alt text|This figure shows the progeny created from normal disjunction (A), and non-disjunction during both Meiosis I (B) and Meiosis II (C).]]&lt;br /&gt;
&lt;br /&gt;
Causation of Turner Syndrome (TS) can be traced back to the stages of sex-cell development.  When sex cells divide through a process called [[#Glossary | '''meiosis''']] to create [[#Glossary | '''gametes''']], either a [[#Glossary | '''haploid''']] egg (for females) or sperm (for males) two divisions occur, Meiosis I and Meiosis II.  Meiosis is the main process which helps create the vast genetic diversity within all populations by allowing [[#Glossary | '''recombination''']] and [[#Glossary | '''random assortment''']].  During Meiosis I [[#Glossary | '''homologous chromosomes''']] are separated; following Meiosis I, [[#Glossary | '''sister chromatids''']] separate during Meiosis II.  If during either stage of Meiosis I or II the homologous chromosomes or sister chromatids, respectively, do not fully separate, a phenomenon can occur called [[#Glossary | '''nondisjunction''']].  Nondisjunction causes an uneven distribution of genetic material to each daughter nuclei.  When an uneven distribution is such that one of the gametes does not have any of a chromosome, it can combine with another normal gamete to create a fertilized egg with only one chromosome as opposed to the normal two that are found in human cells; this is called a [[#Glossary | '''monosomy''']].  When this occurs in the sex chromosomes leaving only a single X chromosome (X0 genotype) Turner Syndrome is created, leaving only 45 chromosomes in the zygote rather than the normal 46.  &lt;br /&gt;
&lt;br /&gt;
[[File:22+23=45.jpg|350px|thumb|left|22 chromosomal egg + 23 chromosomal sperm = 45 chromsomes in zygote instead of normal 46.]]&lt;br /&gt;
Turner Syndrome can also be created by partial monosomy or disjunctions, meaning that although a whole X chromosome is not missing, portions of it are not present or are non-functional, rendering the chromosome useless.  Any disjunction seems to be completely sporadic and have yet to be attributed to any genetic link. The only thing known for sure is that during conception a portion of or the whole second sex chromosome is not conveyed to the zygote.&amp;lt;ref&amp;gt;http://www.nytimes.com/2009/09/15/science/15chrom.html?pagewanted=1&amp;amp;_r=1&amp;amp;hpw&amp;lt;/ref&amp;gt; Because at least one X chromosome is necessary for vital functions, this condition can only be found in females.&lt;br /&gt;
&lt;br /&gt;
== Clinical Manifestations ==&lt;br /&gt;
&lt;br /&gt;
The following are a list of characteristics and diseases which tend to accompany, be caused by, or be related to Turner Syndrome.  &lt;br /&gt;
&lt;br /&gt;
===Physical Attributes:===&lt;br /&gt;
*congenital malformations (heart, urinary system, face, neck, ears) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*gonadal dysgenesis (causes estrogen deficiencies, which can cause infertility) &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*increased risk of fractures &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16624607&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low cortical bone mineral density (BMD) &amp;lt;ref name=&amp;quot;PMID16624607&amp;quot;/&amp;gt;&lt;br /&gt;
*middle ear infections &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*premature ovarian failure &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*short/reduced stature &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*webbed neck &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Decreased Cognition:===&lt;br /&gt;
*emotion processing difficulties &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC3114458&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*increased impulsivity &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2742423&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low IQ score &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2742423&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*nonverbal learning disability (slow math calculations) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC3114458&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*social cognition difficulties &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC3114458&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*visuoperception/visuoconstruction deficit (identifying and locating is difficult due to poor visual working memory) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2742423&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Increased Risk of:===&lt;br /&gt;
*cirrhosis of the liver &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*colon and rectal cancers &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*hypothyroidism &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*inflammatory bowel disease &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*morbidity and mortality &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*neurovascular disease &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*osteoporosis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*ovarian failure &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*renal and gastrointestinal disease &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Prone to Develop Autoimmune Conditions:=== &lt;br /&gt;
*alopecia areata &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coeliac disease (CD) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12466343&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*psoriasis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*thyroiditis &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*type 1 diabetes &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Cardiac Abnormalities:===&lt;br /&gt;
(most serious/life threatening medical problems created by Turner Syndrome)&lt;br /&gt;
*absence of portal vein &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16612647&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*aortic dilatation and dissection  &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*arrhythmias &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;17015510&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*arteriosclerosis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*biscuspid aortic valves &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coarctation of the aorta &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*hypertension &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*ischemic heart disease &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*mitral valve prolapsed &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== Diagnostic Procedures ==&lt;br /&gt;
&lt;br /&gt;
===Diagnostic Definition===&lt;br /&gt;
&lt;br /&gt;
[[File:Turner Syndrome X Chromosome Variations.jpg|thumb|right|Variations of the Second X Chromosome in Turner Syndrome]]&lt;br /&gt;
Turner syndrome is diagnosed through both an evaluation of physical features and by analysis of the second sex chromosome. The two criteria must be met for classification of Turner syndrome, an abnormality in the second sex chromosome must be found and the abnormality must be found to be expressed somehow in the individual's traits. Hence if physical characteristics are not present even when the cytogenetic criterion is met the patient is not diagnosed as having Turner syndrome.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; In Turner syndrome the second sex chromosome is either:&lt;br /&gt;
&lt;br /&gt;
*Completely absent (45,X)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Partially absent&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Forms an isochromosome (isoXq), possessing a long arm duplication (q) and being devoid of a short arm (p)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*In a ring formation (rX)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Is devoid of the homeobox gene, [[#Glossary | '''SHOX''']] (short stature homeobox), the deletion being prior to the junction between Xp22.2 and Xp22.3&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
Any of these variations of the second sex chromosome may occur with or without cell line [[#Glossary | '''mosaicism''']].&lt;br /&gt;
Turner syndrome may be diagnosed prenatally or postnatally, using this genetic diagnostic definition coupled with an appropriate phenotypic evaluation of the individual, as outlined below.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Prenatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
The prenatal diagnostic tool for Turner syndrome is karyotype screening and testing for phenotype abnormalities. If Turner syndrome is diagnosed prenatally, karyotype screening and an evaluation of the individual's traits should be conducted again postnatally for confirmation of this diagnosis. Turner syndrome is frequently diagnosed after karyotype screening during [[#Glossary | '''chorionic villous sampling''']] or [[#Glossary | '''amniocentesis''']].&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
The table below outlines various prenatal tests conducted and the indications that may be present in babies with Turner syndrome. Although these techniques and the indications they reveal may highlight Turner syndrome signs, they should not be used as sole diagnostic tools.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Technique'''&lt;br /&gt;
| '''Turner syndrome indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Ultrasound'''&lt;br /&gt;
|&lt;br /&gt;
*Increased nuchal translucency &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Cystic hygroma''']] &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Coarctation''']] of the aorta &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Left-sided cardiac defects &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Brachycephaly''']] &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Renal anomalies &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Polyhydramnios''']] &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Oligohydramnios''']] &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Growth retardation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;10599686&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Turner Syndrome Test Showing Nuchal Translucency.gif|none|thumb|400px|Figure 2: Ultrasound Test Showing Nuchal Translucency.]]&lt;br /&gt;
[[File:Turner Syndrome Test Showing Cystic Hygroma.gif|none|thumb|400px|Figure 3: Ultrasound Test Showing Cystic Hygroma.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Maternal serum screening'''&lt;br /&gt;
|&lt;br /&gt;
*Abnormal [[#Glossary | '''α-fetoprotein''']] levels &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary | '''inhibin A''']] levels &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary | '''hCG''']] levels &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Abnormal unconjugated [[#Glossary | '''estriol''']] levels &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File: TurnerSyndromeMaternalSerumSampling.jpg|none|thumb|400px|Figure 4: Maternal Serum Sampling.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
===Postnatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
In postnatal diagnosis, [[#Glossary | '''karyotype''']] investigation is undertaken for the individual. When a female presents with the following clinical findings, explained in table below, it is recommended that chromosomal analysis is undertaken, so that Turner syndrome may be eliminated&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;:&lt;br /&gt;
{|sstyle= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Age'''&lt;br /&gt;
| '''Phenotypic manifestations/indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Baby/infant'''&lt;br /&gt;
|&lt;br /&gt;
*Oedema of the hands or feet&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Nuchal folds &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Cardiac abnormalities for example aortic dilation, bicuspid aortic valve and aortic coarctation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Low hairline &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Low set ears &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Small mandible &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Gonadal dysgenesis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Child'''&lt;br /&gt;
| &lt;br /&gt;
*Short stature with low growth velocity &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Cubitus valgus''']] &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Nail [[#Glossary | '''hypoplasia''']] &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Hyperconvex uplifted nails &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Multiple pigmented benign birthmarks/moles &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Characteristic faecies &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Short fourth metacarpal &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*High arched palate &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Extensive and chronic inflammation/infection of the ear &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Hearing loss &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 4 year old child.jpg|left|thumb|150px|Figure 5: Four-year-old girl with Turner's syndrome. Note somewhat broad chest, prominent ears and ptosis, but otherwise normal proportion. There is no pronounced neck webbing or edema.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Adolescent/Adult'''&lt;br /&gt;
|&lt;br /&gt;
*Absence of breast development by 13 yr of age &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Pubertal arrest &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Primary or secondary amenorrhoea&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Unexplained short stature &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Renal abnormalities &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Immune disorders &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 35 year old woman.jpg|none|thumb|150px|Figure 6: A Thirtyfive-year-old woman with Turner's syndrome. Note increased carrying angle of arms, broad flat chest and sexual infantilism, but the lack of pronounced neck webbing or peripheral edema.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Since an absence of the physical signs of puberty and/or growth failure are often seen as normal variations in the population, these possible indications/symptoms of Turner syndrome may not be further investigated by many clinicians.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20361125&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; When karyotyping in order to exclude natural cell variation, a sufficient number of cells should be assessed. Whilst a sample of blood will often reveal Turner syndrome, an evaluation of a second tissue sample like the skin is recommend.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
[[#Glossary | '''DNA hybridisation''']] or [[#Glossary | '''fluorescent in situ hybridisation''']] should be conducted using a Y centromeric or short arm probe to detect for any additional Y or X chromosomal material.&lt;br /&gt;
If there is any of the Y chromosome present, this may initiate [[#Glossary | '''gonadoblastoma''']] development, another primary indicator of Turner syndrome. Hence the individual should have both a vaginal [[#Glossary | '''ultrasonograph''']] and colour [[#Glossary | '''Doppler sonograph''']] of their gonads to detect whether any Y chromosome fragments are present. These tests should be repeated regularly to monitor the patient for any malignancy, if a gonadectomy is not undertaken.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== Treatment ==&lt;br /&gt;
&lt;br /&gt;
=== Cardiac Treatment ===&lt;br /&gt;
&lt;br /&gt;
When patients are confirmed with Turner Syndrome, it is necessary to have a full cardiac evaulation including a physical exam and a echocardiogram. If cardiac abnormalities are found, monitoring by a cardiologist is recommended including regular blood pressure checks&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.  Coarctation of the aorta and hypoplastic left heart are quite often very serious issues are need to be dealt with surgically&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
If no abnormalities are found, blood pressure in Turner Syndrome patients is still routinely checked and a follow up cardiac evaulation is recommended for girls around the age of puberty (12-15)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Speech ===&lt;br /&gt;
&lt;br /&gt;
Many Turner Syndrome patients have trouble with their speech. It is necessary for them to be refered to an Ear, Nose and Throat specialist and to a speech therapist to work on improve any speech problems&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Management of Puberty and Growth ===&lt;br /&gt;
The main treatment for growth and pubertal development is Hormone Replacement Therapy. Growth Hormone is adminstered to girls with abnormal growth, resulting in postive growth that is consistent with the expected height of the patient. It is adminstered as early as 2 years of age, but more often in the age group of 9-12 which is in line with the growth spurt that occurs during puberty&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Natural estrogen and progesterone are administered to girls when they reach the age of puberty in early adolescence. The age at which this treatment commences varies between individuals, as does the dosage. The adminsteration of estrogen will begin the process of puberty in girls affected by Turner Syndrome and it is important that this begins around the same time as her peers&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. The use of estrogen is often held off if the patient is also undergoing GH treatment so that maximum growth can be achieved, as estrogen will induce the fusion of the epiphyses and limit longitudinal bone growth&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Around 10% of nonmosaic and 20% of mosaic women with Turner’s will have spontaneous menses (periods) and may not need to undergo Hormone Replacement to initiate puberty. Around 2-5% of these women will have the potential to fall pregnant naturally&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
=== Appearance ===&lt;br /&gt;
&lt;br /&gt;
Extreme neck webbing maybe worrying or uncomfortable to women with Turner’s and in some cases plastic surgery is undertaken to fix this problem. Also if convex gorwth of toenails occurs, surgery is conducted so that the woman can wear normal shoes&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Ongoing Adult Treatment ===&lt;br /&gt;
&lt;br /&gt;
Closely monitoring the health of Turner Syndrome adults is vital in the reduction of morbidity and mortality. An annual physical evalution should be undertaken which includes, blood pressure, heart auscultation, thyroid function, breast exam, and pap smear&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.  &lt;br /&gt;
&lt;br /&gt;
Particular attention needs to be taken in the area of weight and obesity in Turner Syndrome women due to their high risk of developing diabetes, osteoporosis and hypertension. Patients are to be encouraged to have a healthy lifestyle including healthy eating and exercise&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Research ==&lt;br /&gt;
&lt;br /&gt;
===Current research===&lt;br /&gt;
&lt;br /&gt;
Since there is no preventative or cure, currently mainly research is being conducted into the areas of symptoms, possible treatments and risks involved with Turner syndrome.&lt;br /&gt;
&lt;br /&gt;
'''Growth hormone therapy in Turner syndrome: its affect on height, weight and stature.'''&lt;br /&gt;
*'''Growth hormone effect on body composition in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21720878&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research findings from this paper conclude that people with Turner syndrome have lower height, higher BMI and higher proportional sitting height and leg length than that of the normal population, no matter whether they undergo hormone replacement therapy or not.&lt;br /&gt;
*'''Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21619701&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study has concluded that all adults with Turner syndrome had a similar quality of life regardless of whether they have a higher stature due to undergoing growth hormone replacement therapy or not. It was hypothesised that height differences did not affect quality of life as the individuals seemed to adapt to their own life challenges.&lt;br /&gt;
*'''Growth hormone treatment for Turner syndrome in Australia reveals that younger age and increased dose interact to improve response.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21375553&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research from this study found that growth hormone therapy works most optimally if given earlier in life and at a high dose in the first year of treatment.&lt;br /&gt;
*'''Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21398400&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: Another study which confers that the early introduction of growth hormone therapy is most efficacious. However the individual's glucose metabolism should be monitored as the hormones may affect glucose tolerance transiently.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Oestrogen hormone replacement therapy in Turner syndrome: the adequate dosage and its effect on uterine development, breast development, bone mineral density and sexual characteristics.'''&lt;br /&gt;
*'''Growth hormone plus childhood low-dose estrogen in Turner's syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21449786&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study indicates that undergoing both growth hormone and oestrogen therapy together may help increase the efficacy of each (increasing growth in height and pubertal development) more than when they act alone. &lt;br /&gt;
*'''Estrogen requirements in girls with Turner syndrome; how low is enough for initiating puberty and uterine development?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21793702&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study assessed the minimal dosage of estrogen that is required to bring about desired pubertal development in girls with Turner syndrome.&lt;br /&gt;
*'''Puberty induction in Turner syndrome: results of oestrogen treatment on development of secondary sexual characteristics, uterine dimensions and serum hormone levels.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19200215&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: It was found that uterus of women with Turner syndrome who had undergone oestrogen was underdeveloped, however the exact cause of this needs to be further researched.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Pregnancy and Turner syndrome: evaluation and treatment of risks involved with pregnancy for: the mothers of Turner syndrome babies, for individuals with Turner syndrome and for the babies of individuals with Turner syndrome.'''&lt;br /&gt;
*'''Familial occurrence of Turner syndrome: casual event or increased risk?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21648298&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research examined whether there is a higher probability of having a second child with Turner syndrome and concluded that there is evidence in the small cohort that they used of a greater probability. It is suggested that a larger study be conducted to look further into these findings.that &lt;br /&gt;
*'''Obstetric Outcomes in Women with Turner Karyotype.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21865365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: In this study it was found that women with Turner syndrome had shorter pregnancies than that of a control group, but no other marked difference was observed between the groups.&lt;br /&gt;
*'''Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21496813&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This paper examined a number of pregnant women with Turner syndrome, some who incidentally went through puberty even though they had no hormone replacement therapy and another group that had undertaken hormone replacement therapy. Though there were not many complications in either group, the groups were small in number and one mother did have cardiovascular difficulties later on in life. Hence a thorough examination of pregnant Turner syndrome women should be conducted prior to conception.&lt;br /&gt;
*'''Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20923275&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This article assessed the prognosis of pregnant women with Turner syndrome. They concluded that spontaneous pregnancy increases the risk of the baby having phenotypic and chromosomal abnormalities compared with women having assisted reproductive therapies.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Future research=== &lt;br /&gt;
&lt;br /&gt;
Future research needs to be conducted in the following areas: to follow up on the suggestions given in the conclusions of current research papers as outlined in the prior section and also into how the care system is functioning for Turner syndrome individuals as outlined below.&lt;br /&gt;
&lt;br /&gt;
*'''Medical Care of Girls with Turner Syndrome: Where are we Lacking?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21454226&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research found that a large proportion (&amp;gt;50%) of people with Turner syndrome are not given adequate information upon diagnosis or screenings for complications and symptoms. Therefore it is suggested in order to rectify this issue that more education should be given to physicians on the syndrome&lt;br /&gt;
*'''Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21752892&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; and '''Turner's syndrome requires multidisciplinary approach.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19514616&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: These article evaluate the need for a multidisciplinary approach to treatment of Turner syndrome. Since the symptoms can be wide ranging and severe, it is difficult but necessary for all of them to be examined in each individual. Hence a greater care plan for individuals should be implemented upon diagnosis.&lt;br /&gt;
&lt;br /&gt;
== Glossary ==&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Alpha-fetoprotein''' is a protein with an unknown function. It makes up, up to one third of the protein serum levels found in the second trimester of pregnancy and in neural tube defects, these alpha-fetoprotein levels are elevated. &amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Amniocentesis''' is a prenatal diagnostic tool. The procedure involves the sampling of amniotic fluid from the amniotic sac using a syringe, that is then tested for a number of abnormalities. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Brachycephaly''' is a condition where the coronal suture of the skull fuses prematurely. Since the skull is unable to expand any further in the anterior-posterior directions due to this closure, it grows to an abnormal size in in the lateral dimension.&amp;lt;ref&amp;gt;Flint, P 2010, ''Flint: Cummings Otolaryngology: Head &amp;amp; Neck Surgery, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-323-05283-2..00186-5--s0045&amp;amp;isbn=978-0-323-05283-2&amp;amp;uniqId=282726024-5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Coarctation''' of the aorta is an abnormality where the aorta is constricted at one or various sections. This can be caused by genetic and/or environmental factors.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Chorionic villous sampling''' is a prenatal diagnostic tool which can be used from 7 weeks after fertilisation. It is used to test for a number of chromosomal abnormalities including X-linked and metabolic disorders.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Cystic hygroma''' is a prenatal abnormality where fluid builds up in the posterior portion of the neck. The body may or may not relieve itself naturally of this accumulation of fluid after birth. &amp;lt;ref&amp;gt;Gabbe, S 2007, ''Gabbe: Obstetrics: Normal and Problem Pregnancies, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-443-06930-7..50011-6--cesec51&amp;amp;isbn=978-0-443-06930-7&amp;amp;uniqId=282726024-10&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''DNA-DNA hybridisation''' is a technique used to compare the similarities and differences between two sets of genes.&amp;lt;ref&amp;gt;Long, S 2009, ''Bradley: Neurology in Clinical Practice, 5th ed.Long: Principles and Practice of Pediatric Infectious Diseases Revised Reprint, 3rd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X&amp;amp;isbn=978-0-7020-3468-8&amp;amp;uniqId=282726024-19#4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Doppler sonography''' uses the doppler effect to help image and measure blood flow pattern in the patient.&amp;lt;ref&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Estriol''' is a hormone that is produced in greater amounts during pregnancy especially in the second and third trimester. One of its main functions is to assist with blood flow in the placenta and uterus.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Gametes''' are reproductive (sex) cells (ie: eggs and sperm) that can unite to form a new cell called a zygote. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6&amp;amp;isbn=978-0-443-06811-9&amp;amp;uniqId=283289096-4#4-u1.0-B978-0-443-06811-9..10001-6--b0020&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Gonadoblastoma''' is an abnormal proliferation of gonadal cells, that may or may not be malignant.&amp;lt;ref&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Haploid''' is the status of a cell having only a single set of unpaired chromosomes, or half the number of chromosomes contained in typical body cells. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10019-3--sec5&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208594256&amp;amp;uniqId=283289096-7#4-u1.0-B978-0-443-06811-9..10019-3--sec5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''hCG''' is the abbreviation for human chorionic gonadotropin. It is a hormone that functions in the early stage of pregnancy to maintain the blood supply to the corpus luteum.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Homologous chromosomes''' are pairs of chromosomes, one each obtained from maternal and paternal gametes.  46 total chromosome complements are within an organism, 22 pairs of which are homologous chromosomes (called autosomes); the other 2 chromosomes are the sex chromosomes. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6--sec7&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208599219&amp;amp;uniqId=283289096-10#4-u1.0-B978-0-443-06811-9..10001-6--sec9&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
'''Hypoplasia''' is when an organ or tissue is not completely developed.&amp;lt;ref&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Inhibin A''' is a peptide produced by the ovaries and acts to restrain the production of follicle-stimulating hormone.&amp;lt;ref&amp;gt;Melmed, S 2011, ''Melmed: Williams Textbook of Endocrinology, 12th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0324-5..00045-6&amp;amp;isbn=978-1-4377-0324-5&amp;amp;uniqId=282726024-25 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Karyotype''' is an individual's set of chromosomes, both their number and appearance.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Meiosis''' is the specific process of cell division within sex cells which halves the number of chromosomes in the cells through via two cell divisions; this is specific to germ cells only, creating haploid gametes (sex cells) from diploid cells. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
'''Monosomy''' is a condition wherein a specific chromosome is completely missing within one gamete that combines with a normal gamete to form a zygote; a chromosome has no homologue, or matching chromosome, to pair with. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6--sec15&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208595822&amp;amp;uniqId=283289096-8#4-u1.0-B978-0-443-06811-9..10001-6--sec41&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Mosaicism''' is when a particular type or all cells of an individual do not have the same genetic makeup. This is caused by a mutation during embryonic cell division.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Nondisjunction''' is the failure of chromosome pairs to separate entirely during either stage of Meiosis. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec27&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--spara33&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Oligohydramnios''' is a prenatal condition, where there is an insufficient amount of amniotic fluid.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Polyhydramnios''' is a prenatal condition, where there is an excessive amount of amniotic fluid.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Random assortment'''&lt;br /&gt;
&lt;br /&gt;
'''Recombination''' is the process which by genetic material is crossed over and switched between two segments of DNA which adds to the genetic diversity of the genome.&lt;br /&gt;
&lt;br /&gt;
'''SHOX gene''' is the short stature homeobox gene, that when deficient frequently results in short stature.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Sister chromatids'''&lt;br /&gt;
&lt;br /&gt;
'''Ultrasonography''' is a medical technique that employs ultrasound frequencies to visualise a patient's internal bodily structure.&amp;lt;ref&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== References ==&lt;br /&gt;
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&amp;lt;references/&amp;gt;&lt;br /&gt;
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{{2011Projects}}&lt;/div&gt;</summary>
		<author><name>Z3217043</name></author>
	</entry>
	<entry>
		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=73752</id>
		<title>2011 Group Project 1</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=73752"/>
		<updated>2011-09-30T10:02:33Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: &lt;/p&gt;
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&lt;div&gt;{{2011ProjectsMH}}&lt;br /&gt;
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== Turner Syndrome ==&lt;br /&gt;
&lt;br /&gt;
--[[User:S8600021|Mark Hill]] 10:44, 8 September 2011 (EST) Some of the existing sub-sections have appropriate content, but there are also empty sub-sections, a total lack of referencing/citation and no glossary. &lt;br /&gt;
* The referencing issue needs urgent  progress.&lt;br /&gt;
* Existing figures/table are appropriate. Table appears to be directly used from an uncited source.&lt;br /&gt;
* There needs to be more images in this work.&lt;br /&gt;
* Where is the student drawn figure?&lt;br /&gt;
* Read http://embryology.med.unsw.edu.au/embryology/index.php?title=Help:Reference_Tutorial#Multiple%20Instances%20on%20Page&lt;br /&gt;
&lt;br /&gt;
== Introduction ==&lt;br /&gt;
&lt;br /&gt;
Turner syndrome, named after Henry Hubert Turner who first described the syndrome in his paper in 1938,&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;4557013&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; is one of the most commonly occuring chromosomal disorders. It is caused by complete or partial X monosomy in some or all cells and occurs in approximately 1 in 2000 live female births, however the morbidity rate of spontaneous abortions is 10% and only about 1% of fetuses survive to term. &lt;br /&gt;
&lt;br /&gt;
During normal fetal development, each ovary contain as many as 7 million oocytes. The oocytes gradually reduced to 400,000 during menarche and during menopause fewer than 10,000 remains. However, in Turner syndrome, the ovaries develop normally during embryogenesis but the absence of the second X chromosome leads to an accelerated loss of oocytes, which is complete by the time the infant, is aged 2. Genetically menopause occurs before menarche and the ovaries are reduced to atrophic fibrous strands, devoid of ova and follicles (streak ovaries). Development of somatic (nongonadal) tissues that reside on the missing/abnormal X chromosome are also severely affected. For example short stature is caused by a deletion of the Xp chromosome and the deletion of Xq causes gonadal dysfunction &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt; 6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
 &lt;br /&gt;
The most frequent clinical feature is short stature and gonadal dysgenesis. Other features may include coarctation of the aorta, renal anomalies, neck webbing, and lymphoedema. The affected organ systems and tissues may are effected to a lesser or greater extent amongst that are affected by turner syndrome. Each person who has turner syndrome all vary in their clinical phenotype. In recent years there has been increased interest in Turner Syndrome due to the introduction of growth hormone treatment. There has been marked improvement in the understanding of this condition as advances in molecular genetic techniques occur. However, there still further research to be completed. A multidisciplinary approach to treatment is important to improve the quality of life of girls with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
 &lt;br /&gt;
[[File:Karyotype.jpg|200px|thumb|left|The arrow indicates the presence of only one X chromosome in Karyotype]]&lt;br /&gt;
&lt;br /&gt;
== Epidemiology ==&lt;br /&gt;
&lt;br /&gt;
Turner Syndrome affects about 1 in 2000 live-born females. There are three types of karyotypic abnormalities but the most frequently seen is where the entire X chromosome is missing resulting in 45 X karyotype. The remaining third have structural abnormalities of the X chromosomes, and two thirds are mosaics. Whereby, the maternal X is retained in two-thirds of women and the paternal X in the remainder.&lt;br /&gt;
The phenotype of Turner Syndrome is varies but it involves anomalies of the sex chromosome. It could be caused by the limited amount of genetic material in these abnormal chromosomes. Turner Syndrome can be transmitted from mother to daughter, and thus can it could be described as a heredity linked syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The loss of one of the sex chromosomes of turner syndrome occurs after the zygote has formed or just after the fusion of the gametes. In 70-80% of cases the retained X is from the mother. In such circumstances has lead to the different phenotypic expression of the genes present on the X chromosome depending upon if it came from the mother or father. &lt;br /&gt;
The morphological differences from those retaining the maternal compared to retaining the paternal X is have shown to have a greater incidence of cardiovascular anomalies and neck webbing. &lt;br /&gt;
The missing sex chromosome could be either an X or a Y. This has clinical implications because if the Y material is present there is a risk of up to 30% of gonadoblastoma developing in the dysgenetic gonads. This is because the 'gonadoblastoma locus' is on the Y chromosome which is believed to be situated on the long arm of the Y just below the centromere.&lt;br /&gt;
Another factor affecting the phenotype in Turner syndrome is the inactivation of the abnormal X chromosomes. In a normal fetus there should be only one X chromosome that is active in each cell &amp;lt;ref&amp;gt;Wade, Nicholas (2009-09-15). '''&amp;quot;New Clues to Sex Anomalies in How Y Chromosomes Are Copied&amp;quot;'''. The New York Times. Retrieved 2010-05-26. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1511250/?page=2&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
[[File:Stats abnormal.jpg]]  &lt;br /&gt;
&lt;br /&gt;
Abnormalities associated with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Etiology ==&lt;br /&gt;
[[File:nondisjunction.jpg|850px|thumb|right|alt text|This figure shows the progeny created from normal disjunction (A), and non-disjunction during both Meiosis I (B) and Meiosis II (C).]]&lt;br /&gt;
&lt;br /&gt;
Causation of Turner Syndrome (TS) can be traced back to the stages of sex-cell development.  When sex cells divide through a process called [[#Glossary | '''meiosis''']] to create [[#Glossary | '''gametes''']], either a [[#Glossary | '''haploid''']] egg (for females) or sperm (for males) two divisions occur, Meiosis I and Meiosis II.  Meiosis is the main process which helps create the vast genetic diversity within all populations by allowing [[#Glossary | '''recombination''']] and [[#Glossary | '''random assortment''']].  During Meiosis I [[#Glossary | '''homologous chromosomes''']] are separated; following Meiosis I, [[#Glossary | '''sister chromatids''']] separate during Meiosis II.  If during either stage of Meiosis I or II the homologous chromosomes or sister chromatids, respectively, do not fully separate, a phenomenon can occur called [[#Glossary | '''nondisjunction''']].  Nondisjunction causes an uneven distribution of genetic material to each daughter nuclei.  When an uneven distribution is such that one of the gametes does not have any of a chromosome, it can combine with another normal gamete to create a fertilized egg with only one chromosome as opposed to the normal two that are found in human cells; this is called a [[#Glossary | '''monosomy''']].  When this occurs in the sex chromosomes leaving only a single X chromosome (X0 genotype) Turner Syndrome is created, leaving only 45 chromosomes in the zygote rather than the normal 46.  &lt;br /&gt;
&lt;br /&gt;
[[File:22+23=45.jpg|350px|thumb|left|22 chromosomal egg + 23 chromosomal sperm = 45 chromsomes in zygote instead of normal 46.]]&lt;br /&gt;
Turner Syndrome can also be created by partial monosomy or disjunctions, meaning that although a whole X chromosome is not missing, portions of it are not present or are non-functional, rendering the chromosome useless.  Any disjunction seems to be completely sporadic and have yet to be attributed to any genetic link. The only thing known for sure is that during conception a portion of or the whole second sex chromosome is not conveyed to the zygote.&amp;lt;ref&amp;gt;http://www.nytimes.com/2009/09/15/science/15chrom.html?pagewanted=1&amp;amp;_r=1&amp;amp;hpw&amp;lt;/ref&amp;gt; Because at least one X chromosome is necessary for vital functions, this condition can only be found in females.&lt;br /&gt;
&lt;br /&gt;
== Clinical Manifestations ==&lt;br /&gt;
&lt;br /&gt;
The following are a list of characteristics and diseases which tend to accompany, be caused by, or be related to Turner Syndrome.  &lt;br /&gt;
&lt;br /&gt;
===Physical Attributes:===&lt;br /&gt;
*congenital malformations (heart, urinary system, face, neck, ears) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*gonadal dysgenesis (causes estrogen deficiencies, which can cause infertility) &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*increased risk of fractures &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16624607&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low cortical bone mineral density (BMD) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16624607&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*middle ear infections &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*premature ovarian failure &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*short/reduced stature &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*webbed neck &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Decreased Cognition:===&lt;br /&gt;
*emotion processing difficulties &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC3114458&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*increased impulsivity &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2742423&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low IQ score &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2742423&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*nonverbal learning disability (slow math calculations) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC3114458&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*social cognition difficulties &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC3114458&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*visuoperception/visuoconstruction deficit (identifying and locating is difficult due to poor visual working memory) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2742423&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Increased Risk of:===&lt;br /&gt;
*cirrhosis of the liver &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*colon and rectal cancers &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*hypothyroidism &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*inflammatory bowel disease &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*morbidity and mortality &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*neurovascular disease &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*osteoporosis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*ovarian failure &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*renal and gastrointestinal disease &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Prone to Develop Autoimmune Conditions:=== &lt;br /&gt;
*alopecia areata &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coeliac disease (CD) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12466343&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*psoriasis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*thyroiditis &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*type 1 diabetes &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Cardiac Abnormalities:===&lt;br /&gt;
(most serious/life threatening medical problems created by Turner Syndrome)&lt;br /&gt;
*absence of portal vein &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16612647&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*aortic dilatation and dissection  &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*arrhythmias &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;17015510&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*arteriosclerosis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*biscuspid aortic valves &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coarctation of the aorta &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*hypertension &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*ischemic heart disease &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*mitral valve prolapsed &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== Diagnostic Procedures ==&lt;br /&gt;
&lt;br /&gt;
===Diagnostic Definition===&lt;br /&gt;
&lt;br /&gt;
[[File:Turner Syndrome X Chromosome Variations.jpg|thumb|right|Variations of the Second X Chromosome in Turner Syndrome]]&lt;br /&gt;
Turner syndrome is diagnosed through both an evaluation of physical features and by analysis of the second sex chromosome. The two criteria must be met for classification of Turner syndrome, an abnormality in the second sex chromosome must be found and the abnormality must be found to be expressed somehow in the individual's traits. Hence if physical characteristics are not present even when the cytogenetic criterion is met the patient is not diagnosed as having Turner syndrome.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; In Turner syndrome the second sex chromosome is either:&lt;br /&gt;
&lt;br /&gt;
*Completely absent (45,X)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Partially absent&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Forms an isochromosome (isoXq), possessing a long arm duplication (q) and being devoid of a short arm (p)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*In a ring formation (rX)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Is devoid of the homeobox gene, [[#Glossary | '''SHOX''']] (short stature homeobox), the deletion being prior to the junction between Xp22.2 and Xp22.3&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
Any of these variations of the second sex chromosome may occur with or without cell line [[#Glossary | '''mosaicism''']].&lt;br /&gt;
Turner syndrome may be diagnosed prenatally or postnatally, using this genetic diagnostic definition coupled with an appropriate phenotypic evaluation of the individual, as outlined below.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Prenatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
The prenatal diagnostic tool for Turner syndrome is karyotype screening and testing for phenotype abnormalities. If Turner syndrome is diagnosed prenatally, karyotype screening and an evaluation of the individual's traits should be conducted again postnatally for confirmation of this diagnosis. Turner syndrome is frequently diagnosed after karyotype screening during [[#Glossary | '''chorionic villous sampling''']] or [[#Glossary | '''amniocentesis''']].&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
The table below outlines various prenatal tests conducted and the indications that may be present in babies with Turner syndrome. Although these techniques and the indications they reveal may highlight Turner syndrome signs, they should not be used as sole diagnostic tools.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Technique'''&lt;br /&gt;
| '''Turner syndrome indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Ultrasound'''&lt;br /&gt;
|&lt;br /&gt;
*Increased nuchal translucency &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Cystic hygroma''']] &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Coarctation''']] of the aorta &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Left-sided cardiac defects &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Brachycephaly''']] &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Renal anomalies &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Polyhydramnios''']] &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Oligohydramnios''']] &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Growth retardation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;10599686&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Turner Syndrome Test Showing Nuchal Translucency.gif|none|thumb|400px|Figure 2: Ultrasound Test Showing Nuchal Translucency.]]&lt;br /&gt;
[[File:Turner Syndrome Test Showing Cystic Hygroma.gif|none|thumb|400px|Figure 3: Ultrasound Test Showing Cystic Hygroma.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Maternal serum screening'''&lt;br /&gt;
|&lt;br /&gt;
*Abnormal [[#Glossary | '''α-fetoprotein''']] levels &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary | '''inhibin A''']] levels &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary | '''hCG''']] levels &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Abnormal unconjugated [[#Glossary | '''estriol''']] levels &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File: TurnerSyndromeMaternalSerumSampling.jpg|none|thumb|400px|Figure 4: Maternal Serum Sampling.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
===Postnatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
In postnatal diagnosis, [[#Glossary | '''karyotype''']] investigation is undertaken for the individual. When a female presents with the following clinical findings, explained in table below, it is recommended that chromosomal analysis is undertaken, so that Turner syndrome may be eliminated&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;:&lt;br /&gt;
{|sstyle= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Age'''&lt;br /&gt;
| '''Phenotypic manifestations/indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Baby/infant'''&lt;br /&gt;
|&lt;br /&gt;
*Oedema of the hands or feet&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Nuchal folds &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Cardiac abnormalities for example aortic dilation, bicuspid aortic valve and aortic coarctation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Low hairline &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Low set ears &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Small mandible &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Gonadal dysgenesis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Child'''&lt;br /&gt;
| &lt;br /&gt;
*Short stature with low growth velocity &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Cubitus valgus''']] &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Nail [[#Glossary | '''hypoplasia''']] &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Hyperconvex uplifted nails &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Multiple pigmented benign birthmarks/moles &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Characteristic faecies &amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Short fourth metacarpal &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*High arched palate &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Extensive and chronic inflammation/infection of the ear &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Hearing loss &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 4 year old child.jpg|left|thumb|150px|Figure 5: Four-year-old girl with Turner's syndrome. Note somewhat broad chest, prominent ears and ptosis, but otherwise normal proportion. There is no pronounced neck webbing or edema.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Adolescent/Adult'''&lt;br /&gt;
|&lt;br /&gt;
*Absence of breast development by 13 yr of age &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Pubertal arrest &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Primary or secondary amenorrhoea&amp;lt;ref name=&amp;quot;PMID6753342&amp;quot;/&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Unexplained short stature &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Renal abnormalities &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Immune disorders &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 35 year old woman.jpg|none|thumb|150px|Figure 6: A Thirtyfive-year-old woman with Turner's syndrome. Note increased carrying angle of arms, broad flat chest and sexual infantilism, but the lack of pronounced neck webbing or peripheral edema.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Since an absence of the physical signs of puberty and/or growth failure are often seen as normal variations in the population, these possible indications/symptoms of Turner syndrome may not be further investigated by many clinicians.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20361125&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; When karyotyping in order to exclude natural cell variation, a sufficient number of cells should be assessed. Whilst a sample of blood will often reveal Turner syndrome, an evaluation of a second tissue sample like the skin is recommend.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
[[#Glossary | '''DNA hybridisation''']] or [[#Glossary | '''fluorescent in situ hybridisation''']] should be conducted using a Y centromeric or short arm probe to detect for any additional Y or X chromosomal material.&lt;br /&gt;
If there is any of the Y chromosome present, this may initiate [[#Glossary | '''gonadoblastoma''']] development, another primary indicator of Turner syndrome. Hence the individual should have both a vaginal [[#Glossary | '''ultrasonograph''']] and colour [[#Glossary | '''Doppler sonograph''']] of their gonads to detect whether any Y chromosome fragments are present. These tests should be repeated regularly to monitor the patient for any malignancy, if a gonadectomy is not undertaken.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== Treatment ==&lt;br /&gt;
&lt;br /&gt;
=== Cardiac Treatment ===&lt;br /&gt;
&lt;br /&gt;
When patients are confirmed with Turner Syndrome, it is necessary to have a full cardiac evaulation including a physical exam and a echocardiogram. If cardiac abnormalities are found, monitoring by a cardiologist is recommended including regular blood pressure checks&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.  Coarctation of the aorta and hypoplastic left heart are quite often very serious issues are need to be dealt with surgically&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
If no abnormalities are found, blood pressure in Turner Syndrome patients is still routinely checked and a follow up cardiac evaulation is recommended for girls around the age of puberty (12-15)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Speech ===&lt;br /&gt;
&lt;br /&gt;
Many Turner Syndrome patients have trouble with their speech. It is necessary for them to be refered to an Ear, Nose and Throat specialist and to a speech therapist to work on improve any speech problems&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Management of Puberty and Growth ===&lt;br /&gt;
The main treatment for growth and pubertal development is Hormone Replacement Therapy. Growth Hormone is adminstered to girls with abnormal growth, resulting in postive growth that is consistent with the expected height of the patient. It is adminstered as early as 2 years of age, but more often in the age group of 9-12 which is in line with the growth spurt that occurs during puberty&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Natural estrogen and progesterone are administered to girls when they reach the age of puberty in early adolescence. The age at which this treatment commences varies between individuals, as does the dosage. The adminsteration of estrogen will begin the process of puberty in girls affected by Turner Syndrome and it is important that this begins around the same time as her peers&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. The use of estrogen is often held off if the patient is also undergoing GH treatment so that maximum growth can be achieved, as estrogen will induce the fusion of the epiphyses and limit longitudinal bone growth&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Around 10% of nonmosaic and 20% of mosaic women with Turner’s will have spontaneous menses (periods) and may not need to undergo Hormone Replacement to initiate puberty. Around 2-5% of these women will have the potential to fall pregnant naturally&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
=== Appearance ===&lt;br /&gt;
&lt;br /&gt;
Extreme neck webbing maybe worrying or uncomfortable to women with Turner’s and in some cases plastic surgery is undertaken to fix this problem. Also if convex gorwth of toenails occurs, surgery is conducted so that the woman can wear normal shoes&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Ongoing Adult Treatment ===&lt;br /&gt;
&lt;br /&gt;
Closely monitoring the health of Turner Syndrome adults is vital in the reduction of morbidity and mortality. An annual physical evalution should be undertaken which includes, blood pressure, heart auscultation, thyroid function, breast exam, and pap smear&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.  &lt;br /&gt;
&lt;br /&gt;
Particular attention needs to be taken in the area of weight and obesity in Turner Syndrome women due to their high risk of developing diabetes, osteoporosis and hypertension. Patients are to be encouraged to have a healthy lifestyle including healthy eating and exercise&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Research ==&lt;br /&gt;
&lt;br /&gt;
===Current research===&lt;br /&gt;
&lt;br /&gt;
Since there is no preventative or cure, currently mainly research is being conducted into the areas of symptoms, possible treatments and risks involved with Turner syndrome.&lt;br /&gt;
&lt;br /&gt;
'''Growth hormone therapy in Turner syndrome: its affect on height, weight and stature.'''&lt;br /&gt;
*'''Growth hormone effect on body composition in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21720878&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research findings from this paper conclude that people with Turner syndrome have lower height, higher BMI and higher proportional sitting height and leg length than that of the normal population, no matter whether they undergo hormone replacement therapy or not.&lt;br /&gt;
*'''Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21619701&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study has concluded that all adults with Turner syndrome had a similar quality of life regardless of whether they have a higher stature due to undergoing growth hormone replacement therapy or not. It was hypothesised that height differences did not affect quality of life as the individuals seemed to adapt to their own life challenges.&lt;br /&gt;
*'''Growth hormone treatment for Turner syndrome in Australia reveals that younger age and increased dose interact to improve response.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21375553&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research from this study found that growth hormone therapy works most optimally if given earlier in life and at a high dose in the first year of treatment.&lt;br /&gt;
*'''Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21398400&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: Another study which confers that the early introduction of growth hormone therapy is most efficacious. However the individual's glucose metabolism should be monitored as the hormones may affect glucose tolerance transiently.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Oestrogen hormone replacement therapy in Turner syndrome: the adequate dosage and its effect on uterine development, breast development, bone mineral density and sexual characteristics.'''&lt;br /&gt;
*'''Growth hormone plus childhood low-dose estrogen in Turner's syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21449786&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study indicates that undergoing both growth hormone and oestrogen therapy together may help increase the efficacy of each (increasing growth in height and pubertal development) more than when they act alone. &lt;br /&gt;
*'''Estrogen requirements in girls with Turner syndrome; how low is enough for initiating puberty and uterine development?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21793702&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study assessed the minimal dosage of estrogen that is required to bring about desired pubertal development in girls with Turner syndrome.&lt;br /&gt;
*'''Puberty induction in Turner syndrome: results of oestrogen treatment on development of secondary sexual characteristics, uterine dimensions and serum hormone levels.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19200215&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: It was found that uterus of women with Turner syndrome who had undergone oestrogen was underdeveloped, however the exact cause of this needs to be further researched.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Pregnancy and Turner syndrome: evaluation and treatment of risks involved with pregnancy for: the mothers of Turner syndrome babies, for individuals with Turner syndrome and for the babies of individuals with Turner syndrome.'''&lt;br /&gt;
*'''Familial occurrence of Turner syndrome: casual event or increased risk?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21648298&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research examined whether there is a higher probability of having a second child with Turner syndrome and concluded that there is evidence in the small cohort that they used of a greater probability. It is suggested that a larger study be conducted to look further into these findings.that &lt;br /&gt;
*'''Obstetric Outcomes in Women with Turner Karyotype.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21865365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: In this study it was found that women with Turner syndrome had shorter pregnancies than that of a control group, but no other marked difference was observed between the groups.&lt;br /&gt;
*'''Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21496813&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This paper examined a number of pregnant women with Turner syndrome, some who incidentally went through puberty even though they had no hormone replacement therapy and another group that had undertaken hormone replacement therapy. Though there were not many complications in either group, the groups were small in number and one mother did have cardiovascular difficulties later on in life. Hence a thorough examination of pregnant Turner syndrome women should be conducted prior to conception.&lt;br /&gt;
*'''Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20923275&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This article assessed the prognosis of pregnant women with Turner syndrome. They concluded that spontaneous pregnancy increases the risk of the baby having phenotypic and chromosomal abnormalities compared with women having assisted reproductive therapies.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Future research=== &lt;br /&gt;
&lt;br /&gt;
Future research needs to be conducted in the following areas: to follow up on the suggestions given in the conclusions of current research papers as outlined in the prior section and also into how the care system is functioning for Turner syndrome individuals as outlined below.&lt;br /&gt;
&lt;br /&gt;
*'''Medical Care of Girls with Turner Syndrome: Where are we Lacking?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21454226&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research found that a large proportion (&amp;gt;50%) of people with Turner syndrome are not given adequate information upon diagnosis or screenings for complications and symptoms. Therefore it is suggested in order to rectify this issue that more education should be given to physicians on the syndrome&lt;br /&gt;
*'''Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21752892&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; and '''Turner's syndrome requires multidisciplinary approach.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19514616&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: These article evaluate the need for a multidisciplinary approach to treatment of Turner syndrome. Since the symptoms can be wide ranging and severe, it is difficult but necessary for all of them to be examined in each individual. Hence a greater care plan for individuals should be implemented upon diagnosis.&lt;br /&gt;
&lt;br /&gt;
== Glossary ==&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Alpha-fetoprotein''' is a protein with an unknown function. It makes up, up to one third of the protein serum levels found in the second trimester of pregnancy and in neural tube defects, these alpha-fetoprotein levels are elevated. &amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Amniocentesis''' is a prenatal diagnostic tool. The procedure involves the sampling of amniotic fluid from the amniotic sac using a syringe, that is then tested for a number of abnormalities. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Brachycephaly''' is a condition where the coronal suture of the skull fuses prematurely. Since the skull is unable to expand any further in the anterior-posterior directions due to this closure, it grows to an abnormal size in in the lateral dimension.&amp;lt;ref&amp;gt;Flint, P 2010, ''Flint: Cummings Otolaryngology: Head &amp;amp; Neck Surgery, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-323-05283-2..00186-5--s0045&amp;amp;isbn=978-0-323-05283-2&amp;amp;uniqId=282726024-5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Coarctation''' of the aorta is an abnormality where the aorta is constricted at one or various sections. This can be caused by genetic and/or environmental factors.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Chorionic villous sampling''' is a prenatal diagnostic tool which can be used from 7 weeks after fertilisation. It is used to test for a number of chromosomal abnormalities including X-linked and metabolic disorders.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Cystic hygroma''' is a prenatal abnormality where fluid builds up in the posterior portion of the neck. The body may or may not relieve itself naturally of this accumulation of fluid after birth. &amp;lt;ref&amp;gt;Gabbe, S 2007, ''Gabbe: Obstetrics: Normal and Problem Pregnancies, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-443-06930-7..50011-6--cesec51&amp;amp;isbn=978-0-443-06930-7&amp;amp;uniqId=282726024-10&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''DNA-DNA hybridisation''' is a technique used to compare the similarities and differences between two sets of genes.&amp;lt;ref&amp;gt;Long, S 2009, ''Bradley: Neurology in Clinical Practice, 5th ed.Long: Principles and Practice of Pediatric Infectious Diseases Revised Reprint, 3rd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X&amp;amp;isbn=978-0-7020-3468-8&amp;amp;uniqId=282726024-19#4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Doppler sonography''' uses the doppler effect to help image and measure blood flow pattern in the patient.&amp;lt;ref&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Estriol''' is a hormone that is produced in greater amounts during pregnancy especially in the second and third trimester. One of its main functions is to assist with blood flow in the placenta and uterus.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Gametes''' are reproductive (sex) cells (ie: eggs and sperm) that can unite to form a new cell called a zygote. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6&amp;amp;isbn=978-0-443-06811-9&amp;amp;uniqId=283289096-4#4-u1.0-B978-0-443-06811-9..10001-6--b0020&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Gonadoblastoma''' is an abnormal proliferation of gonadal cells, that may or may not be malignant.&amp;lt;ref&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Haploid''' is the status of a cell having only a single set of unpaired chromosomes, or half the number of chromosomes contained in typical body cells. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10019-3--sec5&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208594256&amp;amp;uniqId=283289096-7#4-u1.0-B978-0-443-06811-9..10019-3--sec5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''hCG''' is the abbreviation for human chorionic gonadotropin. It is a hormone that functions in the early stage of pregnancy to maintain the blood supply to the corpus luteum.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Homologous chromosomes''' are pairs of chromosomes, one each obtained from maternal and paternal gametes.  46 total chromosome complements are within an organism, 22 pairs of which are homologous chromosomes (called autosomes); the other 2 chromosomes are the sex chromosomes. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6--sec7&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208599219&amp;amp;uniqId=283289096-10#4-u1.0-B978-0-443-06811-9..10001-6--sec9&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
'''Hypoplasia''' is when an organ or tissue is not completely developed.&amp;lt;ref&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Inhibin A''' is a peptide produced by the ovaries and acts to restrain the production of follicle-stimulating hormone.&amp;lt;ref&amp;gt;Melmed, S 2011, ''Melmed: Williams Textbook of Endocrinology, 12th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0324-5..00045-6&amp;amp;isbn=978-1-4377-0324-5&amp;amp;uniqId=282726024-25 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Karyotype''' is an individual's set of chromosomes, both their number and appearance.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Meiosis''' is the specific process of cell division within sex cells which halves the number of chromosomes in the cells through via two cell divisions; this is specific to germ cells only, creating haploid gametes (sex cells) from diploid cells. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
'''Monosomy''' is a condition wherein a specific chromosome is completely missing within one gamete that combines with a normal gamete to form a zygote; a chromosome has no homologue, or matching chromosome, to pair with. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6--sec15&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208595822&amp;amp;uniqId=283289096-8#4-u1.0-B978-0-443-06811-9..10001-6--sec41&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Mosaicism''' is when a particular type or all cells of an individual do not have the same genetic makeup. This is caused by a mutation during embryonic cell division.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Nondisjunction''' is the failure of chromosome pairs to separate entirely during either stage of Meiosis. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec27&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--spara33&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Oligohydramnios''' is a prenatal condition, where there is an insufficient amount of amniotic fluid.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Polyhydramnios''' is a prenatal condition, where there is an excessive amount of amniotic fluid.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Random assortment'''&lt;br /&gt;
&lt;br /&gt;
'''Recombination''' is the process which by genetic material is crossed over and switched between two segments of DNA which adds to the genetic diversity of the genome.&lt;br /&gt;
&lt;br /&gt;
'''SHOX gene''' is the short stature homeobox gene, that when deficient frequently results in short stature.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Sister chromatids'''&lt;br /&gt;
&lt;br /&gt;
'''Ultrasonography''' is a medical technique that employs ultrasound frequencies to visualise a patient's internal bodily structure.&amp;lt;ref&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== References ==&lt;br /&gt;
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	<entry>
		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=73745</id>
		<title>2011 Group Project 1</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=73745"/>
		<updated>2011-09-30T09:33:31Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: &lt;/p&gt;
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== Turner Syndrome ==&lt;br /&gt;
&lt;br /&gt;
--[[User:S8600021|Mark Hill]] 10:44, 8 September 2011 (EST) Some of the existing sub-sections have appropriate content, but there are also empty sub-sections, a total lack of referencing/citation and no glossary. &lt;br /&gt;
* The referencing issue needs urgent  progress.&lt;br /&gt;
* Existing figures/table are appropriate. Table appears to be directly used from an uncited source.&lt;br /&gt;
* There needs to be more images in this work.&lt;br /&gt;
* Where is the student drawn figure?&lt;br /&gt;
* Read http://embryology.med.unsw.edu.au/embryology/index.php?title=Help:Reference_Tutorial#Multiple%20Instances%20on%20Page&lt;br /&gt;
&lt;br /&gt;
== Introduction ==&lt;br /&gt;
&lt;br /&gt;
Turner syndrome, named after Henry Hubert Turner who first described the syndrome in his paper in 1938,&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;4557013&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; is one of the most commonly occuring chromosomal disorders. It is caused by complete or partial X monosomy in some or all cells and occurs in approximately 1 in 2000 live female births, however the morbidity rate of spontaneous abortions is 10% and only about 1% of fetuses survive to term. &lt;br /&gt;
&lt;br /&gt;
During normal fetal development, each ovary contain as many as 7 million oocytes. The oocytes gradually reduced to 400,000 during menarche and during menopause fewer than 10,000 remains. However, in Turner syndrome, the ovaries develop normally during embryogenesis but the absence of the second X chromosome leads to an accelerated loss of oocytes, which is complete by the time the infant, is aged 2. Genetically menopause occurs before menarche and the ovaries are reduced to atrophic fibrous strands, devoid of ova and follicles (streak ovaries). Development of somatic (nongonadal) tissues that reside on the missing/abnormal X chromosome are also severely affected. For example short stature is caused by a deletion of the Xp chromosome and the deletion of Xq causes gonadal dysfunction &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt; 6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
 &lt;br /&gt;
The most frequent clinical feature is short stature and gonadal dysgenesis. Other features may include coarctation of the aorta, renal anomalies, neck webbing, and lymphoedema. The affected organ systems and tissues may are effected to a lesser or greater extent amongst that are affected by turner syndrome. Each person who has turner syndrome all vary in their clinical phenotype. In recent years there has been increased interest in Turner Syndrome due to the introduction of growth hormone treatment. There has been marked improvement in the understanding of this condition as advances in molecular genetic techniques occur. However, there still further research to be completed. A multidisciplinary approach to treatment is important to improve the quality of life of girls with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
 &lt;br /&gt;
[[File:Karyotype.jpg|200px|thumb|left|The arrow indicates the presence of only one X chromosome in Karyotype]]&lt;br /&gt;
&lt;br /&gt;
== Epidemiology ==&lt;br /&gt;
&lt;br /&gt;
Turner Syndrome affects about 1 in 2000 live-born females. There are three types of karyotypic abnormalities but the most frequently seen is where the entire X chromosome is missing resulting in 45 X karyotype. The remaining third have structural abnormalities of the X chromosomes, and two thirds are mosaics. Whereby, the maternal X is retained in two-thirds of women and the paternal X in the remainder.&lt;br /&gt;
The phenotype of Turner Syndrome is varies but it involves anomalies of the sex chromosome. It could be caused by the limited amount of genetic material in these abnormal chromosomes. Turner Syndrome can be transmitted from mother to daughter, and thus can it could be described as a heredity linked syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The loss of one of the sex chromosomes of turner syndrome occurs after the zygote has formed or just after the fusion of the gametes. In 70-80% of cases the retained X is from the mother. In such circumstances has lead to the different phenotypic expression of the genes present on the X chromosome depending upon if it came from the mother or father. &lt;br /&gt;
The morphological differences from those retaining the maternal compared to retaining the paternal X is have shown to have a greater incidence of cardiovascular anomalies and neck webbing. &lt;br /&gt;
The missing sex chromosome could be either an X or a Y. This has clinical implications because if the Y material is present there is a risk of up to 30% of gonadoblastoma developing in the dysgenetic gonads. This is because the 'gonadoblastoma locus' is on the Y chromosome which is believed to be situated on the long arm of the Y just below the centromere.&lt;br /&gt;
Another factor affecting the phenotype in Turner syndrome is the inactivation of the abnormal X chromosomes. In a normal fetus there should be only one X chromosome that is active in each cell &amp;lt;ref&amp;gt;Wade, Nicholas (2009-09-15). '''&amp;quot;New Clues to Sex Anomalies in How Y Chromosomes Are Copied&amp;quot;'''. The New York Times. Retrieved 2010-05-26. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1511250/?page=2&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
[[File:Stats abnormal.jpg]]  &lt;br /&gt;
&lt;br /&gt;
Abnormalities associated with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Etiology ==&lt;br /&gt;
[[File:nondisjunction.jpg|850px|thumb|right|alt text|This figure shows the progeny created from normal disjunction (A), and non-disjunction during both Meiosis I (B) and Meiosis II (C).]]&lt;br /&gt;
&lt;br /&gt;
Causation of Turner Syndrome (TS) can be traced back to the stages of sex-cell development.  When sex cells divide through a process called [[#Glossary | '''meiosis''']] to create [[#Glossary | '''gametes''']], either a [[#Glossary | '''haploid''']] egg (for females) or sperm (for males) two divisions occur, Meiosis I and Meiosis II.  Meiosis is the main process which helps create the vast genetic diversity within all populations by allowing [[#Glossary | '''recombination''']] and [[#Glossary | '''random assortment''']].  During Meiosis I [[#Glossary | '''homologous chromosomes''']] are separated; following Meiosis I, [[#Glossary | '''sister chromatids''']] separate during Meiosis II.  If during either stage of Meiosis I or II the homologous chromosomes or sister chromatids, respectively, do not fully separate, a phenomenon can occur called [[#Glossary | '''nondisjunction''']].  Nondisjunction causes an uneven distribution of genetic material to each daughter nuclei.  When an uneven distribution is such that one of the gametes does not have any of a chromosome, it can combine with another normal gamete to create a fertilized egg with only one chromosome as opposed to the normal two that are found in human cells; this is called a [[#Glossary | '''monosomy''']].  When this occurs in the sex chromosomes leaving only a single X chromosome (X0 genotype) Turner Syndrome is created, leaving only 45 chromosomes in the zygote rather than the normal 46.  &lt;br /&gt;
&lt;br /&gt;
[[File:22+23=45.jpg|350px|thumb|left|22 chromosomal egg + 23 chromosomal sperm = 45 chromsomes in zygote instead of normal 46.]]&lt;br /&gt;
Turner Syndrome can also be created by partial monosomy or disjunctions, meaning that although a whole X chromosome is not missing, portions of it are not present or are non-functional, rendering the chromosome useless.  Any disjunction seems to be completely sporadic and have yet to be attributed to any genetic link. The only thing known for sure is that during conception a portion of or the whole second sex chromosome is not conveyed to the zygote.&amp;lt;ref&amp;gt;http://www.nytimes.com/2009/09/15/science/15chrom.html?pagewanted=1&amp;amp;_r=1&amp;amp;hpw&amp;lt;/ref&amp;gt; Because at least one X chromosome is necessary for vital functions, this condition can only be found in females.&lt;br /&gt;
&lt;br /&gt;
== Clinical Manifestations ==&lt;br /&gt;
&lt;br /&gt;
The following are a list of characteristics and diseases which tend to accompany, be caused by, or be related to Turner Syndrome.  &lt;br /&gt;
&lt;br /&gt;
===Physical Attributes:===&lt;br /&gt;
*congenital malformations (heart, urinary system, face, neck, ears) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*gonadal dysgenesis (causes estrogen deficiencies, which can cause infertility) &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*increased risk of fractures &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16624607&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low cortical bone mineral density (BMD) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16624607&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*middle ear infections &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*premature ovarian failure &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*short/reduced stature &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*webbed neck &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Decreased Cognition:===&lt;br /&gt;
*emotion processing difficulties &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC3114458&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*increased impulsivity &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2742423&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low IQ score &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2742423&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*nonverbal learning disability (slow math calculations) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC3114458&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*social cognition difficulties &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC3114458&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*visuoperception/visuoconstruction deficit (identifying and locating is difficult due to poor visual working memory) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2742423&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Increased Risk of:===&lt;br /&gt;
*cirrhosis of the liver &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*colon and rectal cancers &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*hypothyroidism &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*inflammatory bowel disease &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*morbidity and mortality &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*neurovascular disease &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*osteoporosis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*ovarian failure &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*renal and gastrointestinal disease &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Prone to Develop Autoimmune Conditions:=== &lt;br /&gt;
*alopecia areata &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coeliac disease (CD) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12466343&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*psoriasis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*thyroiditis &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*type 1 diabetes &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Cardiac Abnormalities:===&lt;br /&gt;
(most serious/life threatening medical problems created by Turner Syndrome)&lt;br /&gt;
*absence of portal vein &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16612647&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*aortic dilatation and dissection  &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*arrhythmias &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;17015510&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*arteriosclerosis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*biscuspid aortic valves &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coarctation of the aorta &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*hypertension &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*ischemic heart disease &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*mitral valve prolapsed &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== Diagnostic Procedures ==&lt;br /&gt;
&lt;br /&gt;
===Diagnostic Definition===&lt;br /&gt;
&lt;br /&gt;
[[File:Turner Syndrome X Chromosome Variations.jpg|thumb|right|Variations of the Second X Chromosome in Turner Syndrome]]&lt;br /&gt;
Turner syndrome is diagnosed through both an evaluation of physical features and by analysis of the second sex chromosome. The two criteria must be met for classification of Turner syndrome, an abnormality in the second sex chromosome must be found and the abnormality must be found to be expressed somehow in the individual's traits. Hence if physical characteristics are not present even when the cytogenetic criterion is met the patient is not diagnosed as having Turner syndrome.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; In Turner syndrome the second sex chromosome is either:&lt;br /&gt;
&lt;br /&gt;
*Completely absent (45,X)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Partially absent&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Forms an isochromosome (isoXq), possessing a long arm duplication (q) and being devoid of a short arm (p)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*In a ring formation (rX)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Is devoid of the homeobox gene, [[#Glossary | '''SHOX''']] (short stature homeobox), the deletion being prior to the junction between Xp22.2 and Xp22.3&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
Any of these variations of the second sex chromosome may occur with or without cell line [[#Glossary | '''mosaicism''']].&lt;br /&gt;
Turner syndrome may be diagnosed prenatally or postnatally, using this genetic diagnostic definition coupled with an appropriate phenotypic evaluation of the individual, as outlined below.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Prenatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
The prenatal diagnostic tool for Turner syndrome is karyotype screening and testing for phenotype abnormalities. If Turner syndrome is diagnosed prenatally, karyotype screening and an evaluation of the individual's traits should be conducted again postnatally for confirmation of this diagnosis. Turner syndrome is frequently diagnosed after karyotype screening during [[#Glossary | '''chorionic villous sampling''']] or [[#Glossary | '''amniocentesis''']].&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
The table below outlines various prenatal tests conducted and the indications that may be present in babies with Turner syndrome. Although these techniques and the indications they reveal may highlight Turner syndrome signs, they should not be used as sole diagnostic tools.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Technique'''&lt;br /&gt;
| '''Turner syndrome indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Ultrasound'''&lt;br /&gt;
|&lt;br /&gt;
*Increased nuchal translucency &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Cystic hygroma''']] &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Coarctation''']] of the aorta &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Left-sided cardiac defects &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Brachycephaly''']] &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Renal anomalies &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Polyhydramnios''']] &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Oligohydramnios''']] &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Growth retardation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;10599686&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Turner Syndrome Test Showing Nuchal Translucency.gif|none|thumb|400px|Figure 2: Ultrasound Test Showing Nuchal Translucency.]]&lt;br /&gt;
[[File:Turner Syndrome Test Showing Cystic Hygroma.gif|none|thumb|400px|Figure 3: Ultrasound Test Showing Cystic Hygroma.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Maternal serum screening'''&lt;br /&gt;
|&lt;br /&gt;
*Abnormal [[#Glossary | '''α-fetoprotein''']] levels &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary | '''inhibin A''']] levels &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary | '''hCG''']] levels &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Abnormal unconjugated [[#Glossary | '''estriol''']] levels &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File: TurnerSyndromeMaternalSerumSampling.jpg|none|thumb|400px|Figure 4: Maternal Serum Sampling.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
===Postnatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
In postnatal diagnosis, [[#Glossary | '''karyotype''']] investigation is undertaken for the individual. When a female presents with the following clinical findings, explained in table below, it is recommended that chromosomal analysis is undertaken, so that Turner syndrome may be eliminated&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;:&lt;br /&gt;
{|sstyle= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Age'''&lt;br /&gt;
| '''Phenotypic manifestations/indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Baby/infant'''&lt;br /&gt;
|&lt;br /&gt;
*Oedema of the hands or feet&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Nuchal folds &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Cardiac abnormalities for example aortic dilation, bicuspid aortic valve and aortic coarctation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Low hairline &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Low set ears &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Small mandible &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Gonadal dysgenesis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Child'''&lt;br /&gt;
| &lt;br /&gt;
*Short stature with low growth velocity &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Cubitus valgus''']] &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Nail [[#Glossary | '''hypoplasia''']] &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Hyperconvex uplifted nails &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Multiple pigmented benign birthmarks/moles &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Characteristic faecies &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Short fourth metacarpal &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*High arched palate &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Extensive and chronic inflammation/infection of the ear &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Hearing loss &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 4 year old child.jpg|left|thumb|150px|Figure 5: Four-year-old girl with Turner's syndrome. Note somewhat broad chest, prominent ears and ptosis, but otherwise normal proportion. There is no pronounced neck webbing or edema.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Adolescent/Adult'''&lt;br /&gt;
|&lt;br /&gt;
*Absence of breast development by 13 yr of age &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Pubertal arrest &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Primary or secondary amenorrhoea&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Unexplained short stature &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Renal abnormalities &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Immune disorders &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 35 year old woman.jpg|none|thumb|150px|Figure 6: A Thirtyfive-year-old woman with Turner's syndrome. Note increased carrying angle of arms, broad flat chest and sexual infantilism, but the lack of pronounced neck webbing or peripheral edema.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Since an absence of the physical signs of puberty and/or growth failure are often seen as normal variations in the population, these possible indications/symptoms of Turner syndrome may not be further investigated by many clinicians.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20361125&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; When karyotyping in order to exclude natural cell variation, a sufficient number of cells should be assessed. Whilst a sample of blood will often reveal Turner syndrome, an evaluation of a second tissue sample like the skin is recommend.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
[[#Glossary | '''DNA hybridisation''']] or [[#Glossary | '''fluorescent in situ hybridisation''']] should be conducted using a Y centromeric or short arm probe to detect for any additional Y or X chromosomal material.&lt;br /&gt;
If there is any of the Y chromosome present, this may initiate [[#Glossary | '''gonadoblastoma''']] development, another primary indicator of Turner syndrome. Hence the individual should have both a vaginal [[#Glossary | '''ultrasonograph''']] and colour [[#Glossary | '''Doppler sonograph''']] of their gonads to detect whether any Y chromosome fragments are present. These tests should be repeated regularly to monitor the patient for any malignancy, if a gonadectomy is not undertaken.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== Treatment ==&lt;br /&gt;
&lt;br /&gt;
=== Cardiac Treatment ===&lt;br /&gt;
&lt;br /&gt;
When patients are confirmed with Turner Syndrome, it is necessary to have a full cardiac evaulation including a physical exam and a echocardiogram. If cardiac abnormalities are found, monitoring by a cardiologist is recommended including regular blood pressure checks&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.  Coarctation of the aorta and hypoplastic left heart are quite often very serious issues are need to be dealt with surgically&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
If no abnormalities are found, blood pressure in Turner Syndrome patients is still routinely checked and a follow up cardiac evaulation is recommended for girls around the age of puberty (12-15)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Speech ===&lt;br /&gt;
&lt;br /&gt;
Many Turner Syndrome patients have trouble with their speech. It is necessary for them to be refered to an Ear, Nose and Throat specialist and to a speech therapist to work on improve any speech problems&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Management of Puberty and Growth ===&lt;br /&gt;
The main treatment for growth and pubertal development is Hormone Replacement Therapy. Growth Hormone is adminstered to girls with abnormal growth, resulting in postive growth that is consistent with the expected height of the patient. It is adminstered as early as 2 years of age, but more often in the age group of 9-12 which is in line with the growth spurt that occurs during puberty&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Natural estrogen and progesterone are administered to girls when they reach the age of puberty in early adolescence. The age at which this treatment commences varies between individuals, as does the dosage. The adminsteration of estrogen will begin the process of puberty in girls affected by Turner Syndrome and it is important that this begins around the same time as her peers&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. The use of estrogen is often held off if the patient is also undergoing GH treatment so that maximum growth can be achieved, as estrogen will induce the fusion of the epiphyses and limit longitudinal bone growth&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Around 10% of nonmosaic and 20% of mosaic women with Turner’s will have spontaneous menses (periods) and may not need to undergo Hormone Replacement to initiate puberty. Around 2-5% of these women will have the potential to fall pregnant naturally&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
=== Appearance ===&lt;br /&gt;
&lt;br /&gt;
Extreme neck webbing maybe worrying or uncomfortable to women with Turner’s and in some cases plastic surgery is undertaken to fix this problem. Also if convex gorwth of toenails occurs, surgery is conducted so that the woman can wear normal shoes&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Ongoing Adult Treatment ===&lt;br /&gt;
&lt;br /&gt;
Closely monitoring the health of Turner Syndrome adults is vital in the reduction of morbidity and mortality. An annual physical evalution should be undertaken which includes, blood pressure, heart auscultation, thyroid function, breast exam, and pap smear&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.  &lt;br /&gt;
&lt;br /&gt;
Particular attention needs to be taken in the area of weight and obesity in Turner Syndrome women due to their high risk of developing diabetes, osteoporosis and hypertension. Patients are to be encouraged to have a healthy lifestyle including healthy eating and exercise&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Research ==&lt;br /&gt;
&lt;br /&gt;
===Current research===&lt;br /&gt;
&lt;br /&gt;
Since there is no preventative or cure, currently mainly research is being conducted into the areas of symptoms, possible treatments and risks involved with Turner syndrome.&lt;br /&gt;
&lt;br /&gt;
'''Growth hormone therapy in Turner syndrome: its affect on height, weight and stature.'''&lt;br /&gt;
*'''Growth hormone effect on body composition in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21720878&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research findings from this paper conclude that people with Turner syndrome have lower height, higher BMI and higher proportional sitting height and leg length than that of the normal population, no matter whether they undergo hormone replacement therapy or not.&lt;br /&gt;
*'''Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21619701&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study has concluded that all adults with Turner syndrome had a similar quality of life regardless of whether they have a higher stature due to undergoing growth hormone replacement therapy or not. It was hypothesised that height differences did not affect quality of life as the individuals seemed to adapt to their own life challenges.&lt;br /&gt;
*'''Growth hormone treatment for Turner syndrome in Australia reveals that younger age and increased dose interact to improve response.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21375553&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research from this study found that growth hormone therapy works most optimally if given earlier in life and at a high dose in the first year of treatment.&lt;br /&gt;
*'''Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21398400&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: Another study which confers that the early introduction of growth hormone therapy is most efficacious. However the individual's glucose metabolism should be monitored as the hormones may affect glucose tolerance transiently.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Oestrogen hormone replacement therapy in Turner syndrome: the adequate dosage and its effect on uterine development, breast development, bone mineral density and sexual characteristics.'''&lt;br /&gt;
*'''Growth hormone plus childhood low-dose estrogen in Turner's syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21449786&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study indicates that undergoing both growth hormone and oestrogen therapy together may help increase the efficacy of each (increasing growth in height and pubertal development) more than when they act alone. &lt;br /&gt;
*'''Estrogen requirements in girls with Turner syndrome; how low is enough for initiating puberty and uterine development?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21793702&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study assessed the minimal dosage of estrogen that is required to bring about desired pubertal development in girls with Turner syndrome.&lt;br /&gt;
*'''Puberty induction in Turner syndrome: results of oestrogen treatment on development of secondary sexual characteristics, uterine dimensions and serum hormone levels.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19200215&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: It was found that uterus of women with Turner syndrome who had undergone oestrogen was underdeveloped, however the exact cause of this needs to be further researched.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Pregnancy and Turner syndrome: evaluation and treatment of risks involved with pregnancy for: the mothers of Turner syndrome babies, for individuals with Turner syndrome and for the babies of individuals with Turner syndrome.'''&lt;br /&gt;
*'''Familial occurrence of Turner syndrome: casual event or increased risk?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21648298&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research examined whether there is a higher probability of having a second child with Turner syndrome and concluded that there is evidence in the small cohort that they used of a greater probability. It is suggested that a larger study be conducted to look further into these findings.that &lt;br /&gt;
*'''Obstetric Outcomes in Women with Turner Karyotype.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21865365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: In this study it was found that women with Turner syndrome had shorter pregnancies than that of a control group, but no other marked difference was observed between the groups.&lt;br /&gt;
*'''Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21496813&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This paper examined a number of pregnant women with Turner syndrome, some who incidentally went through puberty even though they had no hormone replacement therapy and another group that had undertaken hormone replacement therapy. Though there were not many complications in either group, the groups were small in number and one mother did have cardiovascular difficulties later on in life. Hence a thorough examination of pregnant Turner syndrome women should be conducted prior to conception.&lt;br /&gt;
*'''Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20923275&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This article assessed the prognosis of pregnant women with Turner syndrome. They concluded that spontaneous pregnancy increases the risk of the baby having phenotypic and chromosomal abnormalities compared with women having assisted reproductive therapies.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Future research=== &lt;br /&gt;
&lt;br /&gt;
Future research needs to be conducted in the following areas: to follow up on the suggestions given in the conclusions of current research papers as outlined in the prior section and also into how the care system is functioning for Turner syndrome individuals as outlined below.&lt;br /&gt;
&lt;br /&gt;
*'''Medical Care of Girls with Turner Syndrome: Where are we Lacking?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21454226&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research found that a large proportion (&amp;gt;50%) of people with Turner syndrome are not given adequate information upon diagnosis or screenings for complications and symptoms. Therefore it is suggested in order to rectify this issue that more education should be given to physicians on the syndrome&lt;br /&gt;
*'''Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21752892&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; and '''Turner's syndrome requires multidisciplinary approach.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19514616&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: These article evaluate the need for a multidisciplinary approach to treatment of Turner syndrome. Since the symptoms can be wide ranging and severe, it is difficult but necessary for all of them to be examined in each individual. Hence a greater care plan for individuals should be implemented upon diagnosis.&lt;br /&gt;
&lt;br /&gt;
== Glossary ==&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Alpha-fetoprotein''' is a protein with an unknown function. It makes up, up to one third of the protein serum levels found in the second trimester of pregnancy and in neural tube defects, these alpha-fetoprotein levels are elevated. &amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Amniocentesis''' is a prenatal diagnostic tool. The procedure involves the sampling of amniotic fluid from the amniotic sac using a syringe, that is then tested for a number of abnormalities. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Brachycephaly''' is a condition where the coronal suture of the skull fuses prematurely. Since the skull is unable to expand any further in the anterior-posterior directions due to this closure, it grows to an abnormal size in in the lateral dimension.&amp;lt;ref&amp;gt;Flint, P 2010, ''Flint: Cummings Otolaryngology: Head &amp;amp; Neck Surgery, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-323-05283-2..00186-5--s0045&amp;amp;isbn=978-0-323-05283-2&amp;amp;uniqId=282726024-5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Coarctation''' of the aorta is an abnormality where the aorta is constricted at one or various sections. This can be caused by genetic and/or environmental factors.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Chorionic villous sampling''' is a prenatal diagnostic tool which can be used from 7 weeks after fertilisation. It is used to test for a number of chromosomal abnormalities including X-linked and metabolic disorders.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Cystic hygroma''' is a prenatal abnormality where fluid builds up in the posterior portion of the neck. The body may or may not relieve itself naturally of this accumulation of fluid after birth. &amp;lt;ref&amp;gt;Gabbe, S 2007, ''Gabbe: Obstetrics: Normal and Problem Pregnancies, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-443-06930-7..50011-6--cesec51&amp;amp;isbn=978-0-443-06930-7&amp;amp;uniqId=282726024-10&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''DNA-DNA hybridisation''' is a technique used to compare the similarities and differences between two sets of genes.&amp;lt;ref&amp;gt;Long, S 2009, ''Bradley: Neurology in Clinical Practice, 5th ed.Long: Principles and Practice of Pediatric Infectious Diseases Revised Reprint, 3rd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X&amp;amp;isbn=978-0-7020-3468-8&amp;amp;uniqId=282726024-19#4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Doppler sonography''' uses the doppler effect to help image and measure blood flow pattern in the patient.&amp;lt;ref&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Estriol''' is a hormone that is produced in greater amounts during pregnancy especially in the second and third trimester. One of its main functions is to assist with blood flow in the placenta and uterus.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Gametes''' are reproductive (sex) cells (ie: eggs and sperm) that can unite to form a new cell called a zygote. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6&amp;amp;isbn=978-0-443-06811-9&amp;amp;uniqId=283289096-4#4-u1.0-B978-0-443-06811-9..10001-6--b0020&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Gonadoblastoma''' is an abnormal proliferation of gonadal cells, that may or may not be malignant.&amp;lt;ref&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Haploid''' is the status of a cell having only a single set of unpaired chromosomes, or half the number of chromosomes contained in typical body cells. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10019-3--sec5&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208594256&amp;amp;uniqId=283289096-7#4-u1.0-B978-0-443-06811-9..10019-3--sec5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''hCG''' is the abbreviation for human chorionic gonadotropin. It is a hormone that functions in the early stage of pregnancy to maintain the blood supply to the corpus luteum.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Homologous chromosomes''' are pairs of chromosomes, one each obtained from maternal and paternal gametes.  46 total chromosome complements are within an organism, 22 pairs of which are homologous chromosomes (called autosomes); the other 2 chromosomes are the sex chromosomes. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6--sec7&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208599219&amp;amp;uniqId=283289096-10#4-u1.0-B978-0-443-06811-9..10001-6--sec9&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
'''Hypoplasia''' is when an organ or tissue is not completely developed.&amp;lt;ref&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Inhibin A''' is a peptide produced by the ovaries and acts to restrain the production of follicle-stimulating hormone.&amp;lt;ref&amp;gt;Melmed, S 2011, ''Melmed: Williams Textbook of Endocrinology, 12th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0324-5..00045-6&amp;amp;isbn=978-1-4377-0324-5&amp;amp;uniqId=282726024-25 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Karyotype''' is an individual's set of chromosomes, both their number and appearance.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Meiosis''' is the specific process of cell division within sex cells which halves the number of chromosomes in the cells through via two cell divisions; this is specific to germ cells only, creating haploid gametes (sex cells) from diploid cells. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
'''Monosomy''' is a condition wherein a specific chromosome is completely missing within one gamete that combines with a normal gamete to form a zygote; a chromosome has no homologue, or matching chromosome, to pair with. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6--sec15&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208595822&amp;amp;uniqId=283289096-8#4-u1.0-B978-0-443-06811-9..10001-6--sec41&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Mosaicism''' is when a particular type or all cells of an individual do not have the same genetic makeup. This is caused by a mutation during embryonic cell division.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Nondisjunction''' is the failure of chromosome pairs to separate entirely during either stage of Meiosis. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec27&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--spara33&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Oligohydramnios''' is a prenatal condition, where there is an insufficient amount of amniotic fluid.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Polyhydramnios''' is a prenatal condition, where there is an excessive amount of amniotic fluid.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Random assortment'''&lt;br /&gt;
&lt;br /&gt;
'''Recombination''' is the process which by genetic material is crossed over and switched between two segments of DNA which adds to the genetic diversity of the genome.&lt;br /&gt;
&lt;br /&gt;
'''SHOX gene''' is the short stature homeobox gene, that when deficient frequently results in short stature.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Sister chromatids'''&lt;br /&gt;
&lt;br /&gt;
'''Ultrasonography''' is a medical technique that employs ultrasound frequencies to visualise a patient's internal bodily structure.&amp;lt;ref&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== References ==&lt;br /&gt;
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&amp;lt;references/&amp;gt;&lt;br /&gt;
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{{2011Projects}}&lt;/div&gt;</summary>
		<author><name>Z3217043</name></author>
	</entry>
	<entry>
		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=73741</id>
		<title>2011 Group Project 1</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=73741"/>
		<updated>2011-09-30T09:26:56Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: &lt;/p&gt;
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&lt;div&gt;{{2011ProjectsMH}}&lt;br /&gt;
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== Turner Syndrome ==&lt;br /&gt;
&lt;br /&gt;
--[[User:S8600021|Mark Hill]] 10:44, 8 September 2011 (EST) Some of the existing sub-sections have appropriate content, but there are also empty sub-sections, a total lack of referencing/citation and no glossary. &lt;br /&gt;
* The referencing issue needs urgent  progress.&lt;br /&gt;
* Existing figures/table are appropriate. Table appears to be directly used from an uncited source.&lt;br /&gt;
* There needs to be more images in this work.&lt;br /&gt;
* Where is the student drawn figure?&lt;br /&gt;
* Read http://embryology.med.unsw.edu.au/embryology/index.php?title=Help:Reference_Tutorial#Multiple%20Instances%20on%20Page&lt;br /&gt;
&lt;br /&gt;
== Introduction ==&lt;br /&gt;
&lt;br /&gt;
Turner syndrome, named after Henry Hubert Turner who first described the syndrome in his paper in 1938,&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;4557013&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; is one of the most commonly occuring chromosomal disorders. It is caused by complete or partial X monosomy in some or all cells and occurs in approximately 1 in 2000 live female births, however the morbidity rate of spontaneous abortions is 10% and only about 1% of fetuses survive to term. &lt;br /&gt;
&lt;br /&gt;
During normal fetal development, each ovary contain as many as 7 million oocytes. The oocytes gradually reduced to 400,000 during menarche and during menopause fewer than 10,000 remains. However, in Turner syndrome, the ovaries develop normally during embryogenesis but the absence of the second X chromosome leads to an accelerated loss of oocytes, which is complete by the time the infant, is aged 2. Genetically menopause occurs before menarche and the ovaries are reduced to atrophic fibrous strands, devoid of ova and follicles (streak ovaries). Development of somatic (nongonadal) tissues that reside on the missing/abnormal X chromosome are also severely affected. For example short stature is caused by a deletion of the Xp chromosome and the deletion of Xq causes gonadal dysfunction &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt; 6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
 &lt;br /&gt;
The most frequent clinical feature is short stature and gonadal dysgenesis. Other features may include coarctation of the aorta, renal anomalies, neck webbing, and lymphoedema. The affected organ systems and tissues may are effected to a lesser or greater extent amongst that are affected by turner syndrome. Each person who has turner syndrome all vary in their clinical phenotype. In recent years there has been increased interest in Turner Syndrome due to the introduction of growth hormone treatment. There has been marked improvement in the understanding of this condition as advances in molecular genetic techniques occur. However, there still further research to be completed. A multidisciplinary approach to treatment is important to improve the quality of life of girls with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
 &lt;br /&gt;
[[File:Karyotype.jpg|200px|thumb|left|The arrow indicates the presence of only one X chromosome in Karyotype]]&lt;br /&gt;
&lt;br /&gt;
== Epidemiology ==&lt;br /&gt;
&lt;br /&gt;
Turner Syndrome affects about 1 in 2000 live-born females. There are three types of karyotypic abnormalities but the most frequently seen is where the entire X chromosome is missing resulting in 45 X karyotype. The remaining third have structural abnormalities of the X chromosomes, and two thirds are mosaics. Whereby, the maternal X is retained in two-thirds of women and the paternal X in the remainder.&lt;br /&gt;
The phenotype of Turner Syndrome is varies but it involves anomalies of the sex chromosome. It could be caused by the limited amount of genetic material in these abnormal chromosomes. Turner Syndrome can be transmitted from mother to daughter, and thus can it could be described as a heredity linked syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The loss of one of the sex chromosomes of turner syndrome occurs after the zygote has formed or just after the fusion of the gametes. In 70-80% of cases the retained X is from the mother. In such circumstances has lead to the different phenotypic expression of the genes present on the X chromosome depending upon if it came from the mother or father. &lt;br /&gt;
The morphological differences from those retaining the maternal compared to retaining the paternal X is have shown to have a greater incidence of cardiovascular anomalies and neck webbing. &lt;br /&gt;
The missing sex chromosome could be either an X or a Y. This has clinical implications because if the Y material is present there is a risk of up to 30% of gonadoblastoma developing in the dysgenetic gonads. This is because the 'gonadoblastoma locus' is on the Y chromosome which is believed to be situated on the long arm of the Y just below the centromere.&lt;br /&gt;
Another factor affecting the phenotype in Turner syndrome is the inactivation of the abnormal X chromosomes. In a normal fetus there should be only one X chromosome that is active in each cell &amp;lt;ref&amp;gt;Wade, Nicholas (2009-09-15). '''&amp;quot;New Clues to Sex Anomalies in How Y Chromosomes Are Copied&amp;quot;'''. The New York Times. Retrieved 2010-05-26. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1511250/?page=2&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
[[File:Stats abnormal.jpg]]  &lt;br /&gt;
&lt;br /&gt;
Abnormalities associated with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Etiology ==&lt;br /&gt;
[[File:nondisjunction.jpg|850px|thumb|right|alt text|This figure shows the progeny created from normal disjunction (A), and non-disjunction during both Meiosis I (B) and Meiosis II (C).]]&lt;br /&gt;
&lt;br /&gt;
Causation of Turner Syndrome (TS) can be traced back to the stages of sex-cell development.  When sex cells divide through a process called [[#Glossary | '''meiosis''']] to create [[#Glossary | '''gametes''']], either a [[#Glossary | '''haploid''']] egg (for females) or sperm (for males) two divisions occur, Meiosis I and Meiosis II.  Meiosis is the main process which helps create the vast genetic diversity within all populations by allowing [[#Glossary | '''recombination''']] and [[#Glossary | '''random assortment''']].  During Meiosis I [[#Glossary | '''homologous chromosomes''']] are separated; following Meiosis I, [[#Glossary | '''sister chromatids''']] separate during Meiosis II.  If during either stage of Meiosis I or II the homologous chromosomes or sister chromatids, respectively, do not fully separate, a phenomenon can occur called [[#Glossary | '''nondisjunction''']].  Nondisjunction causes an uneven distribution of genetic material to each daughter nuclei.  When an uneven distribution is such that one of the gametes does not have any of a chromosome, it can combine with another normal gamete to create a fertilized egg with only one chromosome as opposed to the normal two that are found in human cells; this is called a [[#Glossary | '''monosomy''']].  When this occurs in the sex chromosomes leaving only a single X chromosome (X0 genotype) Turner Syndrome is created, leaving only 45 chromosomes in the zygote rather than the normal 46.  &lt;br /&gt;
&lt;br /&gt;
[[File:22+23=45.jpg|350px|thumb|left|22 chromosomal egg + 23 chromosomal sperm = 45 chromsomes in zygote instead of normal 46.]]&lt;br /&gt;
Turner Syndrome can also be created by partial monosomy or disjunctions, meaning that although a whole X chromosome is not missing, portions of it are not present or are non-functional, rendering the chromosome useless.  Any disjunction seems to be completely sporadic and have yet to be attributed to any genetic link. The only thing known for sure is that during conception a portion of or the whole second sex chromosome is not conveyed to the zygote.&amp;lt;ref&amp;gt;http://www.nytimes.com/2009/09/15/science/15chrom.html?pagewanted=1&amp;amp;_r=1&amp;amp;hpw&amp;lt;/ref&amp;gt; Because at least one X chromosome is necessary for vital functions, this condition can only be found in females.&lt;br /&gt;
&lt;br /&gt;
== Clinical Manifestations ==&lt;br /&gt;
&lt;br /&gt;
The following are a list of characteristics and diseases which tend to accompany, be caused by, or be related to Turner Syndrome.  &lt;br /&gt;
&lt;br /&gt;
===Physical Attributes:===&lt;br /&gt;
*congenital malformations (heart, urinary system, face, neck, ears) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*gonadal dysgenesis (causes estrogen deficiencies, which can cause infertility) &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*increased risk of fractures &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16624607&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low cortical bone mineral density (BMD) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16624607&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*middle ear infections &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*premature ovarian failure &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*short/reduced stature &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*webbed neck &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Decreased Cognition:===&lt;br /&gt;
*emotion processing difficulties &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC3114458&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*increased impulsivity &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2742423&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low IQ score &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2742423&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*nonverbal learning disability (slow math calculations) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC3114458&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*social cognition difficulties &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC3114458&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*visuoperception/visuoconstruction deficit (identifying and locating is difficult due to poor visual working memory) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2742423&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Increased Risk of:===&lt;br /&gt;
*cirrhosis of the liver &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*colon and rectal cancers &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*hypothyroidism &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*inflammatory bowel disease &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*morbidity and mortality &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*neurovascular disease &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*osteoporosis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*ovarian failure &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*renal and gastrointestinal disease &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Prone to Develop Autoimmune Conditions:=== &lt;br /&gt;
*alopecia areata &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coeliac disease (CD) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12466343&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*psoriasis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*thyroiditis &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
*type 1 diabetes &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Cardiac Abnormalities:===&lt;br /&gt;
(most serious/life threatening medical problems created by Turner Syndrome)&lt;br /&gt;
*absence of portal vein &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16612647&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*aortic dilatation and dissection  &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*arrhythmias &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;17015510&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*arteriosclerosis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*biscuspid aortic valves &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coarctation of the aorta &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*hypertension &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*ischemic heart disease &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*mitral valve prolapsed &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== Diagnostic Procedures ==&lt;br /&gt;
&lt;br /&gt;
===Diagnostic Definition===&lt;br /&gt;
&lt;br /&gt;
[[File:Turner Syndrome X Chromosome Variations.jpg|thumb|right|Variations of the Second X Chromosome in Turner Syndrome]]&lt;br /&gt;
Turner syndrome is diagnosed through both an evaluation of physical features and by analysis of the second sex chromosome. The two criteria must be met for classification of Turner syndrome, an abnormality in the second sex chromosome must be found and the abnormality must be found to be expressed somehow in the individual's traits. Hence if physical characteristics are not present even when the cytogenetic criterion is met the patient is not diagnosed as having Turner syndrome.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; In Turner syndrome the second sex chromosome is either:&lt;br /&gt;
&lt;br /&gt;
*Completely absent (45,X)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Partially absent&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Forms an isochromosome (isoXq), possessing a long arm duplication (q) and being devoid of a short arm (p)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*In a ring formation (rX)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Is devoid of the homeobox gene, [[#Glossary | '''SHOX''']] (short stature homeobox), the deletion being prior to the junction between Xp22.2 and Xp22.3&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
Any of these variations of the second sex chromosome may occur with or without cell line [[#Glossary | '''mosaicism''']].&lt;br /&gt;
Turner syndrome may be diagnosed prenatally or postnatally, using this genetic diagnostic definition coupled with an appropriate phenotypic evaluation of the individual, as outlined below.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Prenatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
The prenatal diagnostic tool for Turner syndrome is karyotype screening and testing for phenotype abnormalities. If Turner syndrome is diagnosed prenatally, karyotype screening and an evaluation of the individual's traits should be conducted again postnatally for confirmation of this diagnosis. Turner syndrome is frequently diagnosed after karyotype screening during [[#Glossary | '''chorionic villous sampling''']] or [[#Glossary | '''amniocentesis''']].&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
The table below outlines various prenatal tests conducted and the indications that may be present in babies with Turner syndrome. Although these techniques and the indications they reveal may highlight Turner syndrome signs, they should not be used as sole diagnostic tools.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Technique'''&lt;br /&gt;
| '''Turner syndrome indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Ultrasound'''&lt;br /&gt;
|&lt;br /&gt;
*Increased nuchal translucency &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Cystic hygroma''']] &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Coarctation''']] of the aorta &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Left-sided cardiac defects &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Brachycephaly''']] &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Renal anomalies &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Polyhydramnios''']] &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Oligohydramnios''']] &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Growth retardation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;10599686&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Turner Syndrome Test Showing Nuchal Translucency.gif|none|thumb|400px|Figure 2: Ultrasound Test Showing Nuchal Translucency.]]&lt;br /&gt;
[[File:Turner Syndrome Test Showing Cystic Hygroma.gif|none|thumb|400px|Figure 3: Ultrasound Test Showing Cystic Hygroma.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Maternal serum screening'''&lt;br /&gt;
|&lt;br /&gt;
*Abnormal [[#Glossary | '''α-fetoprotein''']] levels &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary | '''inhibin A''']] levels &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary | '''hCG''']] levels &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Abnormal unconjugated [[#Glossary | '''estriol''']] levels &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File: TurnerSyndromeMaternalSerumSampling.jpg|none|thumb|400px|Figure 4: Maternal Serum Sampling.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
===Postnatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
In postnatal diagnosis, [[#Glossary | '''karyotype''']] investigation is undertaken for the individual. When a female presents with the following clinical findings, explained in table below, it is recommended that chromosomal analysis is undertaken, so that Turner syndrome may be eliminated&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;:&lt;br /&gt;
{|sstyle= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Age'''&lt;br /&gt;
| '''Phenotypic manifestations/indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Baby/infant'''&lt;br /&gt;
|&lt;br /&gt;
*Oedema of the hands or feet&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Nuchal folds &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Cardiac abnormalities for example aortic dilation, bicuspid aortic valve and aortic coarctation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Low hairline &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Low set ears &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Small mandible &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Gonadal dysgenesis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Child'''&lt;br /&gt;
| &lt;br /&gt;
*Short stature with low growth velocity &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Cubitus valgus''']] &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Nail [[#Glossary | '''hypoplasia''']] &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Hyperconvex uplifted nails &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Multiple pigmented benign birthmarks/moles &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Characteristic faecies &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Short fourth metacarpal &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*High arched palate &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Extensive and chronic inflammation/infection of the ear &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Hearing loss &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 4 year old child.jpg|left|thumb|150px|Figure 5: Four-year-old girl with Turner's syndrome. Note somewhat broad chest, prominent ears and ptosis, but otherwise normal proportion. There is no pronounced neck webbing or edema.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Adolescent/Adult'''&lt;br /&gt;
|&lt;br /&gt;
*Absence of breast development by 13 yr of age &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Pubertal arrest &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Primary or secondary amenorrhoea&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Unexplained short stature &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Renal abnormalities &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Immune disorders &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 35 year old woman.jpg|none|thumb|150px|Figure 6: A Thirtyfive-year-old woman with Turner's syndrome. Note increased carrying angle of arms, broad flat chest and sexual infantilism, but the lack of pronounced neck webbing or peripheral edema.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Since an absence of the physical signs of puberty and/or growth failure are often seen as normal variations in the population, these possible indications/symptoms of Turner syndrome may not be further investigated by many clinicians.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20361125&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; When karyotyping in order to exclude natural cell variation, a sufficient number of cells should be assessed. Whilst a sample of blood will often reveal Turner syndrome, an evaluation of a second tissue sample like the skin is recommend.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
[[#Glossary | '''DNA hybridisation''']] or [[#Glossary | '''fluorescent in situ hybridisation''']] should be conducted using a Y centromeric or short arm probe to detect for any additional Y or X chromosomal material.&lt;br /&gt;
If there is any of the Y chromosome present, this may initiate [[#Glossary | '''gonadoblastoma''']] development, another primary indicator of Turner syndrome. Hence the individual should have both a vaginal [[#Glossary | '''ultrasonograph''']] and colour [[#Glossary | '''Doppler sonograph''']] of their gonads to detect whether any Y chromosome fragments are present. These tests should be repeated regularly to monitor the patient for any malignancy, if a gonadectomy is not undertaken.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== Treatment ==&lt;br /&gt;
&lt;br /&gt;
=== Cardiac Treatment ===&lt;br /&gt;
&lt;br /&gt;
When patients are confirmed with Turner Syndrome, it is necessary to have a full cardiac evaulation including a physical exam and a echocardiogram. If cardiac abnormalities are found, monitoring by a cardiologist is recommended including regular blood pressure checks&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.  Coarctation of the aorta and hypoplastic left heart are quite often very serious issues are need to be dealt with surgically&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
If no abnormalities are found, blood pressure in Turner Syndrome patients is still routinely checked and a follow up cardiac evaulation is recommended for girls around the age of puberty (12-15)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Speech ===&lt;br /&gt;
&lt;br /&gt;
Many Turner Syndrome patients have trouble with their speech. It is necessary for them to be refered to an Ear, Nose and Throat specialist and to a speech therapist to work on improve any speech problems&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Management of Puberty and Growth ===&lt;br /&gt;
The main treatment for growth and pubertal development is Hormone Replacement Therapy. Growth Hormone is adminstered to girls with abnormal growth, resulting in postive growth that is consistent with the expected height of the patient. It is adminstered as early as 2 years of age, but more often in the age group of 9-12 which is in line with the growth spurt that occurs during puberty&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Natural estrogen and progesterone are administered to girls when they reach the age of puberty in early adolescence. The age at which this treatment commences varies between individuals, as does the dosage. The adminsteration of estrogen will begin the process of puberty in girls affected by Turner Syndrome and it is important that this begins around the same time as her peers&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. The use of estrogen is often held off if the patient is also undergoing GH treatment so that maximum growth can be achieved, as estrogen will induce the fusion of the epiphyses and limit longitudinal bone growth&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Around 10% of nonmosaic and 20% of mosaic women with Turner’s will have spontaneous menses (periods) and may not need to undergo Hormone Replacement to initiate puberty. Around 2-5% of these women will have the potential to fall pregnant naturally&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
=== Appearance ===&lt;br /&gt;
&lt;br /&gt;
Extreme neck webbing maybe worrying or uncomfortable to women with Turner’s and in some cases plastic surgery is undertaken to fix this problem. Also if convex gorwth of toenails occurs, surgery is conducted so that the woman can wear normal shoes&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Ongoing Adult Treatment ===&lt;br /&gt;
&lt;br /&gt;
Closely monitoring the health of Turner Syndrome adults is vital in the reduction of morbidity and mortality. An annual physical evalution should be undertaken which includes, blood pressure, heart auscultation, thyroid function, breast exam, and pap smear&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.  &lt;br /&gt;
&lt;br /&gt;
Particular attention needs to be taken in the area of weight and obesity in Turner Syndrome women due to their high risk of developing diabetes, osteoporosis and hypertension. Patients are to be encouraged to have a healthy lifestyle including healthy eating and exercise&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Research ==&lt;br /&gt;
&lt;br /&gt;
===Current research===&lt;br /&gt;
&lt;br /&gt;
Since there is no preventative or cure, currently mainly research is being conducted into the areas of symptoms, possible treatments and risks involved with Turner syndrome.&lt;br /&gt;
&lt;br /&gt;
'''Growth hormone therapy in Turner syndrome: its affect on height, weight and stature.'''&lt;br /&gt;
*'''Growth hormone effect on body composition in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21720878&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research findings from this paper conclude that people with Turner syndrome have lower height, higher BMI and higher proportional sitting height and leg length than that of the normal population, no matter whether they undergo hormone replacement therapy or not.&lt;br /&gt;
*'''Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21619701&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study has concluded that all adults with Turner syndrome had a similar quality of life regardless of whether they have a higher stature due to undergoing growth hormone replacement therapy or not. It was hypothesised that height differences did not affect quality of life as the individuals seemed to adapt to their own life challenges.&lt;br /&gt;
*'''Growth hormone treatment for Turner syndrome in Australia reveals that younger age and increased dose interact to improve response.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21375553&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research from this study found that growth hormone therapy works most optimally if given earlier in life and at a high dose in the first year of treatment.&lt;br /&gt;
*'''Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21398400&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: Another study which confers that the early introduction of growth hormone therapy is most efficacious. However the individual's glucose metabolism should be monitored as the hormones may affect glucose tolerance transiently.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Oestrogen hormone replacement therapy in Turner syndrome: the adequate dosage and its effect on uterine development, breast development, bone mineral density and sexual characteristics.'''&lt;br /&gt;
*'''Growth hormone plus childhood low-dose estrogen in Turner's syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21449786&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study indicates that undergoing both growth hormone and oestrogen therapy together may help increase the efficacy of each (increasing growth in height and pubertal development) more than when they act alone. &lt;br /&gt;
*'''Estrogen requirements in girls with Turner syndrome; how low is enough for initiating puberty and uterine development?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21793702&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study assessed the minimal dosage of estrogen that is required to bring about desired pubertal development in girls with Turner syndrome.&lt;br /&gt;
*'''Puberty induction in Turner syndrome: results of oestrogen treatment on development of secondary sexual characteristics, uterine dimensions and serum hormone levels.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19200215&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: It was found that uterus of women with Turner syndrome who had undergone oestrogen was underdeveloped, however the exact cause of this needs to be further researched.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Pregnancy and Turner syndrome: evaluation and treatment of risks involved with pregnancy for: the mothers of Turner syndrome babies, for individuals with Turner syndrome and for the babies of individuals with Turner syndrome.'''&lt;br /&gt;
*'''Familial occurrence of Turner syndrome: casual event or increased risk?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21648298&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research examined whether there is a higher probability of having a second child with Turner syndrome and concluded that there is evidence in the small cohort that they used of a greater probability. It is suggested that a larger study be conducted to look further into these findings.that &lt;br /&gt;
*'''Obstetric Outcomes in Women with Turner Karyotype.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21865365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: In this study it was found that women with Turner syndrome had shorter pregnancies than that of a control group, but no other marked difference was observed between the groups.&lt;br /&gt;
*'''Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21496813&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This paper examined a number of pregnant women with Turner syndrome, some who incidentally went through puberty even though they had no hormone replacement therapy and another group that had undertaken hormone replacement therapy. Though there were not many complications in either group, the groups were small in number and one mother did have cardiovascular difficulties later on in life. Hence a thorough examination of pregnant Turner syndrome women should be conducted prior to conception.&lt;br /&gt;
*'''Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20923275&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This article assessed the prognosis of pregnant women with Turner syndrome. They concluded that spontaneous pregnancy increases the risk of the baby having phenotypic and chromosomal abnormalities compared with women having assisted reproductive therapies.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Future research=== &lt;br /&gt;
&lt;br /&gt;
Future research needs to be conducted in the following areas: to follow up on the suggestions given in the conclusions of current research papers as outlined in the prior section and also into how the care system is functioning for Turner syndrome individuals as outlined below.&lt;br /&gt;
&lt;br /&gt;
*'''Medical Care of Girls with Turner Syndrome: Where are we Lacking?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21454226&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research found that a large proportion (&amp;gt;50%) of people with Turner syndrome are not given adequate information upon diagnosis or screenings for complications and symptoms. Therefore it is suggested in order to rectify this issue that more education should be given to physicians on the syndrome&lt;br /&gt;
*'''Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21752892&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; and '''Turner's syndrome requires multidisciplinary approach.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19514616&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: These article evaluate the need for a multidisciplinary approach to treatment of Turner syndrome. Since the symptoms can be wide ranging and severe, it is difficult but necessary for all of them to be examined in each individual. Hence a greater care plan for individuals should be implemented upon diagnosis.&lt;br /&gt;
&lt;br /&gt;
== Glossary ==&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Alpha-fetoprotein''' is a protein with an unknown function. It makes up, up to one third of the protein serum levels found in the second trimester of pregnancy and in neural tube defects, these alpha-fetoprotein levels are elevated. &amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Amniocentesis''' is a prenatal diagnostic tool. The procedure involves the sampling of amniotic fluid from the amniotic sac using a syringe, that is then tested for a number of abnormalities. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Brachycephaly''' is a condition where the coronal suture of the skull fuses prematurely. Since the skull is unable to expand any further in the anterior-posterior directions due to this closure, it grows to an abnormal size in in the lateral dimension.&amp;lt;ref&amp;gt;Flint, P 2010, ''Flint: Cummings Otolaryngology: Head &amp;amp; Neck Surgery, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-323-05283-2..00186-5--s0045&amp;amp;isbn=978-0-323-05283-2&amp;amp;uniqId=282726024-5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Coarctation''' of the aorta is an abnormality where the aorta is constricted at one or various sections. This can be caused by genetic and/or environmental factors.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Chorionic villous sampling''' is a prenatal diagnostic tool which can be used from 7 weeks after fertilisation. It is used to test for a number of chromosomal abnormalities including X-linked and metabolic disorders.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Cystic hygroma''' is a prenatal abnormality where fluid builds up in the posterior portion of the neck. The body may or may not relieve itself naturally of this accumulation of fluid after birth. &amp;lt;ref&amp;gt;Gabbe, S 2007, ''Gabbe: Obstetrics: Normal and Problem Pregnancies, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-443-06930-7..50011-6--cesec51&amp;amp;isbn=978-0-443-06930-7&amp;amp;uniqId=282726024-10&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''DNA-DNA hybridisation''' is a technique used to compare the similarities and differences between two sets of genes.&amp;lt;ref&amp;gt;Long, S 2009, ''Bradley: Neurology in Clinical Practice, 5th ed.Long: Principles and Practice of Pediatric Infectious Diseases Revised Reprint, 3rd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X&amp;amp;isbn=978-0-7020-3468-8&amp;amp;uniqId=282726024-19#4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Doppler sonography''' uses the doppler effect to help image and measure blood flow pattern in the patient.&amp;lt;ref&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Estriol''' is a hormone that is produced in greater amounts during pregnancy especially in the second and third trimester. One of its main functions is to assist with blood flow in the placenta and uterus.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Gametes''' are reproductive (sex) cells (ie: eggs and sperm) that can unite to form a new cell called a zygote. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6&amp;amp;isbn=978-0-443-06811-9&amp;amp;uniqId=283289096-4#4-u1.0-B978-0-443-06811-9..10001-6--b0020&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Gonadoblastoma''' is an abnormal proliferation of gonadal cells, that may or may not be malignant.&amp;lt;ref&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Haploid''' is the status of a cell having only a single set of unpaired chromosomes, or half the number of chromosomes contained in typical body cells. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10019-3--sec5&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208594256&amp;amp;uniqId=283289096-7#4-u1.0-B978-0-443-06811-9..10019-3--sec5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''hCG''' is the abbreviation for human chorionic gonadotropin. It is a hormone that functions in the early stage of pregnancy to maintain the blood supply to the corpus luteum.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Homologous chromosomes''' are pairs of chromosomes, one each obtained from maternal and paternal gametes.  46 total chromosome complements are within an organism, 22 pairs of which are homologous chromosomes (called autosomes); the other 2 chromosomes are the sex chromosomes. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6--sec7&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208599219&amp;amp;uniqId=283289096-10#4-u1.0-B978-0-443-06811-9..10001-6--sec9&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
'''Hypoplasia''' is when an organ or tissue is not completely developed.&amp;lt;ref&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Inhibin A''' is a peptide produced by the ovaries and acts to restrain the production of follicle-stimulating hormone.&amp;lt;ref&amp;gt;Melmed, S 2011, ''Melmed: Williams Textbook of Endocrinology, 12th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0324-5..00045-6&amp;amp;isbn=978-1-4377-0324-5&amp;amp;uniqId=282726024-25 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Karyotype''' is an individual's set of chromosomes, both their number and appearance.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Meiosis''' is the specific process of cell division within sex cells which halves the number of chromosomes in the cells through via two cell divisions; this is specific to germ cells only, creating haploid gametes (sex cells) from diploid cells. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
'''Monosomy''' is a condition wherein a specific chromosome is completely missing within one gamete that combines with a normal gamete to form a zygote; a chromosome has no homologue, or matching chromosome, to pair with. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6--sec15&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208595822&amp;amp;uniqId=283289096-8#4-u1.0-B978-0-443-06811-9..10001-6--sec41&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Mosaicism''' is when a particular type or all cells of an individual do not have the same genetic makeup. This is caused by a mutation during embryonic cell division.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Nondisjunction''' is the failure of chromosome pairs to separate entirely during either stage of Meiosis. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec27&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--spara33&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Oligohydramnios''' is a prenatal condition, where there is an insufficient amount of amniotic fluid.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Polyhydramnios''' is a prenatal condition, where there is an excessive amount of amniotic fluid.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Random assortment'''&lt;br /&gt;
&lt;br /&gt;
'''Recombination''' is the process which by genetic material is crossed over and switched between two segments of DNA which adds to the genetic diversity of the genome.&lt;br /&gt;
&lt;br /&gt;
'''SHOX gene''' is the short stature homeobox gene, that when deficient frequently results in short stature.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Sister chromatids'''&lt;br /&gt;
&lt;br /&gt;
'''Ultrasonography''' is a medical technique that employs ultrasound frequencies to visualise a patient's internal bodily structure.&amp;lt;ref&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== References ==&lt;br /&gt;
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		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=73726</id>
		<title>2011 Group Project 1</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=73726"/>
		<updated>2011-09-30T09:16:32Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: &lt;/p&gt;
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== Turner Syndrome ==&lt;br /&gt;
&lt;br /&gt;
--[[User:S8600021|Mark Hill]] 10:44, 8 September 2011 (EST) Some of the existing sub-sections have appropriate content, but there are also empty sub-sections, a total lack of referencing/citation and no glossary. &lt;br /&gt;
* The referencing issue needs urgent  progress.&lt;br /&gt;
* Existing figures/table are appropriate. Table appears to be directly used from an uncited source.&lt;br /&gt;
* There needs to be more images in this work.&lt;br /&gt;
* Where is the student drawn figure?&lt;br /&gt;
* Read http://embryology.med.unsw.edu.au/embryology/index.php?title=Help:Reference_Tutorial#Multiple%20Instances%20on%20Page&lt;br /&gt;
&lt;br /&gt;
== Introduction ==&lt;br /&gt;
&lt;br /&gt;
Turner syndrome, named after Henry Hubert Turner who first described the syndrome in his paper in 1938,&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;4557013&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; is one of the most commonly occuring chromosomal disorders. It is caused by complete or partial X monosomy in some or all cells and occurs in approximately 1 in 2000 live female births, however the morbidity rate of spontaneous abortions is 10% and only about 1% of fetuses survive to term. &lt;br /&gt;
&lt;br /&gt;
During normal fetal development, each ovary contain as many as 7 million oocytes. The oocytes gradually reduced to 400,000 during menarche and during menopause fewer than 10,000 remains. However, in Turner syndrome, the ovaries develop normally during embryogenesis but the absence of the second X chromosome leads to an accelerated loss of oocytes, which is complete by the time the infant, is aged 2. Genetically menopause occurs before menarche and the ovaries are reduced to atrophic fibrous strands, devoid of ova and follicles (streak ovaries). Development of somatic (nongonadal) tissues that reside on the missing/abnormal X chromosome are also severely affected. For example short stature is caused by a deletion of the Xp chromosome and the deletion of Xq causes gonadal dysfunction &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt; 6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
 &lt;br /&gt;
The most frequent clinical feature is short stature and gonadal dysgenesis. Other features may include coarctation of the aorta, renal anomalies, neck webbing, and lymphoedema. The affected organ systems and tissues may are effected to a lesser or greater extent amongst that are affected by turner syndrome. Each person who has turner syndrome all vary in their clinical phenotype. In recent years there has been increased interest in Turner Syndrome due to the introduction of growth hormone treatment. There has been marked improvement in the understanding of this condition as advances in molecular genetic techniques occur. However, there still further research to be completed. A multidisciplinary approach to treatment is important to improve the quality of life of girls with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
 &lt;br /&gt;
[[File:Karyotype.jpg|200px|thumb|left|The arrow indicates the presence of only one X chromosome in Karyotype]]&lt;br /&gt;
&lt;br /&gt;
== Epidemiology ==&lt;br /&gt;
&lt;br /&gt;
Turner Syndrome affects about 1 in 2000 live-born females. There are three types of karyotypic abnormalities but the most frequently seen is where the entire X chromosome is missing resulting in 45 X karyotype. The remaining third have structural abnormalities of the X chromosomes, and two thirds are mosaics. Whereby, the maternal X is retained in two-thirds of women and the paternal X in the remainder.&lt;br /&gt;
The phenotype of Turner Syndrome is varies but it involves anomalies of the sex chromosome. It could be caused by the limited amount of genetic material in these abnormal chromosomes. Turner Syndrome can be transmitted from mother to daughter, and thus can it could be described as a heredity linked syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The loss of one of the sex chromosomes of turner syndrome occurs after the zygote has formed or just after the fusion of the gametes. In 70-80% of cases the retained X is from the mother. In such circumstances has lead to the different phenotypic expression of the genes present on the X chromosome depending upon if it came from the mother or father. &lt;br /&gt;
The morphological differences from those retaining the maternal compared to retaining the paternal X is have shown to have a greater incidence of cardiovascular anomalies and neck webbing. &lt;br /&gt;
The missing sex chromosome could be either an X or a Y. This has clinical implications because if the Y material is present there is a risk of up to 30% of gonadoblastoma developing in the dysgenetic gonads. This is because the 'gonadoblastoma locus' is on the Y chromosome which is believed to be situated on the long arm of the Y just below the centromere.&lt;br /&gt;
Another factor affecting the phenotype in Turner syndrome is the inactivation of the abnormal X chromosomes. In a normal fetus there should be only one X chromosome that is active in each cell &amp;lt;ref&amp;gt;Wade, Nicholas (2009-09-15). '''&amp;quot;New Clues to Sex Anomalies in How Y Chromosomes Are Copied&amp;quot;'''. The New York Times. Retrieved 2010-05-26. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1511250/?page=2&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
[[File:Stats abnormal.jpg]]  &lt;br /&gt;
&lt;br /&gt;
Abnormalities associated with Turner Syndrome &amp;lt;ref name=&amp;quot;PMID16544046&amp;quot;/&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Etiology ==&lt;br /&gt;
[[File:nondisjunction.jpg|850px|thumb|right|alt text|This figure shows the progeny created from normal disjunction (A), and non-disjunction during both Meiosis I (B) and Meiosis II (C).]]&lt;br /&gt;
&lt;br /&gt;
Causation of Turner Syndrome (TS) can be traced back to the stages of sex-cell development.  When sex cells divide through a process called [[#Glossary | '''meiosis''']] to create [[#Glossary | '''gametes''']], either a [[#Glossary | '''haploid''']] egg (for females) or sperm (for males) two divisions occur, Meiosis I and Meiosis II.  Meiosis is the main process which helps create the vast genetic diversity within all populations by allowing [[#Glossary | '''recombination''']] and [[#Glossary | '''random assortment''']].  During Meiosis I [[#Glossary | '''homologous chromosomes''']] are separated; following Meiosis I, [[#Glossary | '''sister chromatids''']] separate during Meiosis II.  If during either stage of Meiosis I or II the homologous chromosomes or sister chromatids, respectively, do not fully separate, a phenomenon can occur called [[#Glossary | '''nondisjunction''']].  Nondisjunction causes an uneven distribution of genetic material to each daughter nuclei.  When an uneven distribution is such that one of the gametes does not have any of a chromosome, it can combine with another normal gamete to create a fertilized egg with only one chromosome as opposed to the normal two that are found in human cells; this is called a [[#Glossary | '''monosomy''']].  When this occurs in the sex chromosomes leaving only a single X chromosome (X0 genotype) Turner Syndrome is created, leaving only 45 chromosomes in the zygote rather than the normal 46.  &lt;br /&gt;
&lt;br /&gt;
[[File:22+23=45.jpg|350px|thumb|left|22 chromosomal egg + 23 chromosomal sperm = 45 chromsomes in zygote instead of normal 46.]]&lt;br /&gt;
Turner Syndrome can also be created by partial monosomy or disjunctions, meaning that although a whole X chromosome is not missing, portions of it are not present or are non-functional, rendering the chromosome useless.  Any disjunction seems to be completely sporadic and have yet to be attributed to any genetic link. The only thing known for sure is that during conception a portion of or the whole second sex chromosome is not conveyed to the zygote.&amp;lt;ref&amp;gt;http://www.nytimes.com/2009/09/15/science/15chrom.html?pagewanted=1&amp;amp;_r=1&amp;amp;hpw&amp;lt;/ref&amp;gt; Because at least one X chromosome is necessary for vital functions, this condition can only be found in females.&lt;br /&gt;
&lt;br /&gt;
== Clinical Manifestations ==&lt;br /&gt;
&lt;br /&gt;
The following are a list of characteristics and diseases which tend to accompany, be caused by, or be related to Turner Syndrome.  &lt;br /&gt;
&lt;br /&gt;
===Physical Attributes:===&lt;br /&gt;
*congenital malformations (heart, urinary system, face, neck, ears) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*gonadal dysgenesis (causes estrogen deficiencies, which can cause infertility) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;15588233&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*increased risk of fractures &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16624607&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low cortical bone mineral density (BMD) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16624607&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*middle ear infections &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*premature ovarian failure &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;15588233&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*short/reduced stature &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;15588233&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*webbed neck &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Decreased Cognition:===&lt;br /&gt;
*emotion processing difficulties &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC3114458&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*increased impulsivity &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2742423&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low IQ score &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2742423&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*nonverbal learning disability (slow math calculations) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC3114458&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*social cognition difficulties &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC3114458&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*visuoperception/visuoconstruction deficit (identifying and locating is difficult due to poor visual working memory) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2742423&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Increased Risk of:===&lt;br /&gt;
*cirrhosis of the liver &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*colon and rectal cancers &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*hypothyroidism &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*inflammatory bowel disease &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*morbidity and mortality &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;15588233&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*neurovascular disease &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*osteoporosis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*ovarian failure &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*renal and gastrointestinal disease &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Prone to Develop Autoimmune Conditions:=== &lt;br /&gt;
*alopecia areata &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coeliac disease (CD) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12466343&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*psoriasis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*thyroiditis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;15588233&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*type 1 diabetes &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;15588233&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Cardiac Abnormalities:===&lt;br /&gt;
(most serious/life threatening medical problems created by Turner Syndrome)&lt;br /&gt;
*absence of portal vein &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16612647&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*aortic dilatation and dissection  &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*arrhythmias &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;17015510&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*arteriosclerosis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*biscuspid aortic valves &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coarctation of the aorta &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*hypertension &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*ischemic heart disease &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*mitral valve prolapsed &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== Diagnostic Procedures ==&lt;br /&gt;
&lt;br /&gt;
===Diagnostic Definition===&lt;br /&gt;
&lt;br /&gt;
[[File:Turner Syndrome X Chromosome Variations.jpg|thumb|right|Variations of the Second X Chromosome in Turner Syndrome]]&lt;br /&gt;
Turner syndrome is diagnosed through both an evaluation of physical features and by analysis of the second sex chromosome. The two criteria must be met for classification of Turner syndrome, an abnormality in the second sex chromosome must be found and the abnormality must be found to be expressed somehow in the individual's traits. Hence if physical characteristics are not present even when the cytogenetic criterion is met the patient is not diagnosed as having Turner syndrome.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; In Turner syndrome the second sex chromosome is either:&lt;br /&gt;
&lt;br /&gt;
*Completely absent (45,X)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Partially absent&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Forms an isochromosome (isoXq), possessing a long arm duplication (q) and being devoid of a short arm (p)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*In a ring formation (rX)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Is devoid of the homeobox gene, [[#Glossary | '''SHOX''']] (short stature homeobox), the deletion being prior to the junction between Xp22.2 and Xp22.3&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
Any of these variations of the second sex chromosome may occur with or without cell line [[#Glossary | '''mosaicism''']].&lt;br /&gt;
Turner syndrome may be diagnosed prenatally or postnatally, using this genetic diagnostic definition coupled with an appropriate phenotypic evaluation of the individual, as outlined below.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Prenatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
The prenatal diagnostic tool for Turner syndrome is karyotype screening and testing for phenotype abnormalities. If Turner syndrome is diagnosed prenatally, karyotype screening and an evaluation of the individual's traits should be conducted again postnatally for confirmation of this diagnosis. Turner syndrome is frequently diagnosed after karyotype screening during [[#Glossary | '''chorionic villous sampling''']] or [[#Glossary | '''amniocentesis''']].&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
The table below outlines various prenatal tests conducted and the indications that may be present in babies with Turner syndrome. Although these techniques and the indications they reveal may highlight Turner syndrome signs, they should not be used as sole diagnostic tools.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Technique'''&lt;br /&gt;
| '''Turner syndrome indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Ultrasound'''&lt;br /&gt;
|&lt;br /&gt;
*Increased nuchal translucency &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Cystic hygroma''']] &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Coarctation''']] of the aorta &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Left-sided cardiac defects &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Brachycephaly''']] &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Renal anomalies &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Polyhydramnios''']] &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Oligohydramnios''']] &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Growth retardation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;10599686&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Turner Syndrome Test Showing Nuchal Translucency.gif|none|thumb|400px|Figure 2: Ultrasound Test Showing Nuchal Translucency.]]&lt;br /&gt;
[[File:Turner Syndrome Test Showing Cystic Hygroma.gif|none|thumb|400px|Figure 3: Ultrasound Test Showing Cystic Hygroma.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Maternal serum screening'''&lt;br /&gt;
|&lt;br /&gt;
*Abnormal [[#Glossary | '''α-fetoprotein''']] levels &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary | '''inhibin A''']] levels &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary | '''hCG''']] levels &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Abnormal unconjugated [[#Glossary | '''estriol''']] levels &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File: TurnerSyndromeMaternalSerumSampling.jpg|none|thumb|400px|Figure 4: Maternal Serum Sampling.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
===Postnatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
In postnatal diagnosis, [[#Glossary | '''karyotype''']] investigation is undertaken for the individual. When a female presents with the following clinical findings, explained in table below, it is recommended that chromosomal analysis is undertaken, so that Turner syndrome may be eliminated&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;:&lt;br /&gt;
{|sstyle= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Age'''&lt;br /&gt;
| '''Phenotypic manifestations/indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Baby/infant'''&lt;br /&gt;
|&lt;br /&gt;
*Oedema of the hands or feet&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Nuchal folds &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Cardiac abnormalities for example aortic dilation, bicuspid aortic valve and aortic coarctation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Low hairline &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Low set ears &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Small mandible &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Gonadal dysgenesis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Child'''&lt;br /&gt;
| &lt;br /&gt;
*Short stature with low growth velocity &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Cubitus valgus''']] &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Nail [[#Glossary | '''hypoplasia''']] &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Hyperconvex uplifted nails &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Multiple pigmented benign birthmarks/moles &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Characteristic faecies &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Short fourth metacarpal &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*High arched palate &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Extensive and chronic inflammation/infection of the ear &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Hearing loss &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 4 year old child.jpg|left|thumb|150px|Figure 5: Four-year-old girl with Turner's syndrome. Note somewhat broad chest, prominent ears and ptosis, but otherwise normal proportion. There is no pronounced neck webbing or edema.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Adolescent/Adult'''&lt;br /&gt;
|&lt;br /&gt;
*Absence of breast development by 13 yr of age &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Pubertal arrest &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Primary or secondary amenorrhoea&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Unexplained short stature &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Renal abnormalities &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Immune disorders &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 35 year old woman.jpg|none|thumb|150px|Figure 6: A Thirtyfive-year-old woman with Turner's syndrome. Note increased carrying angle of arms, broad flat chest and sexual infantilism, but the lack of pronounced neck webbing or peripheral edema.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Since an absence of the physical signs of puberty and/or growth failure are often seen as normal variations in the population, these possible indications/symptoms of Turner syndrome may not be further investigated by many clinicians.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20361125&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; When karyotyping in order to exclude natural cell variation, a sufficient number of cells should be assessed. Whilst a sample of blood will often reveal Turner syndrome, an evaluation of a second tissue sample like the skin is recommend.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
[[#Glossary | '''DNA hybridisation''']] or [[#Glossary | '''fluorescent in situ hybridisation''']] should be conducted using a Y centromeric or short arm probe to detect for any additional Y or X chromosomal material.&lt;br /&gt;
If there is any of the Y chromosome present, this may initiate [[#Glossary | '''gonadoblastoma''']] development, another primary indicator of Turner syndrome. Hence the individual should have both a vaginal [[#Glossary | '''ultrasonograph''']] and colour [[#Glossary | '''Doppler sonograph''']] of their gonads to detect whether any Y chromosome fragments are present. These tests should be repeated regularly to monitor the patient for any malignancy, if a gonadectomy is not undertaken.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== Treatment ==&lt;br /&gt;
&lt;br /&gt;
=== Cardiac Treatment ===&lt;br /&gt;
&lt;br /&gt;
When patients are confirmed with Turner Syndrome, it is necessary to have a full cardiac evaulation including a physical exam and a echocardiogram. If cardiac abnormalities are found, monitoring by a cardiologist is recommended including regular blood pressure checks&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.  Coarctation of the aorta and hypoplastic left heart are quite often very serious issues are need to be dealt with surgically&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
If no abnormalities are found, blood pressure in Turner Syndrome patients is still routinely checked and a follow up cardiac evaulation is recommended for girls around the age of puberty (12-15)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Speech ===&lt;br /&gt;
&lt;br /&gt;
Many Turner Syndrome patients have trouble with their speech. It is necessary for them to be refered to an Ear, Nose and Throat specialist and to a speech therapist to work on improve any speech problems&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
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=== Management of Puberty and Growth ===&lt;br /&gt;
The main treatment for growth and pubertal development is Hormone Replacement Therapy. Growth Hormone is adminstered to girls with abnormal growth, resulting in postive growth that is consistent with the expected height of the patient. It is adminstered as early as 2 years of age, but more often in the age group of 9-12 which is in line with the growth spurt that occurs during puberty&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Natural estrogen and progesterone are administered to girls when they reach the age of puberty in early adolescence. The age at which this treatment commences varies between individuals, as does the dosage. The adminsteration of estrogen will begin the process of puberty in girls affected by Turner Syndrome and it is important that this begins around the same time as her peers&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. The use of estrogen is often held off if the patient is also undergoing GH treatment so that maximum growth can be achieved, as estrogen will induce the fusion of the epiphyses and limit longitudinal bone growth&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Around 10% of nonmosaic and 20% of mosaic women with Turner’s will have spontaneous menses (periods) and may not need to undergo Hormone Replacement to initiate puberty. Around 2-5% of these women will have the potential to fall pregnant naturally&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
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=== Appearance ===&lt;br /&gt;
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Extreme neck webbing maybe worrying or uncomfortable to women with Turner’s and in some cases plastic surgery is undertaken to fix this problem. Also if convex gorwth of toenails occurs, surgery is conducted so that the woman can wear normal shoes&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;.&lt;br /&gt;
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=== Ongoing Adult Treatment ===&lt;br /&gt;
&lt;br /&gt;
Closely monitoring the health of Turner Syndrome adults is vital in the reduction of morbidity and mortality. An annual physical evalution should be undertaken which includes, blood pressure, heart auscultation, thyroid function, breast exam, and pap smear&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.  &lt;br /&gt;
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Particular attention needs to be taken in the area of weight and obesity in Turner Syndrome women due to their high risk of developing diabetes, osteoporosis and hypertension. Patients are to be encouraged to have a healthy lifestyle including healthy eating and exercise&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
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== Research ==&lt;br /&gt;
&lt;br /&gt;
===Current research===&lt;br /&gt;
&lt;br /&gt;
Since there is no preventative or cure, currently mainly research is being conducted into the areas of symptoms, possible treatments and risks involved with Turner syndrome.&lt;br /&gt;
&lt;br /&gt;
'''Growth hormone therapy in Turner syndrome: its affect on height, weight and stature.'''&lt;br /&gt;
*'''Growth hormone effect on body composition in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21720878&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research findings from this paper conclude that people with Turner syndrome have lower height, higher BMI and higher proportional sitting height and leg length than that of the normal population, no matter whether they undergo hormone replacement therapy or not.&lt;br /&gt;
*'''Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21619701&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study has concluded that all adults with Turner syndrome had a similar quality of life regardless of whether they have a higher stature due to undergoing growth hormone replacement therapy or not. It was hypothesised that height differences did not affect quality of life as the individuals seemed to adapt to their own life challenges.&lt;br /&gt;
*'''Growth hormone treatment for Turner syndrome in Australia reveals that younger age and increased dose interact to improve response.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21375553&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research from this study found that growth hormone therapy works most optimally if given earlier in life and at a high dose in the first year of treatment.&lt;br /&gt;
*'''Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21398400&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: Another study which confers that the early introduction of growth hormone therapy is most efficacious. However the individual's glucose metabolism should be monitored as the hormones may affect glucose tolerance transiently.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Oestrogen hormone replacement therapy in Turner syndrome: the adequate dosage and its effect on uterine development, breast development, bone mineral density and sexual characteristics.'''&lt;br /&gt;
*'''Growth hormone plus childhood low-dose estrogen in Turner's syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21449786&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study indicates that undergoing both growth hormone and oestrogen therapy together may help increase the efficacy of each (increasing growth in height and pubertal development) more than when they act alone. &lt;br /&gt;
*'''Estrogen requirements in girls with Turner syndrome; how low is enough for initiating puberty and uterine development?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21793702&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study assessed the minimal dosage of estrogen that is required to bring about desired pubertal development in girls with Turner syndrome.&lt;br /&gt;
*'''Puberty induction in Turner syndrome: results of oestrogen treatment on development of secondary sexual characteristics, uterine dimensions and serum hormone levels.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19200215&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: It was found that uterus of women with Turner syndrome who had undergone oestrogen was underdeveloped, however the exact cause of this needs to be further researched.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Pregnancy and Turner syndrome: evaluation and treatment of risks involved with pregnancy for: the mothers of Turner syndrome babies, for individuals with Turner syndrome and for the babies of individuals with Turner syndrome.'''&lt;br /&gt;
*'''Familial occurrence of Turner syndrome: casual event or increased risk?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21648298&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research examined whether there is a higher probability of having a second child with Turner syndrome and concluded that there is evidence in the small cohort that they used of a greater probability. It is suggested that a larger study be conducted to look further into these findings.that &lt;br /&gt;
*'''Obstetric Outcomes in Women with Turner Karyotype.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21865365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: In this study it was found that women with Turner syndrome had shorter pregnancies than that of a control group, but no other marked difference was observed between the groups.&lt;br /&gt;
*'''Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21496813&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This paper examined a number of pregnant women with Turner syndrome, some who incidentally went through puberty even though they had no hormone replacement therapy and another group that had undertaken hormone replacement therapy. Though there were not many complications in either group, the groups were small in number and one mother did have cardiovascular difficulties later on in life. Hence a thorough examination of pregnant Turner syndrome women should be conducted prior to conception.&lt;br /&gt;
*'''Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20923275&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This article assessed the prognosis of pregnant women with Turner syndrome. They concluded that spontaneous pregnancy increases the risk of the baby having phenotypic and chromosomal abnormalities compared with women having assisted reproductive therapies.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Future research=== &lt;br /&gt;
&lt;br /&gt;
Future research needs to be conducted in the following areas: to follow up on the suggestions given in the conclusions of current research papers as outlined in the prior section and also into how the care system is functioning for Turner syndrome individuals as outlined below.&lt;br /&gt;
&lt;br /&gt;
*'''Medical Care of Girls with Turner Syndrome: Where are we Lacking?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21454226&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research found that a large proportion (&amp;gt;50%) of people with Turner syndrome are not given adequate information upon diagnosis or screenings for complications and symptoms. Therefore it is suggested in order to rectify this issue that more education should be given to physicians on the syndrome&lt;br /&gt;
*'''Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21752892&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; and '''Turner's syndrome requires multidisciplinary approach.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19514616&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: These article evaluate the need for a multidisciplinary approach to treatment of Turner syndrome. Since the symptoms can be wide ranging and severe, it is difficult but necessary for all of them to be examined in each individual. Hence a greater care plan for individuals should be implemented upon diagnosis.&lt;br /&gt;
&lt;br /&gt;
== Glossary ==&lt;br /&gt;
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'''Alpha-fetoprotein''' is a protein with an unknown function. It makes up, up to one third of the protein serum levels found in the second trimester of pregnancy and in neural tube defects, these alpha-fetoprotein levels are elevated. &amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
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'''Amniocentesis''' is a prenatal diagnostic tool. The procedure involves the sampling of amniotic fluid from the amniotic sac using a syringe, that is then tested for a number of abnormalities. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
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'''Brachycephaly''' is a condition where the coronal suture of the skull fuses prematurely. Since the skull is unable to expand any further in the anterior-posterior directions due to this closure, it grows to an abnormal size in in the lateral dimension.&amp;lt;ref&amp;gt;Flint, P 2010, ''Flint: Cummings Otolaryngology: Head &amp;amp; Neck Surgery, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-323-05283-2..00186-5--s0045&amp;amp;isbn=978-0-323-05283-2&amp;amp;uniqId=282726024-5&amp;lt;/ref&amp;gt;&lt;br /&gt;
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'''Coarctation''' of the aorta is an abnormality where the aorta is constricted at one or various sections. This can be caused by genetic and/or environmental factors.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
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'''Chorionic villous sampling''' is a prenatal diagnostic tool which can be used from 7 weeks after fertilisation. It is used to test for a number of chromosomal abnormalities including X-linked and metabolic disorders.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
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'''Cystic hygroma''' is a prenatal abnormality where fluid builds up in the posterior portion of the neck. The body may or may not relieve itself naturally of this accumulation of fluid after birth. &amp;lt;ref&amp;gt;Gabbe, S 2007, ''Gabbe: Obstetrics: Normal and Problem Pregnancies, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-443-06930-7..50011-6--cesec51&amp;amp;isbn=978-0-443-06930-7&amp;amp;uniqId=282726024-10&amp;lt;/ref&amp;gt;&lt;br /&gt;
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'''DNA-DNA hybridisation''' is a technique used to compare the similarities and differences between two sets of genes.&amp;lt;ref&amp;gt;Long, S 2009, ''Bradley: Neurology in Clinical Practice, 5th ed.Long: Principles and Practice of Pediatric Infectious Diseases Revised Reprint, 3rd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X&amp;amp;isbn=978-0-7020-3468-8&amp;amp;uniqId=282726024-19#4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
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'''Doppler sonography''' uses the doppler effect to help image and measure blood flow pattern in the patient.&amp;lt;ref&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
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'''Estriol''' is a hormone that is produced in greater amounts during pregnancy especially in the second and third trimester. One of its main functions is to assist with blood flow in the placenta and uterus.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
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'''Gametes''' are reproductive (sex) cells (ie: eggs and sperm) that can unite to form a new cell called a zygote. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6&amp;amp;isbn=978-0-443-06811-9&amp;amp;uniqId=283289096-4#4-u1.0-B978-0-443-06811-9..10001-6--b0020&amp;lt;/ref&amp;gt;&lt;br /&gt;
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'''Gonadoblastoma''' is an abnormal proliferation of gonadal cells, that may or may not be malignant.&amp;lt;ref&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
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'''Haploid''' is the status of a cell having only a single set of unpaired chromosomes, or half the number of chromosomes contained in typical body cells. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10019-3--sec5&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208594256&amp;amp;uniqId=283289096-7#4-u1.0-B978-0-443-06811-9..10019-3--sec5&amp;lt;/ref&amp;gt;&lt;br /&gt;
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'''hCG''' is the abbreviation for human chorionic gonadotropin. It is a hormone that functions in the early stage of pregnancy to maintain the blood supply to the corpus luteum.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
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'''Homologous chromosomes''' are pairs of chromosomes, one each obtained from maternal and paternal gametes.  46 total chromosome complements are within an organism, 22 pairs of which are homologous chromosomes (called autosomes); the other 2 chromosomes are the sex chromosomes. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6--sec7&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208599219&amp;amp;uniqId=283289096-10#4-u1.0-B978-0-443-06811-9..10001-6--sec9&amp;lt;/ref&amp;gt; &lt;br /&gt;
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'''Hypoplasia''' is when an organ or tissue is not completely developed.&amp;lt;ref&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
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'''Inhibin A''' is a peptide produced by the ovaries and acts to restrain the production of follicle-stimulating hormone.&amp;lt;ref&amp;gt;Melmed, S 2011, ''Melmed: Williams Textbook of Endocrinology, 12th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0324-5..00045-6&amp;amp;isbn=978-1-4377-0324-5&amp;amp;uniqId=282726024-25 &amp;lt;/ref&amp;gt;&lt;br /&gt;
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'''Karyotype''' is an individual's set of chromosomes, both their number and appearance.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
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'''Meiosis''' is the specific process of cell division within sex cells which halves the number of chromosomes in the cells through via two cell divisions; this is specific to germ cells only, creating haploid gametes (sex cells) from diploid cells. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;lt;/ref&amp;gt; &lt;br /&gt;
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'''Monosomy''' is a condition wherein a specific chromosome is completely missing within one gamete that combines with a normal gamete to form a zygote; a chromosome has no homologue, or matching chromosome, to pair with. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6--sec15&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208595822&amp;amp;uniqId=283289096-8#4-u1.0-B978-0-443-06811-9..10001-6--sec41&amp;lt;/ref&amp;gt;&lt;br /&gt;
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'''Mosaicism''' is when a particular type or all cells of an individual do not have the same genetic makeup. This is caused by a mutation during embryonic cell division.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
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'''Nondisjunction''' is the failure of chromosome pairs to separate entirely during either stage of Meiosis. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec27&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--spara33&amp;lt;/ref&amp;gt;&lt;br /&gt;
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'''Oligohydramnios''' is a prenatal condition, where there is an insufficient amount of amniotic fluid.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Polyhydramnios''' is a prenatal condition, where there is an excessive amount of amniotic fluid.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Random assortment'''&lt;br /&gt;
&lt;br /&gt;
'''Recombination''' is the process which by genetic material is crossed over and switched between two segments of DNA which adds to the genetic diversity of the genome.&lt;br /&gt;
&lt;br /&gt;
'''SHOX gene''' is the short stature homeobox gene, that when deficient frequently results in short stature.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Sister chromatids'''&lt;br /&gt;
&lt;br /&gt;
'''Ultrasonography''' is a medical technique that employs ultrasound frequencies to visualise a patient's internal bodily structure.&amp;lt;ref&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== References ==&lt;br /&gt;
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&amp;lt;references/&amp;gt;&lt;br /&gt;
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{{2011Projects}}&lt;/div&gt;</summary>
		<author><name>Z3217043</name></author>
	</entry>
	<entry>
		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=73716</id>
		<title>2011 Group Project 1</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=73716"/>
		<updated>2011-09-30T09:07:21Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: &lt;/p&gt;
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&lt;div&gt;{{2011ProjectsMH}}&lt;br /&gt;
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== Turner Syndrome ==&lt;br /&gt;
&lt;br /&gt;
--[[User:S8600021|Mark Hill]] 10:44, 8 September 2011 (EST) Some of the existing sub-sections have appropriate content, but there are also empty sub-sections, a total lack of referencing/citation and no glossary. &lt;br /&gt;
* The referencing issue needs urgent  progress.&lt;br /&gt;
* Existing figures/table are appropriate. Table appears to be directly used from an uncited source.&lt;br /&gt;
* There needs to be more images in this work.&lt;br /&gt;
* Where is the student drawn figure?&lt;br /&gt;
* Read http://embryology.med.unsw.edu.au/embryology/index.php?title=Help:Reference_Tutorial#Multiple%20Instances%20on%20Page&lt;br /&gt;
&lt;br /&gt;
== Introduction ==&lt;br /&gt;
&lt;br /&gt;
Turner syndrome, named after Henry Hubert Turner who first described the syndrome in his paper in 1938,&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;4557013&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; is one of the most commonly occuring chromosomal disorders. It is caused by complete or partial X monosomy in some or all cells and occurs in approximately 1 in 2000 live female births, however the morbidity rate of spontaneous abortions is 10% and only about 1% of fetuses survive to term. &lt;br /&gt;
&lt;br /&gt;
During normal fetal development, each ovary contain as many as 7 million oocytes. The oocytes gradually reduced to 400,000 during menarche and during menopause fewer than 10,000 remains. However, in Turner syndrome, the ovaries develop normally during embryogenesis but the absence of the second X chromosome leads to an accelerated loss of oocytes, which is complete by the time the infant, is aged 2. Genetically menopause occurs before menarche and the ovaries are reduced to atrophic fibrous strands, devoid of ova and follicles (streak ovaries). Development of somatic (nongonadal) tissues that reside on the missing/abnormal X chromosome are also severely affected. For example short stature is caused by a deletion of the Xp chromosome and the deletion of Xq causes gonadal dysfunction &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt; 6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
 &lt;br /&gt;
The most frequent clinical feature is short stature and gonadal dysgenesis. Other features may include coarctation of the aorta, renal anomalies, neck webbing, and lymphoedema. The affected organ systems and tissues may are effected to a lesser or greater extent amongst that are affected by turner syndrome. Each person who has turner syndrome all vary in their clinical phenotype. In recent years there has been increased interest in Turner Syndrome due to the introduction of growth hormone treatment. There has been marked improvement in the understanding of this condition as advances in molecular genetic techniques occur. However, there still further research to be completed. A multidisciplinary approach to treatment is important to improve the quality of life of girls with Turner Syndrome &amp;lt;ref&amp;gt;http://eje-online.org/content/151/6/657.long&amp;lt;/ref&amp;gt;.&lt;br /&gt;
 &lt;br /&gt;
[[File:Karyotype.jpg|200px|thumb|left|The arrow indicates the presence of only one X chromosome in Karyotype]]&lt;br /&gt;
&lt;br /&gt;
== Epidemiology ==&lt;br /&gt;
&lt;br /&gt;
Turner Syndrome affects about 1 in 2000 live-born females. There are three types of karyotypic abnormalities but the most frequently seen is where the entire X chromosome is missing resulting in 45 X karyotype. The remaining third have structural abnormalities of the X chromosomes, and two thirds are mosaics. Whereby, the maternal X is retained in two-thirds of women and the paternal X in the remainder.&lt;br /&gt;
The phenotype of Turner Syndrome is varies but it involves anomalies of the sex chromosome. It could be caused by the limited amount of genetic material in these abnormal chromosomes. Turner Syndrome can be transmitted from mother to daughter, and thus can it could be described as a heredity linked syndrome &amp;lt;ref&amp;gt;http://eje-online.org/content/151/6/657.long&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The loss of one of the sex chromosomes of turner syndrome occurs after the zygote has formed or just after the fusion of the gametes. In 70-80% of cases the retained X is from the mother. In such circumstances has lead to the different phenotypic expression of the genes present on the X chromosome depending upon if it came from the mother or father. &lt;br /&gt;
The morphological differences from those retaining the maternal compared to retaining the paternal X is have shown to have a greater incidence of cardiovascular anomalies and neck webbing. &lt;br /&gt;
The missing sex chromosome could be either an X or a Y. This has clinical implications because if the Y material is present there is a risk of up to 30% of gonadoblastoma developing in the dysgenetic gonads. This is because the 'gonadoblastoma locus' is on the Y chromosome which is believed to be situated on the long arm of the Y just below the centromere.&lt;br /&gt;
Another factor affecting the phenotype in Turner syndrome is the inactivation of the abnormal X chromosomes. In a normal fetus there should be only one X chromosome that is active in each cell &amp;lt;ref&amp;gt;Wade, Nicholas (2009-09-15). '''&amp;quot;New Clues to Sex Anomalies in How Y Chromosomes Are Copied&amp;quot;'''. The New York Times. Retrieved 2010-05-26. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1511250/?page=2&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
[[File:Stats abnormal.jpg]]  &lt;br /&gt;
&lt;br /&gt;
Abnormalities associated with Turner Syndrome &amp;lt;ref&amp;gt;http://eje-online.org/content/151/6/657.long&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Etiology ==&lt;br /&gt;
[[File:nondisjunction.jpg|850px|thumb|right|alt text|This figure shows the progeny created from normal disjunction (A), and non-disjunction during both Meiosis I (B) and Meiosis II (C).]]&lt;br /&gt;
&lt;br /&gt;
Causation of Turner Syndrome (TS) can be traced back to the stages of sex-cell development.  When sex cells divide through a process called [[#Glossary | '''meiosis''']] to create [[#Glossary | '''gametes''']], either a [[#Glossary | '''haploid''']] egg (for females) or sperm (for males) two divisions occur, Meiosis I and Meiosis II.  Meiosis is the main process which helps create the vast genetic diversity within all populations by allowing [[#Glossary | '''recombination''']] and [[#Glossary | '''random assortment''']].  During Meiosis I [[#Glossary | '''homologous chromosomes''']] are separated; following Meiosis I, [[#Glossary | '''sister chromatids''']] separate during Meiosis II.  If during either stage of Meiosis I or II the homologous chromosomes or sister chromatids, respectively, do not fully separate, a phenomenon can occur called [[#Glossary | '''nondisjunction''']].  Nondisjunction causes an uneven distribution of genetic material to each daughter nuclei.  When an uneven distribution is such that one of the gametes does not have any of a chromosome, it can combine with another normal gamete to create a fertilized egg with only one chromosome as opposed to the normal two that are found in human cells; this is called a [[#Glossary | '''monosomy''']].  When this occurs in the sex chromosomes leaving only a single X chromosome (X0 genotype) Turner Syndrome is created, leaving only 45 chromosomes in the zygote rather than the normal 46.  &lt;br /&gt;
&lt;br /&gt;
[[File:22+23=45.jpg|350px|thumb|left|22 chromosomal egg + 23 chromosomal sperm = 45 chromsomes in zygote instead of normal 46.]]&lt;br /&gt;
Turner Syndrome can also be created by partial monosomy or disjunctions, meaning that although a whole X chromosome is not missing, portions of it are not present or are non-functional, rendering the chromosome useless.  Any disjunction seems to be completely sporadic and have yet to be attributed to any genetic link. The only thing known for sure is that during conception a portion of or the whole second sex chromosome is not conveyed to the zygote.&amp;lt;ref&amp;gt;http://www.nytimes.com/2009/09/15/science/15chrom.html?pagewanted=1&amp;amp;_r=1&amp;amp;hpw&amp;lt;/ref&amp;gt; Because at least one X chromosome is necessary for vital functions, this condition can only be found in females.&lt;br /&gt;
&lt;br /&gt;
== Clinical Manifestations ==&lt;br /&gt;
&lt;br /&gt;
The following are a list of characteristics and diseases which tend to accompany, be caused by, or be related to Turner Syndrome.  &lt;br /&gt;
&lt;br /&gt;
===Physical Attributes:===&lt;br /&gt;
*congenital malformations (heart, urinary system, face, neck, ears) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*gonadal dysgenesis (causes estrogen deficiencies, which can cause infertility) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;15588233&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*increased risk of fractures &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16624607&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low cortical bone mineral density (BMD) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16624607&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*middle ear infections &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*premature ovarian failure &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;15588233&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*short/reduced stature &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;15588233&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*webbed neck &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Decreased Cognition:===&lt;br /&gt;
*emotion processing difficulties &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC3114458&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*increased impulsivity &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2742423&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low IQ score &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2742423&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*nonverbal learning disability (slow math calculations) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC3114458&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*social cognition difficulties &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC3114458&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*visuoperception/visuoconstruction deficit (identifying and locating is difficult due to poor visual working memory) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2742423&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Increased Risk of:===&lt;br /&gt;
*cirrhosis of the liver &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*colon and rectal cancers &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*hypothyroidism &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*inflammatory bowel disease &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*morbidity and mortality &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;15588233&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*neurovascular disease &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*osteoporosis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*ovarian failure &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*renal and gastrointestinal disease &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Prone to Develop Autoimmune Conditions:=== &lt;br /&gt;
*alopecia areata &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coeliac disease (CD) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12466343&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*psoriasis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*thyroiditis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;15588233&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*type 1 diabetes &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;15588233&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Cardiac Abnormalities:===&lt;br /&gt;
(most serious/life threatening medical problems created by Turner Syndrome)&lt;br /&gt;
*absence of portal vein &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16612647&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*aortic dilatation and dissection  &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*arrhythmias &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;17015510&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*arteriosclerosis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*biscuspid aortic valves &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coarctation of the aorta &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*hypertension &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*ischemic heart disease &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*mitral valve prolapsed &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== Diagnostic Procedures ==&lt;br /&gt;
&lt;br /&gt;
===Diagnostic Definition===&lt;br /&gt;
&lt;br /&gt;
[[File:Turner Syndrome X Chromosome Variations.jpg|thumb|right|Variations of the Second X Chromosome in Turner Syndrome]]&lt;br /&gt;
Turner syndrome is diagnosed through both an evaluation of physical features and by analysis of the second sex chromosome. The two criteria must be met for classification of Turner syndrome, an abnormality in the second sex chromosome must be found and the abnormality must be found to be expressed somehow in the individual's traits. Hence if physical characteristics are not present even when the cytogenetic criterion is met the patient is not diagnosed as having Turner syndrome.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; In Turner syndrome the second sex chromosome is either:&lt;br /&gt;
&lt;br /&gt;
*Completely absent (45,X)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Partially absent&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Forms an isochromosome (isoXq), possessing a long arm duplication (q) and being devoid of a short arm (p)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*In a ring formation (rX)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Is devoid of the homeobox gene, [[#Glossary | '''SHOX''']] (short stature homeobox), the deletion being prior to the junction between Xp22.2 and Xp22.3&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
Any of these variations of the second sex chromosome may occur with or without cell line [[#Glossary | '''mosaicism''']].&lt;br /&gt;
Turner syndrome may be diagnosed prenatally or postnatally, using this genetic diagnostic definition coupled with an appropriate phenotypic evaluation of the individual, as outlined below.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Prenatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
The prenatal diagnostic tool for Turner syndrome is karyotype screening and testing for phenotype abnormalities. If Turner syndrome is diagnosed prenatally, karyotype screening and an evaluation of the individual's traits should be conducted again postnatally for confirmation of this diagnosis. Turner syndrome is frequently diagnosed after karyotype screening during [[#Glossary | '''chorionic villous sampling''']] or [[#Glossary | '''amniocentesis''']].&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
The table below outlines various prenatal tests conducted and the indications that may be present in babies with Turner syndrome. Although these techniques and the indications they reveal may highlight Turner syndrome signs, they should not be used as sole diagnostic tools.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Technique'''&lt;br /&gt;
| '''Turner syndrome indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Ultrasound'''&lt;br /&gt;
|&lt;br /&gt;
*Increased nuchal translucency &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Cystic hygroma''']] &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Coarctation''']] of the aorta &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Left-sided cardiac defects &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Brachycephaly''']] &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Renal anomalies &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Polyhydramnios''']] &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Oligohydramnios''']] &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Growth retardation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;10599686&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Turner Syndrome Test Showing Nuchal Translucency.gif|none|thumb|400px|Figure 2: Ultrasound Test Showing Nuchal Translucency.]]&lt;br /&gt;
[[File:Turner Syndrome Test Showing Cystic Hygroma.gif|none|thumb|400px|Figure 3: Ultrasound Test Showing Cystic Hygroma.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Maternal serum screening'''&lt;br /&gt;
|&lt;br /&gt;
*Abnormal [[#Glossary | '''α-fetoprotein''']] levels &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary | '''inhibin A''']] levels &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary | '''hCG''']] levels &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Abnormal unconjugated [[#Glossary | '''estriol''']] levels &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File: TurnerSyndromeMaternalSerumSampling.jpg|none|thumb|400px|Figure 4: Maternal Serum Sampling.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
===Postnatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
In postnatal diagnosis, [[#Glossary | '''karyotype''']] investigation is undertaken for the individual. When a female presents with the following clinical findings, explained in table below, it is recommended that chromosomal analysis is undertaken, so that Turner syndrome may be eliminated&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;:&lt;br /&gt;
{|sstyle= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Age'''&lt;br /&gt;
| '''Phenotypic manifestations/indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Baby/infant'''&lt;br /&gt;
|&lt;br /&gt;
*Oedema of the hands or feet&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Nuchal folds &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Cardiac abnormalities for example aortic dilation, bicuspid aortic valve and aortic coarctation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Low hairline &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Low set ears &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Small mandible &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Gonadal dysgenesis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Child'''&lt;br /&gt;
| &lt;br /&gt;
*Short stature with low growth velocity &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Cubitus valgus''']] &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Nail [[#Glossary | '''hypoplasia''']] &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Hyperconvex uplifted nails &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Multiple pigmented benign birthmarks/moles &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Characteristic faecies &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Short fourth metacarpal &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*High arched palate &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Extensive and chronic inflammation/infection of the ear &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Hearing loss &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 4 year old child.jpg|left|thumb|150px|Figure 5: Four-year-old girl with Turner's syndrome. Note somewhat broad chest, prominent ears and ptosis, but otherwise normal proportion. There is no pronounced neck webbing or edema.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Adolescent/Adult'''&lt;br /&gt;
|&lt;br /&gt;
*Absence of breast development by 13 yr of age &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Pubertal arrest &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Primary or secondary amenorrhoea&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Unexplained short stature &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Renal abnormalities &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Immune disorders &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 35 year old woman.jpg|none|thumb|150px|Figure 6: A Thirtyfive-year-old woman with Turner's syndrome. Note increased carrying angle of arms, broad flat chest and sexual infantilism, but the lack of pronounced neck webbing or peripheral edema.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Since an absence of the physical signs of puberty and/or growth failure are often seen as normal variations in the population, these possible indications/symptoms of Turner syndrome may not be further investigated by many clinicians.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20361125&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; When karyotyping in order to exclude natural cell variation, a sufficient number of cells should be assessed. Whilst a sample of blood will often reveal Turner syndrome, an evaluation of a second tissue sample like the skin is recommend.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
[[#Glossary | '''DNA hybridisation''']] or [[#Glossary | '''fluorescent in situ hybridisation''']] should be conducted using a Y centromeric or short arm probe to detect for any additional Y or X chromosomal material.&lt;br /&gt;
If there is any of the Y chromosome present, this may initiate [[#Glossary | '''gonadoblastoma''']] development, another primary indicator of Turner syndrome. Hence the individual should have both a vaginal [[#Glossary | '''ultrasonograph''']] and colour [[#Glossary | '''Doppler sonograph''']] of their gonads to detect whether any Y chromosome fragments are present. These tests should be repeated regularly to monitor the patient for any malignancy, if a gonadectomy is not undertaken.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== Treatment ==&lt;br /&gt;
&lt;br /&gt;
=== Cardiac Treatment ===&lt;br /&gt;
&lt;br /&gt;
When patients are confirmed with Turner Syndrome, it is necessary to have a full cardiac evaulation including a physical exam and a echocardiogram. If cardiac abnormalities are found, monitoring by a cardiologist is recommended including regular blood pressure checks&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.  Coarctation of the aorta and hypoplastic left heart are quite often very serious issues are need to be dealt with surgically&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
If no abnormalities are found, blood pressure in Turner Syndrome patients is still routinely checked and a follow up cardiac evaulation is recommended for girls around the age of puberty (12-15)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Speech ===&lt;br /&gt;
&lt;br /&gt;
Many Turner Syndrome patients have trouble with their speech. It is necessary for them to be refered to an Ear, Nose and Throat specialist and to a speech therapist to work on improve any speech problems&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Management of Puberty and Growth ===&lt;br /&gt;
The main treatment for growth and pubertal development is Hormone Replacement Therapy. Growth Hormone is adminstered to girls with abnormal growth, resulting in postive growth that is consistent with the expected height of the patient. It is adminstered as early as 2 years of age, but more often in the age group of 9-12 which is in line with the growth spurt that occurs during puberty&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Natural estrogen and progesterone are administered to girls when they reach the age of puberty in early adolescence. The age at which this treatment commences varies between individuals, as does the dosage. The adminsteration of estrogen will begin the process of puberty in girls affected by Turner Syndrome and it is important that this begins around the same time as her peers&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. The use of estrogen is often held off if the patient is also undergoing GH treatment so that maximum growth can be achieved, as estrogen will induce the fusion of the epiphyses and limit longitudinal bone growth&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Around 10% of nonmosaic and 20% of mosaic women with Turner’s will have spontaneous menses (periods) and may not need to undergo Hormone Replacement to initiate puberty. Around 2-5% of these women will have the potential to fall pregnant naturally&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
=== Appearance ===&lt;br /&gt;
&lt;br /&gt;
Extreme neck webbing maybe worrying or uncomfortable to women with Turner’s and in some cases plastic surgery is undertaken to fix this problem. Also if convex gorwth of toenails occurs, surgery is conducted so that the woman can wear normal shoes&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Ongoing Adult Treatment ===&lt;br /&gt;
&lt;br /&gt;
Closely monitoring the health of Turner Syndrome adults is vital in the reduction of morbidity and mortality. An annual physical evalution should be undertaken which includes, blood pressure, heart auscultation, thyroid function, breast exam, and pap smear&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.  &lt;br /&gt;
&lt;br /&gt;
Particular attention needs to be taken in the area of weight and obesity in Turner Syndrome women due to their high risk of developing diabetes, osteoporosis and hypertension. Patients are to be encouraged to have a healthy lifestyle including healthy eating and exercise&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Research ==&lt;br /&gt;
&lt;br /&gt;
===Current research===&lt;br /&gt;
&lt;br /&gt;
Since there is no preventative or cure, currently mainly research is being conducted into the areas of symptoms, possible treatments and risks involved with Turner syndrome.&lt;br /&gt;
&lt;br /&gt;
'''Growth hormone therapy in Turner syndrome: its affect on height, weight and stature.'''&lt;br /&gt;
*'''Growth hormone effect on body composition in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21720878&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research findings from this paper conclude that people with Turner syndrome have lower height, higher BMI and higher proportional sitting height and leg length than that of the normal population, no matter whether they undergo hormone replacement therapy or not.&lt;br /&gt;
*'''Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21619701&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study has concluded that all adults with Turner syndrome had a similar quality of life regardless of whether they have a higher stature due to undergoing growth hormone replacement therapy or not. It was hypothesised that height differences did not affect quality of life as the individuals seemed to adapt to their own life challenges.&lt;br /&gt;
*'''Growth hormone treatment for Turner syndrome in Australia reveals that younger age and increased dose interact to improve response.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21375553&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research from this study found that growth hormone therapy works most optimally if given earlier in life and at a high dose in the first year of treatment.&lt;br /&gt;
*'''Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21398400&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: Another study which confers that the early introduction of growth hormone therapy is most efficacious. However the individual's glucose metabolism should be monitored as the hormones may affect glucose tolerance transiently.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Oestrogen hormone replacement therapy in Turner syndrome: the adequate dosage and its effect on uterine development, breast development, bone mineral density and sexual characteristics.'''&lt;br /&gt;
*'''Growth hormone plus childhood low-dose estrogen in Turner's syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21449786&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study indicates that undergoing both growth hormone and oestrogen therapy together may help increase the efficacy of each (increasing growth in height and pubertal development) more than when they act alone. &lt;br /&gt;
*'''Estrogen requirements in girls with Turner syndrome; how low is enough for initiating puberty and uterine development?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21793702&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study assessed the minimal dosage of estrogen that is required to bring about desired pubertal development in girls with Turner syndrome.&lt;br /&gt;
*'''Puberty induction in Turner syndrome: results of oestrogen treatment on development of secondary sexual characteristics, uterine dimensions and serum hormone levels.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19200215&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: It was found that uterus of women with Turner syndrome who had undergone oestrogen was underdeveloped, however the exact cause of this needs to be further researched.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Pregnancy and Turner syndrome: evaluation and treatment of risks involved with pregnancy for: the mothers of Turner syndrome babies, for individuals with Turner syndrome and for the babies of individuals with Turner syndrome.'''&lt;br /&gt;
*'''Familial occurrence of Turner syndrome: casual event or increased risk?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21648298&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research examined whether there is a higher probability of having a second child with Turner syndrome and concluded that there is evidence in the small cohort that they used of a greater probability. It is suggested that a larger study be conducted to look further into these findings.that &lt;br /&gt;
*'''Obstetric Outcomes in Women with Turner Karyotype.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21865365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: In this study it was found that women with Turner syndrome had shorter pregnancies than that of a control group, but no other marked difference was observed between the groups.&lt;br /&gt;
*'''Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21496813&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This paper examined a number of pregnant women with Turner syndrome, some who incidentally went through puberty even though they had no hormone replacement therapy and another group that had undertaken hormone replacement therapy. Though there were not many complications in either group, the groups were small in number and one mother did have cardiovascular difficulties later on in life. Hence a thorough examination of pregnant Turner syndrome women should be conducted prior to conception.&lt;br /&gt;
*'''Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20923275&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This article assessed the prognosis of pregnant women with Turner syndrome. They concluded that spontaneous pregnancy increases the risk of the baby having phenotypic and chromosomal abnormalities compared with women having assisted reproductive therapies.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Future research=== &lt;br /&gt;
&lt;br /&gt;
Future research needs to be conducted in the following areas: to follow up on the suggestions given in the conclusions of current research papers as outlined in the prior section and also into how the care system is functioning for Turner syndrome individuals as outlined below.&lt;br /&gt;
&lt;br /&gt;
*'''Medical Care of Girls with Turner Syndrome: Where are we Lacking?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21454226&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research found that a large proportion (&amp;gt;50%) of people with Turner syndrome are not given adequate information upon diagnosis or screenings for complications and symptoms. Therefore it is suggested in order to rectify this issue that more education should be given to physicians on the syndrome&lt;br /&gt;
*'''Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21752892&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; and '''Turner's syndrome requires multidisciplinary approach.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19514616&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: These article evaluate the need for a multidisciplinary approach to treatment of Turner syndrome. Since the symptoms can be wide ranging and severe, it is difficult but necessary for all of them to be examined in each individual. Hence a greater care plan for individuals should be implemented upon diagnosis.&lt;br /&gt;
&lt;br /&gt;
== Glossary ==&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Alpha-fetoprotein''' is a protein with an unknown function. It makes up, up to one third of the protein serum levels found in the second trimester of pregnancy and in neural tube defects, these alpha-fetoprotein levels are elevated. &amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Amniocentesis''' is a prenatal diagnostic tool. The procedure involves the sampling of amniotic fluid from the amniotic sac using a syringe, that is then tested for a number of abnormalities. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Brachycephaly''' is a condition where the coronal suture of the skull fuses prematurely. Since the skull is unable to expand any further in the anterior-posterior directions due to this closure, it grows to an abnormal size in in the lateral dimension.&amp;lt;ref&amp;gt;Flint, P 2010, ''Flint: Cummings Otolaryngology: Head &amp;amp; Neck Surgery, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-323-05283-2..00186-5--s0045&amp;amp;isbn=978-0-323-05283-2&amp;amp;uniqId=282726024-5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Coarctation''' of the aorta is an abnormality where the aorta is constricted at one or various sections. This can be caused by genetic and/or environmental factors.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Chorionic villous sampling''' is a prenatal diagnostic tool which can be used from 7 weeks after fertilisation. It is used to test for a number of chromosomal abnormalities including X-linked and metabolic disorders.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Cystic hygroma''' is a prenatal abnormality where fluid builds up in the posterior portion of the neck. The body may or may not relieve itself naturally of this accumulation of fluid after birth. &amp;lt;ref&amp;gt;Gabbe, S 2007, ''Gabbe: Obstetrics: Normal and Problem Pregnancies, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-443-06930-7..50011-6--cesec51&amp;amp;isbn=978-0-443-06930-7&amp;amp;uniqId=282726024-10&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''DNA-DNA hybridisation''' is a technique used to compare the similarities and differences between two sets of genes.&amp;lt;ref&amp;gt;Long, S 2009, ''Bradley: Neurology in Clinical Practice, 5th ed.Long: Principles and Practice of Pediatric Infectious Diseases Revised Reprint, 3rd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X&amp;amp;isbn=978-0-7020-3468-8&amp;amp;uniqId=282726024-19#4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Doppler sonography''' uses the doppler effect to help image and measure blood flow pattern in the patient.&amp;lt;ref&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Estriol''' is a hormone that is produced in greater amounts during pregnancy especially in the second and third trimester. One of its main functions is to assist with blood flow in the placenta and uterus.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Gametes''' are reproductive (sex) cells (ie: eggs and sperm) that can unite to form a new cell called a zygote. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6&amp;amp;isbn=978-0-443-06811-9&amp;amp;uniqId=283289096-4#4-u1.0-B978-0-443-06811-9..10001-6--b0020&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Gonadoblastoma''' is an abnormal proliferation of gonadal cells, that may or may not be malignant.&amp;lt;ref&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Haploid''' is the status of a cell having only a single set of unpaired chromosomes, or half the number of chromosomes contained in typical body cells. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10019-3--sec5&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208594256&amp;amp;uniqId=283289096-7#4-u1.0-B978-0-443-06811-9..10019-3--sec5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''hCG''' is the abbreviation for human chorionic gonadotropin. It is a hormone that functions in the early stage of pregnancy to maintain the blood supply to the corpus luteum.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Homologous chromosomes''' are pairs of chromosomes, one each obtained from maternal and paternal gametes.  46 total chromosome complements are within an organism, 22 pairs of which are homologous chromosomes (called autosomes); the other 2 chromosomes are the sex chromosomes. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6--sec7&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208599219&amp;amp;uniqId=283289096-10#4-u1.0-B978-0-443-06811-9..10001-6--sec9&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
'''Hypoplasia''' is when an organ or tissue is not completely developed.&amp;lt;ref&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Inhibin A''' is a peptide produced by the ovaries and acts to restrain the production of follicle-stimulating hormone.&amp;lt;ref&amp;gt;Melmed, S 2011, ''Melmed: Williams Textbook of Endocrinology, 12th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0324-5..00045-6&amp;amp;isbn=978-1-4377-0324-5&amp;amp;uniqId=282726024-25 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Karyotype''' is an individual's set of chromosomes, both their number and appearance.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Meiosis''' is the specific process of cell division within sex cells which halves the number of chromosomes in the cells through via two cell divisions; this is specific to germ cells only, creating haploid gametes (sex cells) from diploid cells. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
'''Monosomy''' is a condition wherein a specific chromosome is completely missing within one gamete that combines with a normal gamete to form a zygote; a chromosome has no homologue, or matching chromosome, to pair with. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6--sec15&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208595822&amp;amp;uniqId=283289096-8#4-u1.0-B978-0-443-06811-9..10001-6--sec41&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Mosaicism''' is when a particular type or all cells of an individual do not have the same genetic makeup. This is caused by a mutation during embryonic cell division.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Nondisjunction''' is the failure of chromosome pairs to separate entirely during either stage of Meiosis. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec27&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--spara33&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Oligohydramnios''' is a prenatal condition, where there is an insufficient amount of amniotic fluid.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Polyhydramnios''' is a prenatal condition, where there is an excessive amount of amniotic fluid.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Random assortment'''&lt;br /&gt;
&lt;br /&gt;
'''Recombination''' is the process which by genetic material is crossed over and switched between two segments of DNA which adds to the genetic diversity of the genome.&lt;br /&gt;
&lt;br /&gt;
'''SHOX gene''' is the short stature homeobox gene, that when deficient frequently results in short stature.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Sister chromatids'''&lt;br /&gt;
&lt;br /&gt;
'''Ultrasonography''' is a medical technique that employs ultrasound frequencies to visualise a patient's internal bodily structure.&amp;lt;ref&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== References ==&lt;br /&gt;
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{{2011Projects}}&lt;/div&gt;</summary>
		<author><name>Z3217043</name></author>
	</entry>
	<entry>
		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=73709</id>
		<title>2011 Group Project 1</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_1&amp;diff=73709"/>
		<updated>2011-09-30T09:00:14Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: &lt;/p&gt;
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&lt;div&gt;{{2011ProjectsMH}}&lt;br /&gt;
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== Turner Syndrome ==&lt;br /&gt;
&lt;br /&gt;
--[[User:S8600021|Mark Hill]] 10:44, 8 September 2011 (EST) Some of the existing sub-sections have appropriate content, but there are also empty sub-sections, a total lack of referencing/citation and no glossary. &lt;br /&gt;
* The referencing issue needs urgent  progress.&lt;br /&gt;
* Existing figures/table are appropriate. Table appears to be directly used from an uncited source.&lt;br /&gt;
* There needs to be more images in this work.&lt;br /&gt;
* Where is the student drawn figure?&lt;br /&gt;
* Read http://embryology.med.unsw.edu.au/embryology/index.php?title=Help:Reference_Tutorial#Multiple%20Instances%20on%20Page&lt;br /&gt;
&lt;br /&gt;
== Introduction ==&lt;br /&gt;
&lt;br /&gt;
Turner syndrome, named after Henry Hubert Turner who first described the syndrome in his paper in 1938,&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;4557013&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; is one of the most commonly occuring chromosomal disorders. It is caused by complete or partial X monosomy in some or all cells and occurs in approximately 1 in 2000 live female births, however the morbidity rate of spontaneous abortions is 10% and only about 1% of fetuses survive to term. &lt;br /&gt;
&lt;br /&gt;
During normal fetal development, each ovary contain as many as 7 million oocytes. The oocytes gradually reduced to 400,000 during menarche and during menopause fewer than 10,000 remains. However, in Turner syndrome, the ovaries develop normally during embryogenesis but the absence of the second X chromosome leads to an accelerated loss of oocytes, which is complete by the time the infant, is aged 2. Genetically menopause occurs before menarche and the ovaries are reduced to atrophic fibrous strands, devoid of ova and follicles (streak ovaries). Development of somatic (nongonadal) tissues that reside on the missing/abnormal X chromosome are also severely affected. For example short stature is caused by a deletion of the Xp chromosome and the deletion of Xq causes gonadal dysfunction &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt; PMC1273980&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
 &lt;br /&gt;
The most frequent clinical feature is short stature and gonadal dysgenesis. Other features may include coarctation of the aorta, renal anomalies, neck webbing, and lymphoedema. The affected organ systems and tissues may are effected to a lesser or greater extent amongst that are affected by turner syndrome. Each person who has turner syndrome all vary in their clinical phenotype. In recent years there has been increased interest in Turner Syndrome due to the introduction of growth hormone treatment. There has been marked improvement in the understanding of this condition as advances in molecular genetic techniques occur. However, there still further research to be completed. A multidisciplinary approach to treatment is important to improve the quality of life of girls with Turner Syndrome &amp;lt;ref&amp;gt;http://eje-online.org/content/151/6/657.long&amp;lt;/ref&amp;gt;.&lt;br /&gt;
 &lt;br /&gt;
[[File:Karyotype.jpg|200px|thumb|left|The arrow indicates the presence of only one X chromosome in Karyotype]]&lt;br /&gt;
&lt;br /&gt;
== Epidemiology ==&lt;br /&gt;
&lt;br /&gt;
Turner Syndrome affects about 1 in 2000 live-born females. There are three types of karyotypic abnormalities but the most frequently seen is where the entire X chromosome is missing resulting in 45 X karyotype. The remaining third have structural abnormalities of the X chromosomes, and two thirds are mosaics. Whereby, the maternal X is retained in two-thirds of women and the paternal X in the remainder.&lt;br /&gt;
The phenotype of Turner Syndrome is varies but it involves anomalies of the sex chromosome. It could be caused by the limited amount of genetic material in these abnormal chromosomes. Turner Syndrome can be transmitted from mother to daughter, and thus can it could be described as a heredity linked syndrome &amp;lt;ref&amp;gt;http://eje-online.org/content/151/6/657.long&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
The loss of one of the sex chromosomes of turner syndrome occurs after the zygote has formed or just after the fusion of the gametes. In 70-80% of cases the retained X is from the mother. In such circumstances has lead to the different phenotypic expression of the genes present on the X chromosome depending upon if it came from the mother or father. &lt;br /&gt;
The morphological differences from those retaining the maternal compared to retaining the paternal X is have shown to have a greater incidence of cardiovascular anomalies and neck webbing. &lt;br /&gt;
The missing sex chromosome could be either an X or a Y. This has clinical implications because if the Y material is present there is a risk of up to 30% of gonadoblastoma developing in the dysgenetic gonads. This is because the 'gonadoblastoma locus' is on the Y chromosome which is believed to be situated on the long arm of the Y just below the centromere.&lt;br /&gt;
Another factor affecting the phenotype in Turner syndrome is the inactivation of the abnormal X chromosomes. In a normal fetus there should be only one X chromosome that is active in each cell &amp;lt;ref&amp;gt;Wade, Nicholas (2009-09-15). '''&amp;quot;New Clues to Sex Anomalies in How Y Chromosomes Are Copied&amp;quot;'''. The New York Times. Retrieved 2010-05-26. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1511250/?page=2&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
[[File:Stats abnormal.jpg]]  &lt;br /&gt;
&lt;br /&gt;
Abnormalities associated with Turner Syndrome &amp;lt;ref&amp;gt;http://eje-online.org/content/151/6/657.long&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Etiology ==&lt;br /&gt;
[[File:nondisjunction.jpg|850px|thumb|right|alt text|This figure shows the progeny created from normal disjunction (A), and non-disjunction during both Meiosis I (B) and Meiosis II (C).]]&lt;br /&gt;
&lt;br /&gt;
Causation of Turner Syndrome (TS) can be traced back to the stages of sex-cell development.  When sex cells divide through a process called [[#Glossary | '''meiosis''']] to create [[#Glossary | '''gametes''']], either a [[#Glossary | '''haploid''']] egg (for females) or sperm (for males) two divisions occur, Meiosis I and Meiosis II.  Meiosis is the main process which helps create the vast genetic diversity within all populations by allowing [[#Glossary | '''recombination''']] and [[#Glossary | '''random assortment''']].  During Meiosis I [[#Glossary | '''homologous chromosomes''']] are separated; following Meiosis I, [[#Glossary | '''sister chromatids''']] separate during Meiosis II.  If during either stage of Meiosis I or II the homologous chromosomes or sister chromatids, respectively, do not fully separate, a phenomenon can occur called [[#Glossary | '''nondisjunction''']].  Nondisjunction causes an uneven distribution of genetic material to each daughter nuclei.  When an uneven distribution is such that one of the gametes does not have any of a chromosome, it can combine with another normal gamete to create a fertilized egg with only one chromosome as opposed to the normal two that are found in human cells; this is called a [[#Glossary | '''monosomy''']].  When this occurs in the sex chromosomes leaving only a single X chromosome (X0 genotype) Turner Syndrome is created, leaving only 45 chromosomes in the zygote rather than the normal 46.  &lt;br /&gt;
&lt;br /&gt;
[[File:22+23=45.jpg|350px|thumb|left|22 chromosomal egg + 23 chromosomal sperm = 45 chromsomes in zygote instead of normal 46.]]&lt;br /&gt;
Turner Syndrome can also be created by partial monosomy or disjunctions, meaning that although a whole X chromosome is not missing, portions of it are not present or are non-functional, rendering the chromosome useless.  Any disjunction seems to be completely sporadic and have yet to be attributed to any genetic link. The only thing known for sure is that during conception a portion of or the whole second sex chromosome is not conveyed to the zygote.&amp;lt;ref&amp;gt;http://www.nytimes.com/2009/09/15/science/15chrom.html?pagewanted=1&amp;amp;_r=1&amp;amp;hpw&amp;lt;/ref&amp;gt; Because at least one X chromosome is necessary for vital functions, this condition can only be found in females.&lt;br /&gt;
&lt;br /&gt;
== Clinical Manifestations ==&lt;br /&gt;
&lt;br /&gt;
The following are a list of characteristics and diseases which tend to accompany, be caused by, or be related to Turner Syndrome.  &lt;br /&gt;
&lt;br /&gt;
===Physical Attributes:===&lt;br /&gt;
*congenital malformations (heart, urinary system, face, neck, ears) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*gonadal dysgenesis (causes estrogen deficiencies, which can cause infertility) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;15588233&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*increased risk of fractures &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16624607&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low cortical bone mineral density (BMD) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16624607&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*middle ear infections &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*premature ovarian failure &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;15588233&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*short/reduced stature &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;15588233&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*webbed neck &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Decreased Cognition:===&lt;br /&gt;
*emotion processing difficulties &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC3114458&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*increased impulsivity &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2742423&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*low IQ score &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2742423&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*nonverbal learning disability (slow math calculations) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC3114458&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*social cognition difficulties &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC3114458&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*visuoperception/visuoconstruction deficit (identifying and locating is difficult due to poor visual working memory) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2742423&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Increased Risk of:===&lt;br /&gt;
*cirrhosis of the liver &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*colon and rectal cancers &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*hypothyroidism &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*inflammatory bowel disease &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*morbidity and mortality &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;15588233&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*neurovascular disease &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*osteoporosis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*ovarian failure &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*renal and gastrointestinal disease &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11844747&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Prone to Develop Autoimmune Conditions:=== &lt;br /&gt;
*alopecia areata &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coeliac disease (CD) &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12466343&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*psoriasis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;12602969&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*thyroiditis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;15588233&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*type 1 diabetes &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;15588233&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Cardiac Abnormalities:===&lt;br /&gt;
(most serious/life threatening medical problems created by Turner Syndrome)&lt;br /&gt;
*absence of portal vein &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16612647&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*aortic dilatation and dissection  &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*arrhythmias &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;17015510&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*arteriosclerosis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*biscuspid aortic valves &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*coarctation of the aorta &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*hypertension &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*ischemic heart disease &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16929365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*mitral valve prolapsed &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2023872&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== Diagnostic Procedures ==&lt;br /&gt;
&lt;br /&gt;
===Diagnostic Definition===&lt;br /&gt;
&lt;br /&gt;
[[File:Turner Syndrome X Chromosome Variations.jpg|thumb|right|Variations of the Second X Chromosome in Turner Syndrome]]&lt;br /&gt;
Turner syndrome is diagnosed through both an evaluation of physical features and by analysis of the second sex chromosome. The two criteria must be met for classification of Turner syndrome, an abnormality in the second sex chromosome must be found and the abnormality must be found to be expressed somehow in the individual's traits. Hence if physical characteristics are not present even when the cytogenetic criterion is met the patient is not diagnosed as having Turner syndrome.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; In Turner syndrome the second sex chromosome is either:&lt;br /&gt;
&lt;br /&gt;
*Completely absent (45,X)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Partially absent&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Forms an isochromosome (isoXq), possessing a long arm duplication (q) and being devoid of a short arm (p)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*In a ring formation (rX)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Is devoid of the homeobox gene, [[#Glossary | '''SHOX''']] (short stature homeobox), the deletion being prior to the junction between Xp22.2 and Xp22.3&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
Any of these variations of the second sex chromosome may occur with or without cell line [[#Glossary | '''mosaicism''']].&lt;br /&gt;
Turner syndrome may be diagnosed prenatally or postnatally, using this genetic diagnostic definition coupled with an appropriate phenotypic evaluation of the individual, as outlined below.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
===Prenatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
The prenatal diagnostic tool for Turner syndrome is karyotype screening and testing for phenotype abnormalities. If Turner syndrome is diagnosed prenatally, karyotype screening and an evaluation of the individual's traits should be conducted again postnatally for confirmation of this diagnosis. Turner syndrome is frequently diagnosed after karyotype screening during [[#Glossary | '''chorionic villous sampling''']] or [[#Glossary | '''amniocentesis''']].&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
The table below outlines various prenatal tests conducted and the indications that may be present in babies with Turner syndrome. Although these techniques and the indications they reveal may highlight Turner syndrome signs, they should not be used as sole diagnostic tools.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
{|style= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Technique'''&lt;br /&gt;
| '''Turner syndrome indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Ultrasound'''&lt;br /&gt;
|&lt;br /&gt;
*Increased nuchal translucency &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Cystic hygroma''']] &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Coarctation''']] of the aorta &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Left-sided cardiac defects &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Brachycephaly''']] &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Renal anomalies &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Polyhydramnios''']] &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Oligohydramnios''']] &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Growth retardation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;10599686&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File:Turner Syndrome Test Showing Nuchal Translucency.gif|none|thumb|400px|Figure 2: Ultrasound Test Showing Nuchal Translucency.]]&lt;br /&gt;
[[File:Turner Syndrome Test Showing Cystic Hygroma.gif|none|thumb|400px|Figure 3: Ultrasound Test Showing Cystic Hygroma.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Maternal serum screening'''&lt;br /&gt;
|&lt;br /&gt;
*Abnormal [[#Glossary | '''α-fetoprotein''']] levels &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16544046&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary | '''inhibin A''']] levels &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Abnormal [[#Glossary | '''hCG''']] levels &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Abnormal unconjugated [[#Glossary | '''estriol''']] levels &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|[[File: TurnerSyndromeMaternalSerumSampling.jpg|none|thumb|400px|Figure 4: Maternal Serum Sampling.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
===Postnatal Diagnosis===&lt;br /&gt;
&lt;br /&gt;
In postnatal diagnosis, [[#Glossary | '''karyotype''']] investigation is undertaken for the individual. When a female presents with the following clinical findings, explained in table below, it is recommended that chromosomal analysis is undertaken, so that Turner syndrome may be eliminated&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;:&lt;br /&gt;
{|sstyle= align=&amp;quot;center&amp;quot; border=&amp;quot;1&amp;quot;&lt;br /&gt;
|- bgcolor=&amp;quot;#99CCCC&amp;quot;&lt;br /&gt;
| '''Age'''&lt;br /&gt;
| '''Phenotypic manifestations/indications'''&lt;br /&gt;
| '''Image'''&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Baby/infant'''&lt;br /&gt;
|&lt;br /&gt;
*Oedema of the hands or feet&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Nuchal folds &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Cardiac abnormalities for example aortic dilation, bicuspid aortic valve and aortic coarctation &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Low hairline &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Low set ears &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Small mandible &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Gonadal dysgenesis &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
|&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
|'''Child'''&lt;br /&gt;
| &lt;br /&gt;
*Short stature with low growth velocity &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*[[#Glossary | '''Cubitus valgus''']] &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Nail [[#Glossary | '''hypoplasia''']] &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Hyperconvex uplifted nails &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Multiple pigmented benign birthmarks/moles &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Characteristic faecies &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Short fourth metacarpal &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*High arched palate &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Extensive and chronic inflammation/infection of the ear &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Hearing loss &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 4 year old child.jpg|left|thumb|150px|Figure 5: Four-year-old girl with Turner's syndrome. Note somewhat broad chest, prominent ears and ptosis, but otherwise normal proportion. There is no pronounced neck webbing or edema.]]&lt;br /&gt;
|- bgcolor=&amp;quot;#FFFFFF&amp;quot;&lt;br /&gt;
| '''Adolescent/Adult'''&lt;br /&gt;
|&lt;br /&gt;
*Absence of breast development by 13 yr of age &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Pubertal arrest &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Primary or secondary amenorrhoea&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;6753342&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Markedly elevated levels of follicle-stimulating hormone &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Unexplained short stature &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21527014&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Renal abnormalities &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
*Immune disorders &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
|[[File: Turners syndrome 35 year old woman.jpg|none|thumb|150px|Figure 6: A Thirtyfive-year-old woman with Turner's syndrome. Note increased carrying angle of arms, broad flat chest and sexual infantilism, but the lack of pronounced neck webbing or peripheral edema.]]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Since an absence of the physical signs of puberty and/or growth failure are often seen as normal variations in the population, these possible indications/symptoms of Turner syndrome may not be further investigated by many clinicians.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20361125&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; When karyotyping in order to exclude natural cell variation, a sufficient number of cells should be assessed. Whilst a sample of blood will often reveal Turner syndrome, an evaluation of a second tissue sample like the skin is recommend.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;1511250&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
[[#Glossary | '''DNA hybridisation''']] or [[#Glossary | '''fluorescent in situ hybridisation''']] should be conducted using a Y centromeric or short arm probe to detect for any additional Y or X chromosomal material.&lt;br /&gt;
If there is any of the Y chromosome present, this may initiate [[#Glossary | '''gonadoblastoma''']] development, another primary indicator of Turner syndrome. Hence the individual should have both a vaginal [[#Glossary | '''ultrasonograph''']] and colour [[#Glossary | '''Doppler sonograph''']] of their gonads to detect whether any Y chromosome fragments are present. These tests should be repeated regularly to monitor the patient for any malignancy, if a gonadectomy is not undertaken.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;16714725&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== Treatment ==&lt;br /&gt;
&lt;br /&gt;
=== Cardiac Treatment ===&lt;br /&gt;
&lt;br /&gt;
When patients are confirmed with Turner Syndrome, it is necessary to have a full cardiac evaulation including a physical exam and a echocardiogram. If cardiac abnormalities are found, monitoring by a cardiologist is recommended including regular blood pressure checks&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.  Coarctation of the aorta and hypoplastic left heart are quite often very serious issues are need to be dealt with surgically&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
If no abnormalities are found, blood pressure in Turner Syndrome patients is still routinely checked and a follow up cardiac evaulation is recommended for girls around the age of puberty (12-15)&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Speech ===&lt;br /&gt;
&lt;br /&gt;
Many Turner Syndrome patients have trouble with their speech. It is necessary for them to be refered to an Ear, Nose and Throat specialist and to a speech therapist to work on improve any speech problems&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Management of Puberty and Growth ===&lt;br /&gt;
The main treatment for growth and pubertal development is Hormone Replacement Therapy. Growth Hormone is adminstered to girls with abnormal growth, resulting in postive growth that is consistent with the expected height of the patient. It is adminstered as early as 2 years of age, but more often in the age group of 9-12 which is in line with the growth spurt that occurs during puberty&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Natural estrogen and progesterone are administered to girls when they reach the age of puberty in early adolescence. The age at which this treatment commences varies between individuals, as does the dosage. The adminsteration of estrogen will begin the process of puberty in girls affected by Turner Syndrome and it is important that this begins around the same time as her peers&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. The use of estrogen is often held off if the patient is also undergoing GH treatment so that maximum growth can be achieved, as estrogen will induce the fusion of the epiphyses and limit longitudinal bone growth&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
Around 10% of nonmosaic and 20% of mosaic women with Turner’s will have spontaneous menses (periods) and may not need to undergo Hormone Replacement to initiate puberty. Around 2-5% of these women will have the potential to fall pregnant naturally&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;. &lt;br /&gt;
&lt;br /&gt;
=== Appearance ===&lt;br /&gt;
&lt;br /&gt;
Extreme neck webbing maybe worrying or uncomfortable to women with Turner’s and in some cases plastic surgery is undertaken to fix this problem. Also if convex gorwth of toenails occurs, surgery is conducted so that the woman can wear normal shoes&amp;lt;ref&amp;gt;Hall JG, Sybert VP, Williamson RA, et al: Turner's syndrome-Clinical Genetics Conference, Children's Orthopedic Hospital and Medical Center, Seattle, and University of Washington (Specialty Conference). West J Med 1982 Jul; 137:32-44http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1273980/?page=3&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
=== Ongoing Adult Treatment ===&lt;br /&gt;
&lt;br /&gt;
Closely monitoring the health of Turner Syndrome adults is vital in the reduction of morbidity and mortality. An annual physical evalution should be undertaken which includes, blood pressure, heart auscultation, thyroid function, breast exam, and pap smear&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.  &lt;br /&gt;
&lt;br /&gt;
Particular attention needs to be taken in the area of weight and obesity in Turner Syndrome women due to their high risk of developing diabetes, osteoporosis and hypertension. Patients are to be encouraged to have a healthy lifestyle including healthy eating and exercise&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;.&lt;br /&gt;
&lt;br /&gt;
== Research ==&lt;br /&gt;
&lt;br /&gt;
===Current research===&lt;br /&gt;
&lt;br /&gt;
Since there is no preventative or cure, currently mainly research is being conducted into the areas of symptoms, possible treatments and risks involved with Turner syndrome.&lt;br /&gt;
&lt;br /&gt;
'''Growth hormone therapy in Turner syndrome: its affect on height, weight and stature.'''&lt;br /&gt;
*'''Growth hormone effect on body composition in Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21720878&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research findings from this paper conclude that people with Turner syndrome have lower height, higher BMI and higher proportional sitting height and leg length than that of the normal population, no matter whether they undergo hormone replacement therapy or not.&lt;br /&gt;
*'''Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21619701&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study has concluded that all adults with Turner syndrome had a similar quality of life regardless of whether they have a higher stature due to undergoing growth hormone replacement therapy or not. It was hypothesised that height differences did not affect quality of life as the individuals seemed to adapt to their own life challenges.&lt;br /&gt;
*'''Growth hormone treatment for Turner syndrome in Australia reveals that younger age and increased dose interact to improve response.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21375553&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: The research from this study found that growth hormone therapy works most optimally if given earlier in life and at a high dose in the first year of treatment.&lt;br /&gt;
*'''Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21398400&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: Another study which confers that the early introduction of growth hormone therapy is most efficacious. However the individual's glucose metabolism should be monitored as the hormones may affect glucose tolerance transiently.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Oestrogen hormone replacement therapy in Turner syndrome: the adequate dosage and its effect on uterine development, breast development, bone mineral density and sexual characteristics.'''&lt;br /&gt;
*'''Growth hormone plus childhood low-dose estrogen in Turner's syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21449786&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study indicates that undergoing both growth hormone and oestrogen therapy together may help increase the efficacy of each (increasing growth in height and pubertal development) more than when they act alone. &lt;br /&gt;
*'''Estrogen requirements in girls with Turner syndrome; how low is enough for initiating puberty and uterine development?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21793702&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This study assessed the minimal dosage of estrogen that is required to bring about desired pubertal development in girls with Turner syndrome.&lt;br /&gt;
*'''Puberty induction in Turner syndrome: results of oestrogen treatment on development of secondary sexual characteristics, uterine dimensions and serum hormone levels.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19200215&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: It was found that uterus of women with Turner syndrome who had undergone oestrogen was underdeveloped, however the exact cause of this needs to be further researched.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Pregnancy and Turner syndrome: evaluation and treatment of risks involved with pregnancy for: the mothers of Turner syndrome babies, for individuals with Turner syndrome and for the babies of individuals with Turner syndrome.'''&lt;br /&gt;
*'''Familial occurrence of Turner syndrome: casual event or increased risk?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21648298&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research examined whether there is a higher probability of having a second child with Turner syndrome and concluded that there is evidence in the small cohort that they used of a greater probability. It is suggested that a larger study be conducted to look further into these findings.that &lt;br /&gt;
*'''Obstetric Outcomes in Women with Turner Karyotype.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21865365&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: In this study it was found that women with Turner syndrome had shorter pregnancies than that of a control group, but no other marked difference was observed between the groups.&lt;br /&gt;
*'''Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21496813&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This paper examined a number of pregnant women with Turner syndrome, some who incidentally went through puberty even though they had no hormone replacement therapy and another group that had undertaken hormone replacement therapy. Though there were not many complications in either group, the groups were small in number and one mother did have cardiovascular difficulties later on in life. Hence a thorough examination of pregnant Turner syndrome women should be conducted prior to conception.&lt;br /&gt;
*'''Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20923275&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This article assessed the prognosis of pregnant women with Turner syndrome. They concluded that spontaneous pregnancy increases the risk of the baby having phenotypic and chromosomal abnormalities compared with women having assisted reproductive therapies.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Future research=== &lt;br /&gt;
&lt;br /&gt;
Future research needs to be conducted in the following areas: to follow up on the suggestions given in the conclusions of current research papers as outlined in the prior section and also into how the care system is functioning for Turner syndrome individuals as outlined below.&lt;br /&gt;
&lt;br /&gt;
*'''Medical Care of Girls with Turner Syndrome: Where are we Lacking?(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21454226&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: This research found that a large proportion (&amp;gt;50%) of people with Turner syndrome are not given adequate information upon diagnosis or screenings for complications and symptoms. Therefore it is suggested in order to rectify this issue that more education should be given to physicians on the syndrome&lt;br /&gt;
*'''Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with turner syndrome.(2011)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21752892&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; and '''Turner's syndrome requires multidisciplinary approach.(2009)'''&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19514616&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;: These article evaluate the need for a multidisciplinary approach to treatment of Turner syndrome. Since the symptoms can be wide ranging and severe, it is difficult but necessary for all of them to be examined in each individual. Hence a greater care plan for individuals should be implemented upon diagnosis.&lt;br /&gt;
&lt;br /&gt;
== Glossary ==&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Alpha-fetoprotein''' is a protein with an unknown function. It makes up, up to one third of the protein serum levels found in the second trimester of pregnancy and in neural tube defects, these alpha-fetoprotein levels are elevated. &amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Amniocentesis''' is a prenatal diagnostic tool. The procedure involves the sampling of amniotic fluid from the amniotic sac using a syringe, that is then tested for a number of abnormalities. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Brachycephaly''' is a condition where the coronal suture of the skull fuses prematurely. Since the skull is unable to expand any further in the anterior-posterior directions due to this closure, it grows to an abnormal size in in the lateral dimension.&amp;lt;ref&amp;gt;Flint, P 2010, ''Flint: Cummings Otolaryngology: Head &amp;amp; Neck Surgery, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-323-05283-2..00186-5--s0045&amp;amp;isbn=978-0-323-05283-2&amp;amp;uniqId=282726024-5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Coarctation''' of the aorta is an abnormality where the aorta is constricted at one or various sections. This can be caused by genetic and/or environmental factors.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Chorionic villous sampling''' is a prenatal diagnostic tool which can be used from 7 weeks after fertilisation. It is used to test for a number of chromosomal abnormalities including X-linked and metabolic disorders.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 15 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Cystic hygroma''' is a prenatal abnormality where fluid builds up in the posterior portion of the neck. The body may or may not relieve itself naturally of this accumulation of fluid after birth. &amp;lt;ref&amp;gt;Gabbe, S 2007, ''Gabbe: Obstetrics: Normal and Problem Pregnancies, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-0-443-06930-7..50011-6--cesec51&amp;amp;isbn=978-0-443-06930-7&amp;amp;uniqId=282726024-10&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''DNA-DNA hybridisation''' is a technique used to compare the similarities and differences between two sets of genes.&amp;lt;ref&amp;gt;Long, S 2009, ''Bradley: Neurology in Clinical Practice, 5th ed.Long: Principles and Practice of Pediatric Infectious Diseases Revised Reprint, 3rd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X&amp;amp;isbn=978-0-7020-3468-8&amp;amp;uniqId=282726024-19#4-u1.0-B978-0-7020-3468-8..C2009-0-41479-X--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Doppler sonography''' uses the doppler effect to help image and measure blood flow pattern in the patient.&amp;lt;ref&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Estriol''' is a hormone that is produced in greater amounts during pregnancy especially in the second and third trimester. One of its main functions is to assist with blood flow in the placenta and uterus.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Gametes''' are reproductive (sex) cells (ie: eggs and sperm) that can unite to form a new cell called a zygote. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6&amp;amp;isbn=978-0-443-06811-9&amp;amp;uniqId=283289096-4#4-u1.0-B978-0-443-06811-9..10001-6--b0020&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Gonadoblastoma''' is an abnormal proliferation of gonadal cells, that may or may not be malignant.&amp;lt;ref&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Haploid''' is the status of a cell having only a single set of unpaired chromosomes, or half the number of chromosomes contained in typical body cells. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10019-3--sec5&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208594256&amp;amp;uniqId=283289096-7#4-u1.0-B978-0-443-06811-9..10019-3--sec5&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''hCG''' is the abbreviation for human chorionic gonadotropin. It is a hormone that functions in the early stage of pregnancy to maintain the blood supply to the corpus luteum.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Homologous chromosomes''' are pairs of chromosomes, one each obtained from maternal and paternal gametes.  46 total chromosome complements are within an organism, 22 pairs of which are homologous chromosomes (called autosomes); the other 2 chromosomes are the sex chromosomes. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6--sec7&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208599219&amp;amp;uniqId=283289096-10#4-u1.0-B978-0-443-06811-9..10001-6--sec9&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
'''Hypoplasia''' is when an organ or tissue is not completely developed.&amp;lt;ref&amp;gt;Wein, A 2011, ''Wein: Campbell-Walsh Urology, 10th. ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4160-6911-9..00156-0--s0040&amp;amp;isbn=978-1-4160-6911-9&amp;amp;uniqId=282726024-29 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Inhibin A''' is a peptide produced by the ovaries and acts to restrain the production of follicle-stimulating hormone.&amp;lt;ref&amp;gt;Melmed, S 2011, ''Melmed: Williams Textbook of Endocrinology, 12th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0324-5..00045-6&amp;amp;isbn=978-1-4377-0324-5&amp;amp;uniqId=282726024-25 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Karyotype''' is an individual's set of chromosomes, both their number and appearance.&amp;lt;ref&amp;gt;McPherson, R 2011, ''McPherson: Henry's Clinical Diagnosis and Management by Laboratory Methods, 22nd ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?about=true&amp;amp;eid=4-u1.0-B978-1-4377-0974-2..C2009-0-45915-4--TOP&amp;amp;isbn=978-1-4377-0974-2&amp;amp;uniqId=282556246-14 &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Meiosis''' is the specific process of cell division within sex cells which halves the number of chromosomes in the cells through via two cell divisions; this is specific to germ cells only, creating haploid gametes (sex cells) from diploid cells. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--cesec2&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
'''Monosomy''' is a condition wherein a specific chromosome is completely missing within one gamete that combines with a normal gamete to form a zygote; a chromosome has no homologue, or matching chromosome, to pair with. &amp;lt;ref&amp;gt;Schoenwolf, G.C., Bleyl, S.B., Brauer, P.R. and Francis-West, P.H 2009 “Larsen’s Human Embryology”,  4th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-443-06811-9..10001-6--sec15&amp;amp;isbn=978-0-443-06811-9&amp;amp;sid=1208595822&amp;amp;uniqId=283289096-8#4-u1.0-B978-0-443-06811-9..10001-6--sec41&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Mosaicism''' is when a particular type or all cells of an individual do not have the same genetic makeup. This is caused by a mutation during embryonic cell division.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11443168&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Nondisjunction''' is the failure of chromosome pairs to separate entirely during either stage of Meiosis. &amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: The Developing Human, 8th ed.'', ebook, accessed 22 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50005-0--cesec27&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=283289096-2#4-u1.0-B978-1-4160-3706-4..50005-0--spara33&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Oligohydramnios''' is a prenatal condition, where there is an insufficient amount of amniotic fluid.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Polyhydramnios''' is a prenatal condition, where there is an excessive amount of amniotic fluid.&amp;lt;ref&amp;gt;Moore, K &amp;amp; Persaud, T 2007, ''Moore &amp;amp; Persaud: Before We Are Born, 7th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-1-4160-3705-7..X5001-3--TOP&amp;amp;isbn=978-1-4160-3705-7&amp;amp;about=true&amp;amp;uniqId=282556246-15&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Random assortment'''&lt;br /&gt;
&lt;br /&gt;
'''Recombination''' is the process which by genetic material is crossed over and switched between two segments of DNA which adds to the genetic diversity of the genome.&lt;br /&gt;
&lt;br /&gt;
'''SHOX gene''' is the short stature homeobox gene, that when deficient frequently results in short stature.&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21325865&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
'''Sister chromatids'''&lt;br /&gt;
&lt;br /&gt;
'''Ultrasonography''' is a medical technique that employs ultrasound frequencies to visualise a patient's internal bodily structure.&amp;lt;ref&amp;gt;Bradley, W 2008, ''Bradley: Neurology in Clinical Practice, 5th ed.'', ebook, accessed 20 September 2011 from MD Consult Australia, http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-0-7506-7525-3..X5001-8&amp;amp;isbn=978-0-7506-7525-3&amp;amp;uniqId=282726024-17#4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
== References ==&lt;br /&gt;
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{{2011Projects}}&lt;/div&gt;</summary>
		<author><name>Z3217043</name></author>
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	<entry>
		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=User:Z3217043&amp;diff=73234</id>
		<title>User:Z3217043</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=User:Z3217043&amp;diff=73234"/>
		<updated>2011-09-29T01:21:55Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: &lt;/p&gt;
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== LAB ATTENDANCE ==&lt;br /&gt;
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&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:09, 1 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:09, 25 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:07, 18 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:40, 11 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 11:11, 4 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|Z3217043]] 12:55, 28 July 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 8 ==&lt;br /&gt;
&lt;br /&gt;
Group 2 Peer Review&lt;br /&gt;
&lt;br /&gt;
:*The first three sentences about congenital disease is misplaced. This should be in your glossary, not in your very first sentences. &lt;br /&gt;
&lt;br /&gt;
:*The common symptoms could be left out of the introduction and discussed in the appropriate section. &lt;br /&gt;
&lt;br /&gt;
:*Written like an essay rather than a webpage. Language such as “for example” not necessary. &lt;br /&gt;
&lt;br /&gt;
:*Clinical Diagnosis was well structured and good use of pictures. &lt;br /&gt;
&lt;br /&gt;
:*Clinical Manifestations could be simplified slightly in the table. &lt;br /&gt;
&lt;br /&gt;
:*Some references need to be adjusted rather than just a web address.&lt;br /&gt;
&lt;br /&gt;
Group 3 Peer Review&lt;br /&gt;
&lt;br /&gt;
:*The first paragraph is not necessary, talk about Klinefelter’s specifically not about sex chromosomes. This can be discussed further in the webpage. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs and other formatting looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*Great historic information but could be integrated into the timeline instead of having large paragraphs and a timeline. &lt;br /&gt;
&lt;br /&gt;
:*Really liked “other similar disorders”. Great idea. &lt;br /&gt;
&lt;br /&gt;
:*Some references need to be fixed so there is not double ups in the reference list.&lt;br /&gt;
&lt;br /&gt;
Group 4 Peer Review&lt;br /&gt;
&lt;br /&gt;
:* History could be adapted into the timeline. Unnecessary for both.&lt;br /&gt;
&lt;br /&gt;
:*The table of medications in treatments is slightly hard to follow. Perhaps some use of bolding or different font sizes would make it easier to read. &lt;br /&gt;
&lt;br /&gt;
:* Great use of images. Make sure they are formatted correctly. In the Tetrabenezine section the image is large and cuts off one sentence which is then placed under the image which makes it look like a caption.&lt;br /&gt;
&lt;br /&gt;
:* Some references are missing entirely. Make sure the referencing is uniform. Review list and fix up double references. &lt;br /&gt;
&lt;br /&gt;
Group 5 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*The lone sentence at the beginning of the history is unnecessary. &lt;br /&gt;
&lt;br /&gt;
:*Essay language such as “for example” is a bit out of place on a wiki page. Tailor language to a web page. &lt;br /&gt;
&lt;br /&gt;
:*In the epidemiology section some statements are not referenced. Where are these ‘examples’ coming from? &lt;br /&gt;
&lt;br /&gt;
:*Research section would benefit from the bolding of paper headings or authors names. &lt;br /&gt;
&lt;br /&gt;
:*Glossary could be expanded, very minimal. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. &lt;br /&gt;
&lt;br /&gt;
Group 6 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*Introduction does not flow very well. Sentences are very choppy. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit from a timeline rather than paragraphs as it is a bit hard to follow. &lt;br /&gt;
&lt;br /&gt;
:*In the epidemiology and symptoms sections need some more content. Seems very minimal. Also images? &lt;br /&gt;
&lt;br /&gt;
:*Diagnostic section needs the rest of the information added to its table. “Insert text here”. Also use of bolding or different font sizes would benefit this table. &lt;br /&gt;
&lt;br /&gt;
:*Glossary could be expanded, very minimal. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. &lt;br /&gt;
&lt;br /&gt;
Group 7 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit by placing the information into the timeline rather than paragraphs as it is a bit hard to follow. &lt;br /&gt;
&lt;br /&gt;
:*In the epidemiology, aetiology and complications sections need some more content. Seems very minimal. The table in aetiology could be explained much better. &lt;br /&gt;
&lt;br /&gt;
:*Seems to be too many sections with only a small amount of content. These could be merged as some headings fit under a broader heading. This would make the page seem more content filled and give it a better flow. &lt;br /&gt;
&lt;br /&gt;
:*Glossary could be expanded. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. Double ups need to be fixed. &lt;br /&gt;
&lt;br /&gt;
Group 8 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit by placing the information into the timeline rather than paragraphs as it is a bit hard to follow. Could also be expanded. &lt;br /&gt;
&lt;br /&gt;
:*In the epidemiology section the subheadings do not present the information in the best way possible. It makes it look like there is a lack of research into this area. Perhaps combining into paragraphs, or adding more information to each subheading. &lt;br /&gt;
&lt;br /&gt;
:*The pathogenesis section needs some additional information. &lt;br /&gt;
&lt;br /&gt;
:*Further explanation of terms in the symptoms section is needed as the web page is aimed at those that may not have a clinical knowledge. &lt;br /&gt;
&lt;br /&gt;
:*Research could be summarised and papers talked about rather than just listing papers of current research. &lt;br /&gt;
&lt;br /&gt;
:*Glossary is extensive but would be more appropriate following the information on the page rather than after the references as it gets forgotten about. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. Double ups need to be fixed. &lt;br /&gt;
&lt;br /&gt;
Group 9 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit by placing the information into the timeline rather than paragraphs as it is a bit hard to follow. &lt;br /&gt;
&lt;br /&gt;
:*In the diagnosis section each of the hallmark symptoms could be further explained rather than just listed. &lt;br /&gt;
&lt;br /&gt;
:*The management steps could be explained rather than just listed. Not enough information in this section. Treatment is very choppy, should be written in paragraphs not sentences. &lt;br /&gt;
&lt;br /&gt;
:*Research could be summarised and papers talked about rather than just listing papers of current research or individuals that are researchers. &lt;br /&gt;
&lt;br /&gt;
:*Glossary needs to be finished. If you didn’t have time, should have gotten rid of terms. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. Several different styles of referencing used, just have one. &lt;br /&gt;
&lt;br /&gt;
Group 10 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit by placing the information into a timeline rather than paragraphs as it is a bit hard to follow. &lt;br /&gt;
&lt;br /&gt;
:*Epidemiology section could be expanded and written in more flowing way rather than long sentences. &lt;br /&gt;
&lt;br /&gt;
:*Needs more images, lots of large blocks of text. And images need to be formatted into the text as formatting currently looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*Further Research could be added, for example papers or groups that are researching as currently it is just being referred to. &lt;br /&gt;
&lt;br /&gt;
:*Glossary could be expanded. &lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. Double ups need to be fixed. Also perhaps research from MORE sources is necessary as there is only a few when you cut out the double references. &lt;br /&gt;
&lt;br /&gt;
Group 11 Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement&lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*History section would benefit by placing the information into a timeline rather than paragraphs as it is a bit hard to follow. Having both a history section and a timeline section makes no sense. &lt;br /&gt;
&lt;br /&gt;
:*Syndromes and anomalies has sections where “text will be added soon”. Definitely needs more information.Symptoms need to be explained instead of just listed. &lt;br /&gt;
&lt;br /&gt;
:*Needs more images, lots of large blocks of text. And images need to be formatted into the text as formatting currently looks awkward. Text needs to be grammatically corrected and formatted into paragraphs. &lt;br /&gt;
&lt;br /&gt;
:*Further Research could be added, for example papers or groups that are researching as currently it is just being referred to. Listing the name of a paper isn’t discussing it. &lt;br /&gt;
&lt;br /&gt;
:*Glossary could be expanded. &lt;br /&gt;
&lt;br /&gt;
:*Where are the references? Where did you get this information from? Large blocks of text without references. References need to be fixed. There are many that are just a web address. Full citation is needed. Double ups need to be fixed. Links to pubmed could be good. Also perhaps research from MORE sources is necessary as there is only a few when you cut out the double references. &lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 7 ==&lt;br /&gt;
&lt;br /&gt;
1. Are satellite cells (a) necessary for muscle hypertrophy and (b) generally involved in hypertrophy? &lt;br /&gt;
&lt;br /&gt;
a)Satellite cells are not necessary for hypertrophy.&lt;br /&gt;
&lt;br /&gt;
b)They are generally involved in hypertrophy. &lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
2. Why does chronic low frequency stimulation cause a fast to slow fibre type shift? &lt;br /&gt;
&lt;br /&gt;
It causes the fast to slow fibre shift, as the fast fibres become adapt and become more like slow fibres in order to work more efficently with the low frequency stimulation.&lt;br /&gt;
&lt;br /&gt;
Peer Review&lt;br /&gt;
&lt;br /&gt;
*The linking of words to the glossary is good.&lt;br /&gt;
*Some pictures are formatted in a way that the page doesn't flow very well. &lt;br /&gt;
*Formatting is ok. Some areas where there is large empty spaces.&lt;br /&gt;
*Good amount of pictures and text.&lt;br /&gt;
*Informative content.&lt;br /&gt;
--[[User:Z3217043|z3217043]] 10:55, 22 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 6 ==&lt;br /&gt;
&lt;br /&gt;
1. The palatal shelves fuse in week 9.&lt;br /&gt;
&lt;br /&gt;
2. The chicken model was used.&lt;br /&gt;
&lt;br /&gt;
3. The abnormality is Tetralogy of Fallot.&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 5 ==&lt;br /&gt;
&lt;br /&gt;
The most common side is the left side. This is due to the mutation in the pulmonary development gene which causes diaphragmatic hernia. It causes hernia as the left pleural cavity is sealed off at a later stage of development. &lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 4 ==&lt;br /&gt;
&lt;br /&gt;
1. It is continuous with the bladder.&lt;br /&gt;
&lt;br /&gt;
2. Ductus venosus in the liver, Oval foramen between the atria and Ductus arteriosus from the left pulmonary artery to the dorsal aorta (6th arterial arch from the left). &lt;br /&gt;
&lt;br /&gt;
3. I will be doing the history and treatment of thalassemia.&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 10:31, 25 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 3 ==&lt;br /&gt;
&lt;br /&gt;
1. Folic Acid and Iodine&lt;br /&gt;
&lt;br /&gt;
2. [[File:Thalassemia_pic.jpg|200px|thumb|left|Miotic Cell Defects]] --[[User:Z3217043|z3217043]] 11:06, 18 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 2 ==&lt;br /&gt;
&lt;br /&gt;
1. Identify the ZP protein that spermatozoa binds and how is this changed (altered) after fertilisation. &lt;br /&gt;
&lt;br /&gt;
ZP3, it initiates the acrosome reaction, where acrosomal cortical granules are exocytosed from the egg. The granules modify the zona pellucida by making it unable to bind with further sperm and also hardened it.&lt;br /&gt;
&lt;br /&gt;
2. Review articles&lt;br /&gt;
&lt;br /&gt;
[http://www.ncbi.nlm.nih.gov.wwwproxy0.library.unsw.edu.au/pubmed/21806986 A rapid detection for α-thalassemia by PCR combined with dissociation curve analysis]&lt;br /&gt;
&lt;br /&gt;
[http://www.ncbi.nlm.nih.gov.wwwproxy0.library.unsw.edu.au/pubmed/21239835 Hematopoietic stem cell transplantation in thalassemia]&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 20:31, 10 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
== Lab Assessment 1 ==&lt;br /&gt;
&lt;br /&gt;
1. Robert G Edwards&lt;br /&gt;
&lt;br /&gt;
2. B Klln, O Finnstrm, A Lindam, E Nilsson, K-G Nygren, P Otterblad Olausson Trends in delivery and neonatal outcome after in vitro fertilization in Sweden: data for 25 years. Hum. Reprod.: 2010, 25(4);1026-34 PMID:20139431 &lt;br /&gt;
&lt;br /&gt;
Paper discussing the decrease in unwanted outcomes in IVF in Sweden.&lt;br /&gt;
&lt;br /&gt;
3. Congenital Dislocated Hip and Cleft Palate&lt;br /&gt;
&lt;br /&gt;
--z3217043 20:58, 3 August 2011 (EST)&lt;/div&gt;</summary>
		<author><name>Z3217043</name></author>
	</entry>
	<entry>
		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=Talk:2011_Group_Project_11&amp;diff=73059</id>
		<title>Talk:2011 Group Project 11</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=Talk:2011_Group_Project_11&amp;diff=73059"/>
		<updated>2011-09-29T00:08:17Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: &lt;/p&gt;
&lt;hr /&gt;
&lt;div&gt;'''Group 11:''' [[User:z3308965]] | [[User:z3292953]] | [[User:z3308968]] | [[User:z3272325]] | [[User:z3284061]]&lt;br /&gt;
&lt;br /&gt;
{{2011GroupDiscussionMH}}&lt;br /&gt;
&lt;br /&gt;
Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward.&lt;br /&gt;
&lt;br /&gt;
:*History section would benefit by placing the information into a timeline rather than paragraphs as it is a bit hard to follow. Having both a history section and a timeline section makes no sense.&lt;br /&gt;
&lt;br /&gt;
:*Syndromes and anomalies has sections where “text will be added soon”. Definitely needs more information.Symptoms need to be explained instead of just listed. &lt;br /&gt;
&lt;br /&gt;
:*Needs more images, lots of large blocks of text. And images need to be formatted into the text as formatting currently looks awkward. Text needs to be grammatically corrected and formatted into paragraphs.&lt;br /&gt;
&lt;br /&gt;
:*Further Research could be added, for example papers or groups that are researching as currently it is just being referred to. Listing the name of a paper isn’t discussing it.&lt;br /&gt;
&lt;br /&gt;
:*Glossary could be expanded.&lt;br /&gt;
&lt;br /&gt;
:*Where are the references? Where did you get this information from? Large blocks of text without references. References need to be fixed. There are many that are just a web address. Full citation is needed. Double ups need to be fixed. Links to pubmed could be good. Also perhaps research from MORE sources is necessary as there is only a few when you cut out the double references. &lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 10:08, 29 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
== Peer review of Group Project 11 ==&lt;br /&gt;
Please include your reviews below this section, and nowhere else in this discussion. This is to facilitate easy reference later. Thank you.&lt;br /&gt;
&lt;br /&gt;
Group 11&lt;br /&gt;
&lt;br /&gt;
*Introduction – could use some referencing, an image if possible, and a brief introduction to the other sections of the page.&lt;br /&gt;
*History could go with Timeline as they are both related, the timeline could also be put into a table, but it’s fine the way it is (Y)&lt;br /&gt;
*Diagnosis is a well researched section, some great information here.&lt;br /&gt;
*Image under developmental staging could use a legend and could be formatted to add to the continuity of the page.&lt;br /&gt;
* ‘Types of Cleft Palate/Lip’ – dot points need to be fixed up, unilateral and bilateral should be formatted to the left, and dot points should follow under each sub-heading as per normal, an easy fix.&lt;br /&gt;
*Pathophysiology – ummm... “DRAWING!!! To be added soon.”....some references missing here.&lt;br /&gt;
*Genetic configuration – could include a student drawn image of the genes involved.&lt;br /&gt;
*Treatment – needs to be formatted better in order for it to be read easily.&lt;br /&gt;
*Current and future research needs more detail, glossary also needs a lot more entries.&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3331469|z3331469]] 08:37, 29 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
Group 11:&lt;br /&gt;
*Intro: Didn’t find it to be a fantastic read, could use an image and you also need to briefly expand on the other sections of the page very briefly.&lt;br /&gt;
&lt;br /&gt;
*History/timeline: These sections should be combined.  Perhaps don’t use double spacing between your dot points, as it’s making it look longer than it is. But some very interesting points.&lt;br /&gt;
&lt;br /&gt;
*Diagnosis: Would be best to place the diagnosis  after aetiology/pathophysiology, just a suggestion. Some excellent information nonetheless. The use of colour is great to see. &lt;br /&gt;
&lt;br /&gt;
*Development: Aetiology should have its own section and the details provided need to elaborated upon. Use an image of the gene perhaps.&lt;br /&gt;
&lt;br /&gt;
*Types of cleft-palate: image is very interesting and detailed.&lt;br /&gt;
&lt;br /&gt;
*Pathophysiology: Good use of colour. “DRAWING!!! To be added soon” nice to know that you’re enthusiastic about this drawing, but probably best if you didn't write this.&lt;br /&gt;
&lt;br /&gt;
*Genetic configuration: There’s no references here. This could be a subheading rather than a section on its own.&lt;br /&gt;
&lt;br /&gt;
*Treatment: references missing and need to elaborate on the dot-points. &lt;br /&gt;
&lt;br /&gt;
*Glossary: incomplete&lt;br /&gt;
&lt;br /&gt;
*Overall, the structure is poorly formatted. There are headings that should be sub headings and there are subheadings that should headings (eg: aetiology). References are missing, glossary is incomplete and some images are poorly referenced/copyrighted. In saying that, there was some excellent research but it just needs to be reorganised and tidied up. Good work so far.&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3290270|z3290270]] 02:12, 29 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Group 11: Cleft Palate/Lip&lt;br /&gt;
*Introduction: That is not an introduction, much more info needed, please expand.&lt;br /&gt;
*History &amp;amp; Timeline: Definitely combine these two sections. Put the timeline into a table would be nice, this would help remove all that spacing. The History section is pretty okay, maybe an image? &lt;br /&gt;
*Diagnosis: Very well done! Big improvement compared to the initial sections. There is a lot of content, but not overly so. The layout of the images and tables are well done. However, there are some minor punctuation errors, like missing fullstops, but other than that, well summarised!&lt;br /&gt;
*Development: Needs to have more info. Aetiology section is done well, but where are the references! Developmental Staging section seems to be targeting a specific audience, maybe  “dumb” it down a little for the rest to understand better.&lt;br /&gt;
*Pathophysiology: All the content seems to be there, just need a few images and maybe subheadings to make that block of text into something more appealing to read.&lt;br /&gt;
*Genetic Configuration: No references in this section! There should be a way to also clean up the layout and spacing, of 1) Womb environment and 2) External environment sub-part.&lt;br /&gt;
*Neuroembryology: No faults here, good job.&lt;br /&gt;
*Treatment: Plenty dot points, but no explanation, seems empty. Need references.&lt;br /&gt;
*Problems: Same as treatment, need more explanation per dot point, as well as references.&lt;br /&gt;
*Current and Future Research: Obviously needs much more info. &lt;br /&gt;
*Glossary: Getting there, many more words are required here.&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3332327|z3332327]] 01:29, 29 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
Peer review:&lt;br /&gt;
 &lt;br /&gt;
*brief introduction with not much development on other sections than epidemiology, please write more!&lt;br /&gt;
*history and timeline sections could be combined together? and also i think the timeline section could be a bit more brief, its just to give a bit of insight really.&lt;br /&gt;
*how about you rearrange the headings and put diagnosis after aetiology and pathophysiology.&lt;br /&gt;
*elaborate more on the verbose words in Syndromes and Anomalies associated with cleft e.g popliteal web and Velocardiofacial&lt;br /&gt;
*development section needs text, also some parts of aetiology could be elaborated e.,g indirect genetic factors&lt;br /&gt;
*formatting of pictures in between the sections needs to be worked on.&lt;br /&gt;
*Genetic section is good but it needs some pictures of the genes.&lt;br /&gt;
Treatment needs to be explained a bit more, adding text to pictures doesn't really help to understand what is happening.&lt;br /&gt;
*current and future research could be expanded.&lt;br /&gt;
*very small glossary&lt;br /&gt;
*multiple references and also no PMID links? &lt;br /&gt;
--[[User:Z3291423|Jasjit Walia]] 00:34, 29 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Peer Review for Group 11'''&lt;br /&gt;
&lt;br /&gt;
*The introduction is nowhere near interesting. Very short and needs to be expanded severely.&lt;br /&gt;
*History section provides interesting information in regards to ancient history, however there should be more contemporary history that shoul be explained in this section as it would make it better.&lt;br /&gt;
*Timeline is well constructed, well done.&lt;br /&gt;
*Information found in the diagnosis should be placed further down under aetiology and pathogenesis as it would make the flow of the page much better. However the information it has is well written&lt;br /&gt;
*Aswell the information in ‘Syndromes and Anomalies associated with cleft’ should be placed under etiology and pathogenesis. Information is informative and good use of pics with the text&lt;br /&gt;
*No work under development, either include information or totally remove it.&lt;br /&gt;
*First part of aetiology is not referenced at all. Please include references to support the information being presented.&lt;br /&gt;
*Image in the developmental staging section should have a caption to tell the reader what they are observing. Also it should be placed in a better position as it seems to overlap into the next section&lt;br /&gt;
*Under the types of cleft lips section, the list of the types of lips should be placed under the bottom paragraph as explaining the different types before listing the types is better to do.&lt;br /&gt;
*Fix the referencing for the image with the types of cleft palates.&lt;br /&gt;
*Under pathophysiology there is text which seems to be comments to the editors. Remove them when your completing your assignment&lt;br /&gt;
*The two paragraphs under the tables in pathophysiology seem to have no referencing. Please include it.&lt;br /&gt;
*This sentence doesnt make sense; ‘’ However, the y are known as contributors to process of prominences fusion’’&lt;br /&gt;
*Possibly include some images under genetic configuration.&lt;br /&gt;
*First half of the information under Neuroembryology and functional anatomy of craniofacial clefts should be placed under background information at the start of the page. It would make the page look better.&lt;br /&gt;
*Current research must be expanded upon  as its too short&lt;br /&gt;
*Glossary must be expanded upon, needs to be updated&lt;br /&gt;
*Referencing is not referenced properly as their is repetition in your referencing. Please fix.&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3291317|Z3291317]] 23:57, 28 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
'''Group 11'''&lt;br /&gt;
&lt;br /&gt;
Introduction: The introduction needs a lot more work. More detail required.&lt;br /&gt;
&lt;br /&gt;
History: The history and timeline could be collapsed into one section. It would look better without so much spacing between the paragraphs.&lt;br /&gt;
&lt;br /&gt;
Diagnosis: This section is well done but needs pictures.&lt;br /&gt;
&lt;br /&gt;
Etiology: This section could be expanded upon. I think it would be good if you explained how each of the developmental errors occur.&lt;br /&gt;
&lt;br /&gt;
Developmental staging: You could explain what the stages are. A non-embryology student might not understand the different stages.&lt;br /&gt;
&lt;br /&gt;
Types of cleft palate: The images are great and the text is good but I think this section would be better off in pathophysiology for example, not its own section.&lt;br /&gt;
&lt;br /&gt;
Pathophysiology: The text is good but again, more pictures are needed to break up the text.&lt;br /&gt;
&lt;br /&gt;
Genetics: This section could be explained in more detail. Pictures needed.&lt;br /&gt;
&lt;br /&gt;
Anatomy: This section is well done&lt;br /&gt;
&lt;br /&gt;
Treatment, problems and future directions: All of these sections look like a good start but each dot point needs to be explained in more detail. &lt;br /&gt;
&lt;br /&gt;
--[[User:Z3291324|z3291324]] 23:28, 28 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
'''Group 11 Peer Review'''&lt;br /&gt;
* Introduction is brief; and that's about all. Please try to write more; from what you have written here, it sounds more like an epidemiology section. The history section is slightly better although the timeline shouldn't be a new section of the page but a subheading of the history is inadequate. Also, don't double space, because there isn't enough important information here to justify the spacing.&lt;br /&gt;
* The section on Diagnosis is well set out, and is discussed well. The information in the table is well explained and those images that you have obtained with regards to the syndromes and anomalies associated with the cleft are very interesting images that summarise your information well. I like the layout of this particular section!&lt;br /&gt;
* Development section requires some text; the aetiology section could actually explain those ''indirect genetic factors with environmental factors or possibly just environmental factors''. How do these come about? Also make the types of cleft palate/lip a subsection of the development or slot it into pathophysiology; where it is at the moment is in a place where it doesn't exactly belong. THe information in cleft palate/lip is quite extensive and very interesting though!&lt;br /&gt;
* Still waiting for a student-drawn diagram, but this is understandable and make sure you copyright it when you do draw it! &lt;br /&gt;
* Genetic configuration; try to fix your formatting a little. Some bits of the formatting just need a better layout (and don't forget to space in your nutrition and drugs sections). Consider using more ====== &amp;lt;-- to get new subsections, which will also help. &lt;br /&gt;
* The neuroembryology section is truthfully the only section in all the projects which I have seen that relates the development back to the embryology course - well done! It is well explained and also seems to be the only section in which I actually don't mind the left-aligned image. Well done - I recommend this section stay the same! :)&lt;br /&gt;
* Treatment is well laid out; however, back to the pet hate - right-align the second image here because it doesn't look correct in the way that it has been set out now. Also try to explain the surgery slightly better as opposed to just dot-point the information and hope that we understand it.&lt;br /&gt;
* Problems associated with cleft palate - please try to write some more and explain as to why these problems occur due to variations from the normal morphology. eg. Speech issues due to the cleft palate because resonance cannot be achieved properly due to the continuity of the oral/nasal cavities.&lt;br /&gt;
* Current and Future research needs a lot more written on it - remember, this is where the research is headed and what can be hoped from people in the future who may suffer from this disease.&lt;br /&gt;
* Glossary is incomplete; references are repeated, and have you used more references than the number quoted? However, no worries about these issues as they are common across all projects.&lt;br /&gt;
* Overall, a project that has mixed amounts of contributions throughout it. Please ensure the quality of the project is uniformly excellent! Have you considered using tables and graphs to get some information across as well? Some sections also lack referencing; please make sure this is corrected as it is difficult to read any project without good scientific evidence.&lt;br /&gt;
--[[User:Z3288827|Leonard Tiong]] 22:48, 28 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
'''Group 11:'''&lt;br /&gt;
&lt;br /&gt;
•Very short introduction with no references. Maybe give a greater overview of what will be talked about throughout the page.&lt;br /&gt;
&lt;br /&gt;
•Good use of the picture in the timeline, but maybe this section and the history could be combined as it is quite long.&lt;br /&gt;
&lt;br /&gt;
•Some of the pictures used, such as the second picture in the types of cleft palate section disrupt the formatting of the page. Also in the treatment section, the second image seems to be in the incorrect position.&lt;br /&gt;
&lt;br /&gt;
•Quite a few sections lack referencing, particularly the genetic configuration and treatment sections that have no references at all. This does not provide the reader with the option to read on further or access the resources where you have collected your information from.&lt;br /&gt;
&lt;br /&gt;
•Lots of references are repeated&lt;br /&gt;
&lt;br /&gt;
•Overall, it seems like a lot of research has been done, though there are some formatting and referencing errors which will need to be corrected.&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3332183|z3332183]] 21:34, 28 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Group 11'''&lt;br /&gt;
&lt;br /&gt;
'''*The key points relating to the topic that your group allocated are clearly described.'''&lt;br /&gt;
Key points are there, but content is lacking especially in the introduction.&lt;br /&gt;
&lt;br /&gt;
'''*The choice of content, headings and sub-headings, diagrams, tables, graphs show a good understanding of the topic area.'''&lt;br /&gt;
Timeline should be included under 'history' &lt;br /&gt;
Glossary is limited. in Genetic Configuration, the part about 4 sections, number 1 and 2 are together - are they meant to be presented like this? it looks out of place when 3 and 4 have their own paragraph each. It would be nice to have a subheading for pathology of cleft lip and cleft palate to separate the two for easy location.&lt;br /&gt;
&lt;br /&gt;
'''*Content is correctly cited and referenced.'''&lt;br /&gt;
References are duplicated. no references in treatment or Problems associated with Cleft Palate. fix up reference for File:Variations of Cleft Lip or Palate.jpg, File:Bilateral Cleft Lip Variations.jpg and File:Furlow Z-plasty technique.jpg.&lt;br /&gt;
&lt;br /&gt;
'''*The wiki has an element of teaching at a peer level using the student's own innovative diagrams, tables or figures and/or using interesting examples or explanations.'''&lt;br /&gt;
File:NeuromericOrganization.jpg and File:Veau-Wardill-Kilner technique of palate repair in a unilateral cleft lip and palate.jpg needs a description.&lt;br /&gt;
&lt;br /&gt;
'''*Evidence of significant research relating to basic and applied sciences that goes beyond the formal teaching activities.'''&lt;br /&gt;
Current and future research is very limited, does not show any research that extends beyond formal teaching.&lt;br /&gt;
&lt;br /&gt;
'''*Relates the topic and content of the Wiki entry to learning aims of embryology.'''&lt;br /&gt;
Link to embryology present in identifying risks in cleft plate and lip development. Developmental staging also covers it.&lt;br /&gt;
&lt;br /&gt;
'''*Develops and edits the wiki entries in accordance with the above guidelines.'''&lt;br /&gt;
Some evidence of developing wiki page with guidelines. will help if changes are made.&lt;br /&gt;
&lt;br /&gt;
--z3329495 21:29, 28 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
'''Group 11: Peer Assessment'''&lt;br /&gt;
* You have picked an interesting topic, surely you can write a more engaging introduction&lt;br /&gt;
* Some of you headings and subheadings need rearrangement&lt;br /&gt;
* The history section is good but takes a bid too much space. May be you can compress it a bid, make it a little shorter?&lt;br /&gt;
* Some of you information is double&lt;br /&gt;
* The neuroembryology and functional anatomy of craniofacial cleft is interesting and well written&lt;br /&gt;
* Good diagnostic section. An image would be nice&lt;br /&gt;
* Some more references in the treatment and associated problems section are needed&lt;br /&gt;
* You could put some more words into the glossary&lt;br /&gt;
* You have some &amp;quot;double referencing&amp;quot;&lt;br /&gt;
* Overall, you have an interesting page. Good work. You just need a little more formatting, referencing and fixing here and there.--z3279511 17:16, 28 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
'''Group 11'''&lt;br /&gt;
&lt;br /&gt;
*Introduction: needs more contend&lt;br /&gt;
&lt;br /&gt;
*History: the contend is ok, references are missing, include the timeline&lt;br /&gt;
&lt;br /&gt;
*Diagnosis: well done&lt;br /&gt;
&lt;br /&gt;
*Syndromes and anomalies: the contend looks fine, some parts are missing, the conditions would look better in a table&lt;br /&gt;
&lt;br /&gt;
*Development:? &lt;br /&gt;
&lt;br /&gt;
*Aetiology: looks fine, but are there references missing?&lt;br /&gt;
&lt;br /&gt;
*What staging are you talking about?&lt;br /&gt;
&lt;br /&gt;
*Types: well done&lt;br /&gt;
&lt;br /&gt;
*Pathophysiology: unfinished, otherwise good, maybe add some subheadings for more structure&lt;br /&gt;
&lt;br /&gt;
*Configuration: references missing, what is the third paragraph womb or external environment? &lt;br /&gt;
&lt;br /&gt;
*Neuroembryology: well done, nice image&lt;br /&gt;
&lt;br /&gt;
*Treatment: references missing, maybe add a detailed outline of the most frequent techniques&lt;br /&gt;
&lt;br /&gt;
*Problems: references missing&lt;br /&gt;
&lt;br /&gt;
*Research: add more contend&lt;br /&gt;
&lt;br /&gt;
*Glossary: incomplete&lt;br /&gt;
&lt;br /&gt;
*Rearrange the order of headings&lt;br /&gt;
&lt;br /&gt;
*Some images lack a copyright notice&lt;br /&gt;
&lt;br /&gt;
*Textbooks ?&lt;br /&gt;
--[[User:Z3387190|Z3387190]] 14:34, 28 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Group 11'''&lt;br /&gt;
&lt;br /&gt;
*Introduction is way too short and should include an image&lt;br /&gt;
*History would work better just in a timeline&lt;br /&gt;
*I think you should rearrange your headings from here on to make your project flow in a logical way&lt;br /&gt;
*Current/future research should be extended and explained&lt;br /&gt;
*Glossary needs to be extended&lt;br /&gt;
*I also can’t seem to find your student drawing&lt;br /&gt;
*Some sections repeat some information- go through this&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Comments on Group Project 11===&lt;br /&gt;
'''Strengths:'''&lt;br /&gt;
*Good use of tables especially under Diagnosis.&lt;br /&gt;
*Some of the images are quite good especially on the correcting process (surgery) for cleft palate. &lt;br /&gt;
'''Weaknesses:'''&lt;br /&gt;
*Placement of headings is not quite appropriate. It gives the page a disjointed feel to it.&lt;br /&gt;
*There is a lack of use of subheadings. &lt;br /&gt;
*The introduction did not give an overview of the condition. &lt;br /&gt;
'''Specific corrections:'''&lt;br /&gt;
*Timeline should be a subheading under History section&lt;br /&gt;
*Introduction should answer these questions: What is it characterised by? How does it appear on individuals with this condition? What causes it? etc. It will be good to include a picture/ cartoon of an individual with cleft palate and lip.&lt;br /&gt;
*Duplication of references should be avoided.&lt;br /&gt;
*Some of the references are not formatted correctly.&lt;br /&gt;
*For current and future research, it will be good to give a brief synopsis (2-3 sentences) of each point so that readers can get the gist of the direction of cleft palate and lip research that it is heading towards.&lt;br /&gt;
*For genetic configuration, it might be better to use subheadings to point out the 4 different types of environmental factors. &lt;br /&gt;
*Do include a student-drawn image.&lt;br /&gt;
*Some words that should be included in the glossary are Malocclusion, nodules etc.&lt;br /&gt;
*It would be better to make use of tables under treatment.&lt;br /&gt;
&lt;br /&gt;
--Z3389806 11:50, 27 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Group 11 Peer Assessment'''&lt;br /&gt;
*Introduction needs to be expanded a bit seems like the description of the incidence&lt;br /&gt;
*History needs together with the timeline which would benefit the section, where the timeline is done properly with the image of the founder though time line better together then separated&lt;br /&gt;
*Diagnosis is well done though images would benefit this section &lt;br /&gt;
*Syndromes and anomalies should be expanded a bit though good linkage of the images to the rare cases  *Development should be changed to aetiology instead&lt;br /&gt;
*Pathophysiology needs more images though nice use of tables&lt;br /&gt;
*Genetic configuration needs references to back up the evidence otherwise is just statements&lt;br /&gt;
*Neurology greatly structured and well presented and has image to liven the section&lt;br /&gt;
*Treatment generally well structured though ex[and more on the surgical aspect as well problems associated with cleft palate &lt;br /&gt;
*Current and future research needs more information as well separation between the current and the future research.&lt;br /&gt;
*Glossary needs to be expanded further and linked either to section or bolded throughout the web page.&lt;br /&gt;
*References need a little tweaking with the removal of the repeats, also no other information in the sub heading textbooks&lt;br /&gt;
z3332250 00:01, 27 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Group 11 Critique'''&lt;br /&gt;
&lt;br /&gt;
#•	Introduction is far too short and more work needs to be done&lt;br /&gt;
#•	History is also very short and more information needs to be added&lt;br /&gt;
#•	The timeline is quite good&lt;br /&gt;
#•	Diagnosis is alright&lt;br /&gt;
#•	Syndromes and anomalies associated with cleft is detailed. Good job!&lt;br /&gt;
#•	Development is good. Maybe use more images&lt;br /&gt;
#•	The other sections are good, up until current research. More work needs to be done here as there is not enough information&lt;br /&gt;
#•	Glossary is too short&lt;br /&gt;
#•	Is the gallery really needed if you have images illustrating your text?&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3289991|Robert Klein]] 16:38, 26 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
''Cleft Palate and Lip''&lt;br /&gt;
&lt;br /&gt;
*Your introduction needs to be ''seriously'' expanded. What exactly is it? Defining features? Anything?&lt;br /&gt;
*'History' could be expanded on a bit, but the timeline looks good.  Try to take the spaces out between each date of the timeline, at the moment it's a bit unneccesarily long&lt;br /&gt;
*'Diagnosis' would fit better towards the end of the page closer to treatment.  It is a bit hard to understand before we've even had a proper description of the disorder and clinical symptoms&lt;br /&gt;
*Though the information in 'Diagnosis' is quite good, the table is also quite interesting&lt;br /&gt;
*'Syndromes and Anomalies Associated with Cleft', title should fixed up 'Associated Syndromes and Anomalies' sound better.  It also needs to be finised!&lt;br /&gt;
*There's not even a single reference in 'Atiology'&lt;br /&gt;
*'Developmental Staging' are you refering to Carnegie stages? If so, say so.&lt;br /&gt;
*Reference!! And finish 'Pathophysiology'.  You won't get the marks for just saying 'it will be done soon', think of the rest of your group&lt;br /&gt;
*There is not a ''single'' reference in 'Genetic Configuruation', so where then did you get your information?  This section also needs images, and a bit of formating.  There isn't much consistency in the use of captial letters for 'Cleft Lip'. Either use it or don't, &amp;quot;seems to be related to the cause of Cleft palate and cleft lip incidence&amp;quot; and throughout the page aswell&lt;br /&gt;
*For 'Treatment' and 'Complications' a table would be good.  It is not very visually appealing as a long list.  That way you can incorporate some more information as well.&lt;br /&gt;
*'Problems Associated with Cleft Palate' would be better positioned higher up in the page.  How do you know what your treating if you don't even know the associated problems. Reference!&lt;br /&gt;
*'Current and Future Research' really needs to be expanded.  There is no where near enough information here&lt;br /&gt;
*The page is coming along, but it really needs to be finished, there are far too many gaps, and no where near enough references.  Try reading multiple papers before adding information.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Group 11'''&lt;br /&gt;
* Interesting topic with good use of pictures, you guys have a great topic with a lot of interesting areas to discuss. &lt;br /&gt;
* The headings could be reorganised  for example diagnosis could come after explaining in detail what cleft lips are and how they are formed embryonically. &lt;br /&gt;
* The introduction should introduce the main topics that you will be discussing but only briefly like what cleft palate is.. the information in the intro would fit nicely in epidemiology. (maybe you could add this section in).&lt;br /&gt;
* History section is very interesting I liked the extra research.&lt;br /&gt;
* The time line takes up a lot of room maybe condense it into a table format. &lt;br /&gt;
* Development?? is this a section?? &lt;br /&gt;
* maybe put the type of cleft lip/palate into a table with a pictures corresponding to the specific type. &lt;br /&gt;
* Make sure all acronyms are in the glossary.&lt;br /&gt;
* It would be nice if the colours of the tables were continuous throughout the page. &lt;br /&gt;
* Neuroembryology and functional anatomy of craniofacial clefts section is very well written and enjoyable to read. &lt;br /&gt;
* Treatment &amp;amp; Problems associated with Cleft Palate sections have no referencing. It would strengthen and give your page some authority if you cited where your information was from. &lt;br /&gt;
* A little summary for your future and current research would make this section a bit more interesting rather then just using dot points.  &lt;br /&gt;
* Make sure your references aren't doubled. &lt;br /&gt;
* Ensure your pictures are referenced correctly.&lt;br /&gt;
* Furlow Z-plasty technique picture is positioned so that it interrupts the flow of reading maybe rethink the position of this picture. &lt;br /&gt;
* Variations of Cleft Lip or Palate picture is great and I think it could be more of a &amp;quot;key &amp;quot; picture on your page maybe centralise it?.&lt;br /&gt;
* No student drawing.&lt;br /&gt;
* Gallery seems a little irrelevant.&lt;br /&gt;
* More needs to be added into glossary eg. Otitis media&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Group 11&lt;br /&gt;
* The introduction is no where near long enough and needs an image&lt;br /&gt;
* History needs to be expanded and dates made more obvious to the reader&lt;br /&gt;
* Timeline- should be combined with history. So that my previous point is not needed&lt;br /&gt;
* The order of your subheadings is a little confusing&lt;br /&gt;
* Some sections double up the information&lt;br /&gt;
* Current research needs to be completed, as do other sections&lt;br /&gt;
* The glossary needs to be expanded&lt;br /&gt;
* The project has started to take form but there is work to go to complete the information and format it into a more easily accessible piece of work.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
*'''Introduction''': Too short. Also, how come there are no references? How about starting with a brief anatomical description?&lt;br /&gt;
*'''History''': No reference for the first paragraph? I like the idea of mentioning Plato, but could you then also expand a little bit more on his thoughts? Also, what was the explanation offered by Philippe Frederick Blandin?&lt;br /&gt;
*'''Timeline''': Looks good to me, though some terms should be explained in the glossary.&lt;br /&gt;
*'''Diagnosis''': I'm not sure I'd make this follow on immediately from the Timeline. I would put this section between Types of Cleft Palate/Lip &amp;amp; Pathophysiology, maybe? While you do talk about the technical difficulties just before the Cleft Soft Palate Detection part, but considering you start a new subsection, it's confusing to keep talking as if it was the same paragraph. Maybe say &amp;quot;the technical difficulties mentionned above&amp;quot; instead? An explanation in the glossary of what a cleft soft palate actually is, is definately needed! The Cleft Hard Palate section is very well done.&lt;br /&gt;
*'''Syndromes and Anomalies associated with cleft''': Looks fine.&lt;br /&gt;
*'''Development''': Under construction? or is there meant to be no text, and you're simply splitting this section into the two subsections? If yes, you might want to make that clearer.&lt;br /&gt;
*'''Aetiology''': This part is slightly technical and could do with some more detailed explanations. It doesn't feel like a coherent section.&lt;br /&gt;
*'''Developmental Staging''': Well explained.&lt;br /&gt;
*'''Types of Cleft Palate/Lip''': Looks fine. Though the &amp;quot;algorhythm for repair...&amp;quot; figure seems to be in a slightly random place..? How does it relate to this section (or the next)?&lt;br /&gt;
*'''Pathophysiology''': The cranio-facial development pathway is a very complex process. Since the several points of development at which “Clefting” might occur is based on the condition and the wide range of its phonotypical expression. Make this one sentence? You start talking about neural crest cells quite out of the blue. Has there been any mention of them before? It's quite confusing to have them added into the story without having previously told why. The first two paragraphs under the table lack references? This part repeats what has been partly said before, but adds more physiological detail to it. I'd find it more logical to combine the different aspects to give one, more complete picture.&lt;br /&gt;
*'''Genetic configuration''': Very poor language/sentence structure. Where are the references? Putting womb and external environment together does make sense, but you might want to explain in a sentence why.&lt;br /&gt;
*'''Neuroembryology and functional anatomy of craniofacial clefts''': Excellent explanation, though some terms should be explained in the glossary. Why are some words in bold? Again, this sort of repeats previous information, again with more detail from a different point of view, apparently unrelated to what's been told before, as this section doesn't follow the previous sections?&lt;br /&gt;
*'''Treatment''': Can you explain the different techniques a little bit more, instead of just having bullet points? The figures are really nice, but don't illustrate all of the techniques mentioned.&lt;br /&gt;
*'''Problems associated with Cleft Palate''': Mere list with bullet points isn't enough, more explanations needed.&lt;br /&gt;
*'''Current and Future Research''': Very poor. There must be more than 3 articles?&lt;br /&gt;
*'''Glossary''': Poor. Many more terms need explanations.&lt;br /&gt;
*'''References''': Need fixing. The same article appears lots of times in the list. Watch out with your german references... the fact that you misspell the german makes me wonder whether you could have actually read the papers? In case you're citing a reference cited within the reference you've read, there usually is a special way of doing it.&lt;br /&gt;
*General: Your sections are really random and don't follow logically from one another. There is a lot of repetition of similar content in multiple different places, which is confusing. It is hard to keep an overview. Nevertheless, some of the sections are well done.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Group 11 Assessment'''&lt;br /&gt;
*The introduction and history sections are not very long… Maybe try adding more information and some pictures.  &lt;br /&gt;
*The timeline should be a subheading under the history portion.  Also, rather than doing a bulleted list, how about trying to format the information into a chart?  This would be more aesthetically appealing.  &lt;br /&gt;
*For the diagnosis section, the charts look great.  Referencing is completed well also.  Only thing I’d suggest is to possibly add a picture. &lt;br /&gt;
*For the references given throughout the wiki, there isn’t any consistency in how the [#] is given.  The [#] is sometimes right after the sentence, sometimes a space is given between the sentence and citation number, and the end of the sentence (period or comma) is sometimes before or after the reference #...&lt;br /&gt;
*There are several sentences throughout the wiki page which are missing punctuation at the ends of the sentences.  &lt;br /&gt;
*The first portion of Aetiology doesn’t have any referencing…&lt;br /&gt;
*“Normal Palate Shelf…” jpg needs a sentence below it briefly describing it still. &lt;br /&gt;
*The Genetic Configuration section has absolutely no referencing.  Neither does the Treatment section or Problems section.  Where did all this information come from? &lt;br /&gt;
*Treatment and Problems would also flow better if they were placed into a chart format.  Pictures could also be added.  &lt;br /&gt;
*The Glossary seems a bit short.  Are you sure there are no other words that would be helpful if they were defined?  It would also flow better if it were bullet listed.&lt;br /&gt;
*Some of the references are repetitive.  Make sure to fix this so they all link to a single reference instead of numerous ones of the same resource.  &lt;br /&gt;
*A lot of the information is repetitive as well, and things should be formatted to flow better.  Also work on the referencing issues and making the overall page more aesthetically appealing.  &lt;br /&gt;
--[[User:Z3391078|Z3391078]] 17:26, 27 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Peer Assessment: Group Project 11'''&lt;br /&gt;
*The introduction could definitely be expanded upon. Maybe include a short description of what cleft palate is.&lt;br /&gt;
*The timeline is great - clear and informative.&lt;br /&gt;
*The treatment, problems with cleft palate  and genetic configuration sections are good. It might be good to move the picture in the treatment section to the right so it doesn't disturb the flow of the text. Also these sections need to have referencing added, for reliability purposes and such as if the reader wanted to know more about the findings that 'a number of drugs might be participating in creating this birth defect'.&lt;br /&gt;
*Syndromes and Anomalies associated with cleft section is great and as noted there needs to be some additional text added.&lt;br /&gt;
*The current and future research section could be expanded. Maybe find relevant articles, summarise their findings and see what direction is necessary to head in.&lt;br /&gt;
*In the glossary writing &amp;quot;C&amp;quot; above the group of C words and so on and so forth for the rest of it, would make it easier for the reader to quickly find the desired word.&lt;br /&gt;
*Under the information on all the images you have uploaded, you need to add &amp;lt;nowiki&amp;gt;{{Template:2011 Student Image}}&amp;lt;/nowiki&amp;gt;.&lt;br /&gt;
*Some of the references are duplicated. They can instead be linked together using the 'multiple instances on a page' editing guidelines: http://embryology.med.unsw.edu.au/embryology/index.php?title=References#Multiple_Instances_on_Page.&lt;br /&gt;
*Overall the project has a large amount of information and is put together reasonably well.&lt;br /&gt;
--[[User:Z3217345|z3217345]] 11:09, 28 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
'''Peer Review'''&lt;br /&gt;
&lt;br /&gt;
* interesting pictures&lt;br /&gt;
* overall done well&lt;br /&gt;
--[[User:Z3060621|z3060621]] 22:02, 28 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Peer Review'''&lt;br /&gt;
&lt;br /&gt;
*Introduction is way too brief and no referencing what-so-ever&lt;br /&gt;
*Maybe combine the history and together.&lt;br /&gt;
*Types of Cleft Palate/Lip was quite an interesting section. Although some of the images were abit too much.&lt;br /&gt;
*Double referencing!&lt;br /&gt;
*for treatment the layout could have been better&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3330313|z3330313]] 00:42, 29 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
==Discussion==&lt;br /&gt;
&lt;br /&gt;
hey guys- keep abreast of the reviews coming in. some of them have valid points. it would be prudent to keep working on our relevant sections (without uploading it and altering the content of the wiki of course). hope you're all having a good weekend. i should be uploading the timeline later today. --[[User:Z3272325|Rahul Mohan]] 17:55, 25 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
uploaded another heading 'associated anomalies' --[[User:Z3308968|Tahmina Lata]] 10:58, 22 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
{|border=&amp;quot;1px&amp;quot; cellspacing=&amp;quot;1&amp;quot; align=&amp;quot;center&amp;quot; cellpadding=&amp;quot;3&amp;quot; &lt;br /&gt;
&lt;br /&gt;
! Type !! Comment !! Picture!&lt;br /&gt;
|-&lt;br /&gt;
|'''Unilateral Cleft Lip'''&lt;br /&gt;
|This type of cleft refers to cleft of the lip that have only occurred on one side of the lip.&lt;br /&gt;
|[[File:.jpg|centre]]&lt;br /&gt;
|-&lt;br /&gt;
|'''Unilateral Cleft Palate'''&lt;br /&gt;
|This type of cleft refers to a cleft of the soft palate that occurs on one side of the palate. The cleft starts medially and extends laterally.&lt;br /&gt;
|[[File:.jpg|centre]]&lt;br /&gt;
|-&lt;br /&gt;
|'''Unilateral cleft lip with a cleft hard palate ''' &lt;br /&gt;
|This refers to a cleft that has extended through the lip and into the hard palate. This cleft is on only one side of the lip and palate.&lt;br /&gt;
|[[File:.jpg|200px|centre]]&lt;br /&gt;
|-&lt;br /&gt;
|'''Unilateral cleft lip with cleft hard and soft palate'''&lt;br /&gt;
|This type of cleft refers to a cleft that extends through the lip, hard palate and into the soft palate. It also occurs on only one side.&lt;br /&gt;
|[[File:.jpg|centre]]&lt;br /&gt;
|-&lt;br /&gt;
|'''Bilateral cleft palate '''&lt;br /&gt;
|This refers to a cleft of the soft palate which occurs on both sides of the palate and appears as a opening medially.&lt;br /&gt;
|[[File:.jpg|300px|centre]]&lt;br /&gt;
|-&lt;br /&gt;
|'''Bilateral cleft lip'''&lt;br /&gt;
|This refers to a cleft of the lip that has occurred on both sides of the lip. There are many variations of this.&lt;br /&gt;
|[[File:.jpg|300px|centre]]&lt;br /&gt;
|-&lt;br /&gt;
|'''Bilateral cleft lip with cleft hard palate'''&lt;br /&gt;
|This refers to a cleft of the lip and hard palate that occurs on both sides.&lt;br /&gt;
|[[File:.jpg|300px|centre]]&lt;br /&gt;
|-&lt;br /&gt;
|'''Bilateral cleft lip with cleft hard and soft palate'''&lt;br /&gt;
|This refers to a cleft that has occurred on both sides of the lip and extended into both the hard and soft palates resulting in an medial opening of the soft palate.&lt;br /&gt;
|[[File:.jpg|300px|centre]]&lt;br /&gt;
|-&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
hey guys heres the table so far. I'm having a bit of trouble uploading the photos and finding sources for the info in the middle but I'm working on it&lt;br /&gt;
--[[User:Z3292953|Elizabeth Wren]] 10:36, 22 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
Hey guys, just letting you know whats on the page under aetiology and treatment has not been finalised. I will need to upload images and tables. --[[User:Z3308965|Fleur McGregor]] 09:55, 22 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Team, Found some amazing radiology images but they are under copyright. Would like to brainstorm with you all to se how we can request access. http://radiology.rsna.org/content/217/1/236.long&lt;br /&gt;
--[[User:Z3308968|Tahmina Lata]] 00:15, 22 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
Hey Rahul, I am still working on the resolution of the image, I am considering rediesigining the orginial design and increasing the font size. Will update on it soon.&lt;br /&gt;
I also have uploaded another brief subsection 'Problems associated with Cleft Palate'-hope it is useful.&lt;br /&gt;
--[[User:Z3308968|Tahmina Lata]] 23:56, 21 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
Hey Guys, &lt;br /&gt;
&lt;br /&gt;
I have just uploaded the Draft section Genetic Configuration... It is under review since I'm doing this with Rahul. the final version will  be integrated later on. --[[User:Z3284061|z3284061]] 21:37, 21 September 2011 (EST) &lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Hey Rahul, &lt;br /&gt;
&lt;br /&gt;
I think we should go with the Articles we have, because this is our project, yes we can have a look at the other textbooks. But in the end, remember, this is designed by us as a group! &lt;br /&gt;
and the mdconsult website does not work! --[[User:Z3284061|z3284061]] 20:53, 21 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
Hey Meedo, pursuant to our conversation- here are the 2 links that seem to conflict. &amp;lt;br&amp;gt;&lt;br /&gt;
http://embryology.med.unsw.edu.au/Notes/face2.htm&amp;lt;br&amp;gt;&lt;br /&gt;
http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4160-3706-4..50012-8&amp;amp;isbn=978-1-4160-3706-4&amp;amp;uniqId=282776049-2#4-u1.0-B978-1-4160-3706-4..50012-8&amp;lt;br&amp;gt;&lt;br /&gt;
&lt;br /&gt;
and I've spotted an error in reference 40 and 41. The chapter referred to is chapter 9, not 10. The necessary changes have been made. Timeline should be up soon.  &lt;br /&gt;
&lt;br /&gt;
--[[User:Z3272325|Rahul Mohan]] 17:53, 21 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Hey Rahul, I got that info from the text book but I'd probably go by what Dr Hill has.&lt;br /&gt;
Beth --[[User:Z3292953|z3292953]] 12:20, 21 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
guys- i have a problem. in development so far- i'm trying to work on the time line for cleft lip/palate development. it so turns out that there's conflicting information everywhere. on one hand- we have (google turned this up for me) &amp;lt;http://embryology.med.unsw.edu.au/Notes/face2.htm&amp;gt; which is by Dr Hill- in which its stated that &amp;quot;Cleft lip and palate develop between the 4th and 8th week of gestation&amp;quot;. On the other hand- we have what's already written up for the section under dev- which has it stated that cleft lip happens from/between carnegie stage 16 and 18- and cleft palate erin week 6 to 10 (which equates roughly to carnegie stage 15 onwards. if we follow what Dr HIll's said- that would amount to stages 10-around 21. so which do we follow?&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3272325|Rahul Mohan]] 23:45, 20 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
Hey Tahmina- the resolution could be slightly better. have you tried saving the document as a pdf file? with maximum resolution or something? I'm not entirely certain- but i'm fairly sure it can be done. mm. on another note, guys- here're a few resources that you could check out for your relevant sections if you haven't already:&lt;br /&gt;
&lt;br /&gt;
http://www.organizedwisdom.com/Cleft_Palate (scroll down to the journals section)&lt;br /&gt;
http://www.jci.org/articles/view/22154/version/1 (particularly helpful for genetic---Meedo)&lt;br /&gt;
http://dev.biologists.org/content/103/Supplement/41.full.pdf (helpful for development- what i'm working on right now. the last bit on genes might be useful to meedo as well.)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3272325|Rahul Mohan]] 23:00, 20 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
[[File:Figure Shows How the CNS is divided to supply different structures.jpg|800px|right|thumb|Figure Shows How the CNS is divided to supply different structures]]&lt;br /&gt;
Guys I am parking this image here for the time being as the resolution has not come out that well and I would like some feedback from you to see if we should add this to the page.&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3308968|Tahmina Lata]] 20:33, 20 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
Ravichandra KS, Vijayaprasad KE, Vasa AA, Suzan S.&lt;br /&gt;
&lt;br /&gt;
J Indian Soc Pedod Prev Dent. 2010 Oct-Dec;28(4):311-4.&lt;br /&gt;
&lt;br /&gt;
PMID: 21273723 [PubMed - indexed for MEDLINE]&lt;br /&gt;
&lt;br /&gt;
http://www.ncbi.nlm.nih.gov/pubmed/15479962&lt;br /&gt;
--[[User:Z3308965|Fleur McGregor]] 12:15, 15 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Permission to post figure:&lt;br /&gt;
https://s100.copyright.com/CustomerAdmin/PLF.jsp?lID=2011090_1316046741757&lt;br /&gt;
picture: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3086810/bin/nihms284150f2.jpg&lt;br /&gt;
&lt;br /&gt;
I have also included a hand drawn hierarchical table as I could not format such table in wiki. hope it is not looking too poorly done. --[[User:Z3308968|Tahmina Lata]] 23:30, 14 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
Hi Everyone,&lt;br /&gt;
&lt;br /&gt;
I have tried to stretch as much as possible and uploaded my final versions of my headings. --[[User:Z3308968|Tahmina Lata]] 23:28, 14 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Hello People, &lt;br /&gt;
&lt;br /&gt;
I have uploaded my section which is just a DRAFT. References are not all completed, and my photos are to be uploaded soon with drawings. &lt;br /&gt;
--[[User:Z3284061|Maqdad Al Saif]] 20:35, 14 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
Guys, &lt;br /&gt;
&lt;br /&gt;
As we have 5 people in our group we must have more content than other groups so I am adding a third heading 'Neuroembryology and functional anatomy of craniofacial cleft.' We really need to work hard on this as the page so far is not looking the best. I hope that someone will come up with an impressive table.&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3308968|Tahmina Lata]] 23:03, 8 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
Hi Guys,&lt;br /&gt;
&lt;br /&gt;
I will be writing about 'Diagnosis of prenatal cleft lip and palate' for my second heading. --[[User:Z3308968|Tahmina Lata]] 22:44, 6 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
Here are some more useful links with photos in them.&lt;br /&gt;
&lt;br /&gt;
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2562450/?tool=pubmed&lt;br /&gt;
&lt;br /&gt;
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC420504/&lt;br /&gt;
&lt;br /&gt;
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2825074/?tool=pubmed&lt;br /&gt;
&lt;br /&gt;
http://www.ncbi.nlm.nih.gov/pubmed/19884685&lt;br /&gt;
&lt;br /&gt;
http://www.ncbi.nlm.nih.gov/pubmed/20694165&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3308968|Tahmina Lata]] 22:46, 6 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
Hello Everyone,&lt;br /&gt;
&lt;br /&gt;
I have uploaded the timeline here and under the heading- 'History' I am just going to include some interesting historical facts but after researching the other heading- 'Developmental Process' it seems to coincide with developmental staging and so it might not be a good idea to have that as a broad heading. Please let me know if you have any ideas on another heading or I will come up with a different heading and research that. Let me know what you think--[[User:Z3308968|Tahmina Lata]] 22:55, 5 September 2011 EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Hey Guys, &lt;br /&gt;
&lt;br /&gt;
Great Work finding the articles :)  I noticed in the second article of Tahmina, you can use the pictures to make the content more interesting. The same goes for Fleur, the last 2 articles have great information and pictures. &lt;br /&gt;
&lt;br /&gt;
let's try updating the page before the end of the weekend &lt;br /&gt;
&lt;br /&gt;
Cheers Guys... --[[User:Z3284061|Maqdad Al Saif]] 16:57, 5 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Here are the articles I am studying at this stage:&lt;br /&gt;
&lt;br /&gt;
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2825059/&lt;br /&gt;
&lt;br /&gt;
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2825068/?tool=pubmed&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3308968|Tahmina Lata]] 21:18, 4 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
hey guys, &lt;br /&gt;
&lt;br /&gt;
I've found some pictures which we can either use in the gallery or on the front page. &lt;br /&gt;
&lt;br /&gt;
about my work, it will be all updated during the break but I will share with you what I'm doing. Meedo&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3284061|z3284061]] 11:29, 1 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
I also found these useful&lt;br /&gt;
&lt;br /&gt;
http://www.cincinnatichildrens.org/assets/0/78/1067/1395/1883/1a654a12-a1b6-42cb-8a6b-9b270e322f4c.pdf&lt;br /&gt;
&lt;br /&gt;
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2312243/pdf/annrcse00255-0003.pdf&lt;br /&gt;
&lt;br /&gt;
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2825076/&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3308965|Fleur McGregor]] 10:41, 1 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
Hey guys here some references I found that were kinda useful&lt;br /&gt;
&lt;br /&gt;
Plast Reconstr Surg. 2011 Feb;127(2):812-21.The spectrum of median craniofacial dysplasia.Allam KA, Wan DC, Kawamoto HK, Bradley JP, Sedano HO, Saied S. PMID: 21285785 &lt;br /&gt;
&lt;br /&gt;
Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2011 Aug;112(2):249-57. Epub 2011 Jun 12.Comparison between multislice and cone-beam computerized tomography in the volumetric assessment of cleft palate.Albuquerque MA, Gaia BF, Cavalcanti MG. PMID: 21664153&lt;br /&gt;
&lt;br /&gt;
Nat Rev Genet. 2011 Mar;12(3):167-78.Cleft lip and palate: understanding genetic and environmental influences.Dixon MJ, Marazita ML, Beaty TH, Murray JC. PMID:21331089&lt;br /&gt;
&lt;br /&gt;
I also found the Larsons textbook had some stuff on cleft palate and lip.&lt;br /&gt;
&lt;br /&gt;
Beth --[[User:Z3292953|z3292953]] 10:20, 1 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
Hey fellas, I reckon we could have inserted a brief discussion of the etymology of the word in the introduction. I don't reckon its big enough to warrant a heading of its own. Thus, I've gone ahead and taken the liberty to remove that heading from the page. Also included an &amp;quot;aetiology&amp;quot; section under development of disease- since its looking at causation of disease. Changed current research into Current and Future Research- to increase the scope of that heading. &lt;br /&gt;
&lt;br /&gt;
--[[User:Z3272325|Rahul Mohan]] 12:48, 25 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
I am doing history and developmental process.&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3308968|Tahmina Lata]] 10:06, 25 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
Hey Guys, &lt;br /&gt;
&lt;br /&gt;
There has been some changes in our page in terms of Subheading order. &lt;br /&gt;
&lt;br /&gt;
Hey Rahul, I'd be happy to share the Genetic Configuration with you... and your comments have been taken into consideration. &lt;br /&gt;
&lt;br /&gt;
--[[User:Z3284061|z3284061]] 11:43, 25 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
Thankyou z3284061 for the heads up on what to do.&lt;br /&gt;
&lt;br /&gt;
I've put myself down as finding current research and associated figures. However- pertaining to the latter- this would involve finding figures and diagrams relevant to our research I suppose? I'm definitely not good at art- and as for the diagrams and pics- that would be dependent more on the content we come up with. Also, as a sub-section- isn't it weird to lump all animations and figures under one subsection- isolating it away from the rest of the topic? Thus being the case, I propose that we individually keep a look out for relevant animations under our own sub-heading and I would help out anyone doing a large topic. z3284061 has indicated that that genetic configuration is a large sub heading- so I'll be happy to help with that. &lt;br /&gt;
&lt;br /&gt;
See you in a couple of hours, fellas. &lt;br /&gt;
&lt;br /&gt;
--[[User:Z3272325|z3272325]] 04:18, 25 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
Hey Guys, &lt;br /&gt;
&lt;br /&gt;
I think after we discussed last time, I'll be doing Pathophysiology and Genetic Configuration.Hmm, I just think it will be kinda big especially for Genetic Configuration :) if you guys find anything related to it, pleaase don't hesitate to post it in the discussion. &lt;br /&gt;
&lt;br /&gt;
The only one who might not have been allocated to do something specific is  z3272325- I think you are meant to do The Animations and figures + Current Associated research :) &lt;br /&gt;
&lt;br /&gt;
Let's Start updating the page whenever we have information :) &lt;br /&gt;
&lt;br /&gt;
Cheers --[[User:Z3284061|z3284061]] 23:11, 24 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
For the groupo project I will be researching Developmental Staging and Abnormaility Classification.&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3292953|z3292953]] 11:21, 24 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
I am researching the following sub headings: surgical timeline and etimiology. If you all post what you are researching we can forward any information we find regarding your sub heading. --[[User:Z3308965|Fleur McGregor]] 12:16, 23 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
Here's the image I've found. --[[User:Z3284061|Maqdad Al Saif]] 13:10, 18 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
[[File:Cleft lip.jpg]]&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
completely forgot I was meant to add a picture here as well. My apologies. And the group discussion's picking up- shall be more productive henceforth. here's a pic for cleft palate. &lt;br /&gt;
&lt;br /&gt;
[[Image:In vitro fetal palate explant culture.jpg|frame|alt=Alt|In vitro fetal palate explant culture&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2841638&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;|center]]&lt;br /&gt;
&lt;br /&gt;
'''References'''&lt;br /&gt;
&amp;lt;references/&amp;gt;&lt;br /&gt;
Wow!! That is sad Meedo! I didnt know you were in hospital!&lt;br /&gt;
Yes I think the condition is cleft lip and palate however I am working on the classifications of cleft lip as they can be disjoint at many different sites of the lip.&lt;br /&gt;
--[[User:Z3308968|Tahmina Lata]] 10:11, 18 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
Fantasitc Work Tahmina!!!! I can See a flow coming up!!! &lt;br /&gt;
and z3292953 - Great Photos!!!! Please save the references somewhere Safe :D &lt;br /&gt;
&lt;br /&gt;
As for me, I haven't been able to attend classes since Thursday. I was at the hospital, extremely dysfunctional.&lt;br /&gt;
&lt;br /&gt;
Anyways, I can say that we should finilize the topic to This one... I prefer not to change because it's week 5 now. It will be wise if we dig deeper in the topic and we shall get better information. I will start my search from tomorrow and sorry for the delay. I HAVE ONLY ONE QUESTION IS  CLEFT PALATE and LIP KNOWN as the WHOLE condition???&lt;br /&gt;
--[[User:Z3284061|z3284061]] 23:46, 17 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
History&lt;br /&gt;
&lt;br /&gt;
The earliest known history of cleft lip is based on a combination of religion, superstition, invention and charlatanism. While Greeks were indifferent of their existence, Spartans and Romans would kill the children with this condition as they were considered to harbour evil spirits.&lt;br /&gt;
&lt;br /&gt;
Between (1295- 1351) the first to note the congenital origin of the cleft was made by Jean Yperman. He also classified the various forms of the condition and laid down the principles for their treatment.&lt;br /&gt;
&lt;br /&gt;
Between (1537-1619) Fabricius ab Aquapendente first suggested the embryological basis of cleft lip.&lt;br /&gt;
&lt;br /&gt;
This is how I started the history, please comment if you think anything needs changing. I will continue the list on and the references at the end.&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3308968|Tahmina Lata]] 20:00, 16 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
[[File:File-Cleft palate in newborn mice.jpg]] &lt;br /&gt;
&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;2924885&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3292953|z3292953]] 12:08, 16 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
Hi Guys, I have started working on pathophysiology &amp;amp; history and modified some of the headings to include ones that were more relevant for Cleft palate and Lip.&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3308968|Tahmina Lata]] 21:51, 15 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
[[File:Mice mutants exhibit cleft palate and umbilical hernia.jpg|frame|alt=Alt|Mice mutants exhibit cleft palate and umbilical hernia&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;PMC2841638&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;|center]]&lt;br /&gt;
&lt;br /&gt;
Mice mutants exhibit cleft palate and umbilical hernia&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3308968|Tahmina Lata]] 19:16, 15 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
So after careful consideration we have come to realise that Cleft Palate/Lip will be a more relevant topic to create a page about.&lt;br /&gt;
Some of you guys left last week when we registered this topic with Dr Hill. Please post here if you are still unsure of the topic. At this stage we are all reseraching different things on the topic so we can discuss about it this week.&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3308968|Tahmina Lata]] 16:44, 15 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
There appears to be no group discussion here on possible project topics?? --[[User:S8600021|Mark Hill]] 23:55, 7 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
We have decided to research each subheading listed on the Group Project page and then share all the information found next week. We will then be able to determine a clearer structure to the page based on what literature is available.&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3308968|Tahmina Lata]] 12:34, 11 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
'''Review Article'''&lt;br /&gt;
&amp;quot;Cystic fibrosis: pathogenesis and future treatment strategies&amp;quot;-This review summarizes our current understanding of the pathophysiology and treatment of cystic fibrosis lung disease&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;19393104&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
'''Research Article'''&lt;br /&gt;
&amp;quot;Nasal endoscopic evaluation of children and adolescents with cystic fibrosis&amp;quot;-The questionnaire, clinical examination and especially nasal endoscopy performed as part of this research lead to a detailed assessment of the nasal characteristics of children and adolescents with cystic fibrosis. &amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;20209279&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
--[[User:Z3308968|Tahmina Lata]] 23:13, 10 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
Hi Guys, &lt;br /&gt;
&lt;br /&gt;
I've modified the page with the required subheadings, we can change them later but it's important to get our heads around the foundations. &lt;br /&gt;
&lt;br /&gt;
If have have anything to add, please do so. if you have any questions, post it here and we will try and help. --[[User:Z3284061|z3284061]] 22:52, 10 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Novel concepts in evaluating antimicrobial therapy for bacterial lung infections in patients with cystic fibrosis.Rogers GB, Hoffman LR, Döring G. J Cyst Fibros.2011 Jul 18. [Epub ahead of print]&lt;br /&gt;
&lt;br /&gt;
Vitamin D receptor agonists inhibit pro-inflammatory cytokine production from the respiratory epithelium in cystic fibrosis.McNally P, Coughlan C, Bergsson G, Doyle M, Taggart C, Adorini L, Uskokovic MR, El-Nazir B, Murphy P, Greally P, Greene CM, McElvaney NG.J Cyst Fibros. 2011 Jul 22. &lt;br /&gt;
&lt;br /&gt;
--[[User:Z3292953|z3292953]] 15:59, 9 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Hey Guys: &lt;br /&gt;
&lt;br /&gt;
How are we going in the research process? Well, In case anyone wants to change the topic Tomorrow will be the last day we get to change! That’s if everyone agrees to do so. &lt;br /&gt;
&lt;br /&gt;
For the time being, we are working on Cystic Fibrosis. I’ve found some interesting articles regarding the treatment. &lt;br /&gt;
The first one is a research while the other 2 are both Reviews. &lt;br /&gt;
&lt;br /&gt;
I’ve Moved the articles of z3292953 to the discussion Page :) &lt;br /&gt;
&lt;br /&gt;
Looking forward to create a great wiki page. --[[User:Z3284061|z3284061]] 22:34, 10 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
1. ''Effect of VX-770 in Persons with Cystic Fibrosis and the G551D-CFTR Mutation ''&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
[http://www.nejm.org/doi/pdf/10.1056/NEJMoa0909825  Effect of VX-770 in Persons with Cystic Fibrosis and the G551D-CFTR Mutation]&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
2. ''Recent advances in the treatment of Pseudomonas aeruginosa infections in cystic fibrosis'' &lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Abstract'''&lt;br /&gt;
&lt;br /&gt;
Chronic Pseudomonas aeruginosa lung infection in cystic fibrosis (CF) patients is caused by biofilm-growing mucoid strains. Biofilms can be prevented by early aggressive antibiotic prophylaxis or therapy, and they can be treated by chronic suppressive therapy. New results from one small trial suggest that addition of oral ciprofloxacin to inhaled tobramycin may reduce lung inflammation. Clinical trials with new formulations of old antibiotics for inhalation therapy (aztreonam lysine) against chronic P. aeruginosa infection improved patient-reported outcome, lung function, time to acute exacerbations and sputum density of P. aeruginosa. Other drugs such as quinolones are currently under investigation for inhalation therapy. A trial of the use of anti-Pseudomonas antibiotics for long-term prophylaxis showed no effect in patients who were not already infected. Use of azithromycin to treat CF patients without P. aeruginosa infection did not improve lung function. Here I review the recent advances in the treatment of P. aeruginosa lung infections with a focus on inhalation treatments targeted at prophylaxis and chronic suppressive therapy.&lt;br /&gt;
&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21463524&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
3. ''Changes in strategies for optimal antibacterial therapy in cystic fibrosis.''&lt;br /&gt;
&lt;br /&gt;
'''Abstract''' &lt;br /&gt;
&lt;br /&gt;
Aggressive antibiotic therapy of bacterial airway infection is one of the main reasons for the dramatic increase in life expectancy over the last few decades. Staphylococcus aureus and Haemophilus influenzae are the predominant pathogens in younger patients, but the choice of antibiotic therapy against these pathogens remains highly controversial. There is general agreement that patients with pulmonary exacerbations should be treated and many cystic fibrosis (CF) centres will also try to eradicate bacteria in the absence of symptoms. Prophylactic antibiotic therapy, with anti-staphylococcal medications started at the time of diagnosis, is advocated by some groups but its positive effect remains unproven. In fact, recent studies have suggested that continuous prophylactic treatment with anti-staphylococcal antibiotics may increase the risk of early colonisation with Pseudomonas aeruginosa. P. aeruginosa is the main pathogen in older children with CF. While chronic airway infection with mucoid P. aeruginosa is considered irreversible, both the combination of oral ciprofloxacin with inhaled colistin and inhaled tobramycin alone has been used successfully in the early phase of colonisation. In patients chronically infected with P. aeruginosa, standard treatment of pulmonary exacerbations consists of intravenous combination therapy for 2-3 weeks. Controversy exists whether this treatment should be performed routinely every 3 months or only in the presence of a pulmonary exacerbation. Inhaled antibiotics such as tobramycin have been shown to improve lung function and reduce sputum density of P. aeruginosa, but both the optimal dose and the duration of therapy are unclear at the present time&lt;br /&gt;
&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;11165111&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt; &lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Review: &lt;br /&gt;
Inhaled bronchodilators for cystic fibrosis. Halfhide C, Evans HJ, Couriel J. Cochrane Database of Systematic Reviews 2005, Issue 4. Art. No.: CD003428. DOI: 10.1002/14651858.CD003428.pub2 from http://www2.cochrane.org/reviews/en/ab003428.html&lt;br /&gt;
&lt;br /&gt;
Research Article:&lt;br /&gt;
Identification of airborne dissemination of epidemic multiresistant strains of Pseudomonas aeruginosa at a CF centre during a cross infection outbreak. Jones AM, Govan JR, Doherty CJ, Dodd ME. Isalska BJ, Stanbridge TN, Webb AK. Thorax 58(6), 525-527. &lt;br /&gt;
from http://www.ncbi.nlm.nih.gov/pubmed/12775867&lt;br /&gt;
--[[User:Z3272325|Rahul Mohan]] 10:58, 11 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
==References==&lt;br /&gt;
&amp;lt;references/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
==Peer Assessments==&lt;br /&gt;
* I would suggest expanding on the current and future research section, maybe add in links to current research institutes or research papers.&lt;br /&gt;
* Perhaps add an image in for problems associated with cleft palate, just to add some dynamics and colour to the page. &lt;br /&gt;
* Perhaps tabulate the treatment section just so that the information is clearer &lt;br /&gt;
* Placing words in bold, although it was just a little touch, helped to highlight the main points you were trying to get across which was good.&lt;br /&gt;
* Good incorporation of tables and different formatting styles&lt;br /&gt;
* Your introduction was clear, simple and straight to the point. &lt;br /&gt;
* You’re referencing needs to be tidied up; there are multiple entries from the same source that tends to clutter your reference section.&lt;br /&gt;
* Your timeline was extremely spaced out, I would suggest deleting the space between your dot points just so that it reads easier.&lt;br /&gt;
--[[User:Z3332629|z3332629]] 15:31, 22 September 2011 (EST)&lt;/div&gt;</summary>
		<author><name>Z3217043</name></author>
	</entry>
	<entry>
		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=Talk:2011_Group_Project_10&amp;diff=73050</id>
		<title>Talk:2011 Group Project 10</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=Talk:2011_Group_Project_10&amp;diff=73050"/>
		<updated>2011-09-29T00:02:51Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: &lt;/p&gt;
&lt;hr /&gt;
&lt;div&gt;[[2011_Group_Project_10|'''Group 10''']]: [[User:z3332327]] | [[User:z3332629]] | [[User:z3332824]] | [[User:z3330313]]&lt;br /&gt;
&lt;br /&gt;
{{2011GroupDiscussionMH}}&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
==Peer Review==&lt;br /&gt;
&lt;br /&gt;
Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward.&lt;br /&gt;
&lt;br /&gt;
:*History section would benefit by placing the information into a timeline rather than paragraphs as it is a bit hard to follow.&lt;br /&gt;
&lt;br /&gt;
:*Epidemiology section could be expanded and written in more flowing way rather than long sentences.&lt;br /&gt;
&lt;br /&gt;
:*Needs more images, lots of large blocks of text. And images need to be formatted into the text as formatting currently looks awkward. &lt;br /&gt;
&lt;br /&gt;
:*Further Research could be added, for example papers or groups that are researching as currently it is just being referred to.&lt;br /&gt;
&lt;br /&gt;
:*Glossary could be expanded.&lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. Double ups need to be fixed. Also perhaps research from MORE sources is necessary as there is only a few when you cut out the double references. &lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 10:02, 29 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
Group 10 Peer Review&lt;br /&gt;
&lt;br /&gt;
*Headings are well organised and structured&lt;br /&gt;
*Too much text in history section-a table or image would be good&lt;br /&gt;
*Information is there however images/graphs/tables would help break up large chunks of text&lt;br /&gt;
*Diagnosis seems brief-perhaps merge with treatment section?&lt;br /&gt;
*Signs and symptoms could be expanded&lt;br /&gt;
*Great table in treatment&lt;br /&gt;
*Needs to be proof read-grammar and spelling mistakes&lt;br /&gt;
*Double referencing&lt;br /&gt;
*Glossary needs to be extended&lt;br /&gt;
--[[User:Z3308965|Fleur McGregor]] 09:54, 29 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Group 10&lt;br /&gt;
&lt;br /&gt;
*Introduction – Great intro, well referenced apart from the first paragraph. &lt;br /&gt;
*History has a lot of text, a timeline could work well here and also an image if possible just to break up the text.&lt;br /&gt;
*Epidemiology – well referenced and structured, text could be broken up but that’s nothing major as it’s a small section.&lt;br /&gt;
*Aetiology – A link between the image provided and the text would work well, and also the image could be formatted on the right of the page, to add to continuity and flow as other images are located on the right.&lt;br /&gt;
*Signs and Symptoms – Needs to be more information here, a description of each symptom and maybe its direct causes.&lt;br /&gt;
*Clinical manifestations – need a link between the image and the text, other than that it is well referenced and easy to understand.&lt;br /&gt;
*Treatment – table formatting is great and information is helpful&lt;br /&gt;
*Glossary – needs to include more terms form the page.&lt;br /&gt;
*There’s some doubling up in the reference section that needs to be fixed, other than that good job.&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3331469|z3331469]] 08:25, 29 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
peer review: &lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
*Intro: One of the very few groups to use an image of the disease in the intro, well done! Like how you have referred to Duchenne’s as DMD in brackets initial heading to avoid confusion. &lt;br /&gt;
&lt;br /&gt;
*History: A lot of writing, no techniques to break it up, which will basically bore your reader. Use a timeline perhaps.&lt;br /&gt;
&lt;br /&gt;
*Epidemiology: Subheading will benefit this segment.&lt;br /&gt;
&lt;br /&gt;
*Aetiology: The image could use some colour, but it is still very well done. It would be worthy to refer to the drawing as your explaining the genetics, just to bring them together.&lt;br /&gt;
&lt;br /&gt;
*Pathogenesis: Very brief, not very informative and lacking subheadings or an image. Hopefully this will be fixed.&lt;br /&gt;
&lt;br /&gt;
*Signs and Symptoms:Poorly done. Dot-points are a good way to initiate the writing but not appropriate as a final copy. Needs more description and research.&lt;br /&gt;
&lt;br /&gt;
*Clinical manifestations:&lt;br /&gt;
The image used is excellent but needs more explanation.&lt;br /&gt;
&lt;br /&gt;
*Diagnosis:Very short, looks incomplete and there’s only one reference for the entire section.&lt;br /&gt;
&lt;br /&gt;
*Treatment: Well done, I like the colour and the table structure, makes it much easier to understand.&lt;br /&gt;
&lt;br /&gt;
*Glossary: Incomplete, much more terminology has been used.&lt;br /&gt;
&lt;br /&gt;
*References: Double referencing is a big problem here. &lt;br /&gt;
&lt;br /&gt;
*Text:image ratio: could use more images.&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3290270|z3290270]] 02:16, 29 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
*history should be broken up with dates on side or within a table. &lt;br /&gt;
*how about a short summary table to use for epidemiology&lt;br /&gt;
*no picture of  Guillaume Benjamin Amand Duchenne?&lt;br /&gt;
*no copyright permission for the drawn image in genetics.&lt;br /&gt;
*pathogenesis seems very small for a section that is very important.&lt;br /&gt;
*describe how the signs and symptoms impact on patients to show the significance of the disease.&lt;br /&gt;
*diagnosis needs a lot of work, this section is very important. also very little references in this section.&lt;br /&gt;
*not enough pictures to accompany the text&lt;br /&gt;
*very short glossary&lt;br /&gt;
*multiple references of same articles&lt;br /&gt;
--[[User:Z3291423|Jasjit Walia]] 00:17, 29 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
'''Peer Review for Group 10'''&lt;br /&gt;
&lt;br /&gt;
*The introduction was well written, however the picture in it is not referenced as instructed. Please fix that then your intro is perfect.&lt;br /&gt;
*In the history section, the first sentence is oddly placed, even though it’s informative, please put that somewhere where it will flow in the paragraph.&lt;br /&gt;
*The history is verbose, please re write so it’s easier to follow.&lt;br /&gt;
*Epidemiology needs to be reevaluated as some sentences are not constructed properly&lt;br /&gt;
*Etiology has sound information but the paragraphs are not structured so it flows. It also seems repetitive.&lt;br /&gt;
*The picture in the etiology can have its caption better structured&lt;br /&gt;
*Pathogenesis should include some component of genetics to explain how the abnormalities bring about the pathogenesis in the genetics level.&lt;br /&gt;
*Explanation of how the signs and symptoms comes along from the dystrophy should be explained&lt;br /&gt;
*The image of the spine is not completely referenced as url of the image and the page must also be given&lt;br /&gt;
*Information under ‘respiratory problems’ and smooth muscle needs some reviewed as it includes words there that shouldn’t be present&lt;br /&gt;
*The diagnosis section could be expanded upon so it includes more information on the details of how it is detected, and images should complement the tools to diagnose the condition.&lt;br /&gt;
*An introduction to the table should be given. Having the table there by itself doesn’t look good.&lt;br /&gt;
*Further explanation should be made on the type of physical activity that would be made for therapy&lt;br /&gt;
*Glossary should be expanded&lt;br /&gt;
*There is repetitive referencing; it should be reformatted to fit in the way multiple references is made.&lt;br /&gt;
*You need much more pics as without the pics the page looks word heavy.&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3291317|Z3291317]] 23:57, 28 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
'''Group 10'''&lt;br /&gt;
&lt;br /&gt;
Introduction: Good introduction. The picture could be a bit bigger. Also, a picture of the chromosome would be great.&lt;br /&gt;
&lt;br /&gt;
History and epidemiology: Both sections are clear and flow well. Pictures are needed to break up the text though. &lt;br /&gt;
&lt;br /&gt;
Genetics: The image is great and the text is well written.&lt;br /&gt;
&lt;br /&gt;
Pathogenesis: The pathogenesis is well explained. Again, pictures would be good in this section to improve it.&lt;br /&gt;
&lt;br /&gt;
Clinical manifestations: Good section. Clear, easy to understand.&lt;br /&gt;
&lt;br /&gt;
Diagnosis: This section might need some more detail added. You could explain how each of the diagnostic tests work&lt;br /&gt;
&lt;br /&gt;
Current and future treatment: This section is worded well but looks a little bit disjointed. I think it would be better having it either all in text or all in the table. --[[User:Z3291324|z3291324]] 23:27, 28 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Group 10 Peer Review'''&lt;br /&gt;
* Interesting introduction, with a good amount of information. The history is also quite well outlined, although as you have no doubt seen with many of the other groups by now, a timeline woud be adequate in the history section (this also helps to break the text up and help us get a &amp;quot;break&amp;quot; from large blocks of text!)&lt;br /&gt;
* Epidemiology section is short but sweet - all the required information is there and summarised well. Perhaps mention the rate of mortality? (although this may be obvious)&lt;br /&gt;
* The student-drawn image in the aetiology section doesn't have your own copyright notice, so this should be added to the description. There also might be more to write in this section, but only if you wish to seek out the information. Diagrams can be helpful in summarising excessively detailed material.&lt;br /&gt;
* Pathogenesis simply needs to be longer; a lot can be written on this section and there should also be the use of diagrams throughout. Explain why the pathogenesis of DMD is so destructive; it has more than just the function of securing the sarcolemma to the cytoskeleton and is also present in other parts of the body, so make sure you explore this completely! :) (for example, dystrophin which is affected also is found in different areas of the body which may help explain some of the other symptoms of DMD).&lt;br /&gt;
* General signs and symptoms could have a diagram to assist in the signs and symptoms.&lt;br /&gt;
* Clinical manifestations and complications could have more written and explaining some of the other symptoms that aren't purely based upon the muscle damage observed in DMD.&lt;br /&gt;
* Diagnosis needs to have more written, especially images regarding the methods of imaging and therapy. &lt;br /&gt;
* Treatment; and Current and Future Prospects are different sections and shouldn't be integrated. Think carefully about the implications that current and future directions of research will have on this disease - they are huge! Try to write more and make an individual section on current and future prospectives of research for DMD; as you know from your research so far, DMD is a very important disease requiring a lot of research.&lt;br /&gt;
* Glossary is incomplete; References have a lot of repeats, but these are problems that are common to almost all projects.&lt;br /&gt;
* Generally, you just need to find better ways of altering the information in your project. Try to add tables and images to help break up the information and make sure you've discussed all the sections in the guidelines for the project properly. Keep at it! :) There are also some obvious typos ('''&amp;amp;&amp;amp;&amp;amp;''')?&lt;br /&gt;
--[[User:Z3288827|Leonard Tiong]] 22:29, 28 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
'''Group 10:'''&lt;br /&gt;
&lt;br /&gt;
•History might work better in a timeline, just to break up the text as the beginning of the page looks a little overwhelming with text.&lt;br /&gt;
&lt;br /&gt;
•Make sure that all of the student drawn images have the correct copyright information. You need to make sure you have the correct template for all of the uploaded images.&lt;br /&gt;
&lt;br /&gt;
•The different sections seem to be a little inconsistent, where a few of the sections such as diagnosis and treatment seem a little vague. These sections could be expanded on to give the reader a more comprehensive knowledge of what is involved, especially seeing as the diagnosis section only has one reference.&lt;br /&gt;
&lt;br /&gt;
•Some typos in the smooth muscle section - ‘&amp;amp;&amp;amp;&amp;amp;’&lt;br /&gt;
&lt;br /&gt;
•A lot of the references are repeated multiple times – this should be fixed up so that each reference only appears once. And also not all the references seem to be formatted correctly.&lt;br /&gt;
&lt;br /&gt;
•Glossary is incomplete&lt;br /&gt;
&lt;br /&gt;
•Overall, good use of subheadings though some of the sections need to be expanded and a few more images are needed to add a better balance to the page. Good work so far.&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3332183|z3332183]] 21:33, 28 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Group 10'''&lt;br /&gt;
&lt;br /&gt;
'''*The key points relating to the topic that your group allocated are clearly described.'''&lt;br /&gt;
All main points are there. Content is decent in some places and lacking in others. Fixing up problematic areas would be good.&lt;br /&gt;
&lt;br /&gt;
'''*The choice of content, headings and sub-headings, diagrams, tables, graphs show a good understanding of the topic area.&lt;br /&gt;
Maybe include a time-line in history?'''&lt;br /&gt;
General Signs and Symptoms of Duchenne’s Muscular Dystrophy section is very poor. Getting information from an insurance website is not actual research. please consider re-doing this section with sources cited from a peer-reviewed paper. Signs and symptoms should go with diagnosis as it is part of making a diagnosis. why are there ampersands in Smooth muscle section?&lt;br /&gt;
&lt;br /&gt;
'''*Content is correctly cited and referenced.'''&lt;br /&gt;
Fix up references, some are simply links and they repeat.&lt;br /&gt;
&lt;br /&gt;
'''*The wiki has an element of teaching at a peer level using the student's own innovative diagrams, tables or figures and/or using interesting examples or explanations.'''&lt;br /&gt;
Student image is drawn well, explanation could do with a bit more work though. File:Normal control muscle (a) vs. Duchennes muscular dystrophy muscle (b).jpg needs proper citation, also there isn't many images. Try including more images.&lt;br /&gt;
&lt;br /&gt;
'''*Evidence of significant research relating to basic and applied sciences that goes beyond the formal teaching activities.'''&lt;br /&gt;
Not as much information as i was expecting and references is not as extensive as other pages - but good in-text citation (with the exception of some places such as diagnosis and Respiratory problems), it shows that the information has come from somewhere. Information from an insurance website is not evidence of extensive research so try to fix it.&lt;br /&gt;
&lt;br /&gt;
'''*Relates the topic and content of the Wiki entry to learning aims of embryology.'''&lt;br /&gt;
No connection to embryology - try linking genetic defects to problems in the neonate, or even if there is a prenatal test.&lt;br /&gt;
&lt;br /&gt;
'''*Develops and edits the wiki entries in accordance with the above guidelines.'''&lt;br /&gt;
Some evidence of developing the wiki page with the guidelines. Will benefit from changing some things.&lt;br /&gt;
&lt;br /&gt;
--z3329495 21:28, 28 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
'''Group 10: Peer Assessment'''&lt;br /&gt;
* Your page is relatively short overall and could use some more pictures, especially in the first few sections.&lt;br /&gt;
* You have forgotten to put a title on you page&lt;br /&gt;
* The introduction is good&lt;br /&gt;
* You have got quite a bid of text in the history section, may be you can make a bid lighter with a time line?&lt;br /&gt;
* Epidemiology is nice to read and relevant&lt;br /&gt;
* Signs and symptoms belong into the clinical manifestation section&lt;br /&gt;
* Diagnostics could be more in detail&lt;br /&gt;
* The green and blue in the table is a bid too much colour all on a sudden. May be you can have some more colour overall or do the table in just one colour?&lt;br /&gt;
* It would be great to have more terms in the glossary&lt;br /&gt;
* I would put the diagnosis section right after pathogenesis&lt;br /&gt;
* Overall you have got good information on your page. May be you can work on the overall structure and some references. --z3279511 17:15, 28 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Group 10'''&lt;br /&gt;
&lt;br /&gt;
*Introduction: well done&lt;br /&gt;
&lt;br /&gt;
*History: lots of information, some parts have no references, subheadings and a time line would be advantageous&lt;br /&gt;
&lt;br /&gt;
*Epidemiology: good contend&lt;br /&gt;
&lt;br /&gt;
*Aetiology: the contend seems fine, but more structure would be good&lt;br /&gt;
&lt;br /&gt;
*Pathogenesis: looks good&lt;br /&gt;
&lt;br /&gt;
*Signs and symptoms: that’s more like a list that a section, maybe combine it with manifestations&lt;br /&gt;
&lt;br /&gt;
*Manifestations: well done, except for smooth muscle- seems incomplete?&lt;br /&gt;
&lt;br /&gt;
*Diagnosis: you could add more information and details&lt;br /&gt;
&lt;br /&gt;
*Treatment: the heading seems inappropriate, separate treatment and research, the contend could be more explained&lt;br /&gt;
&lt;br /&gt;
*Glossary: is incomplete&lt;br /&gt;
&lt;br /&gt;
*More images would be nice&lt;br /&gt;
--[[User:Z3387190|Z3387190]] 14:28, 28 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Group 10'''&lt;br /&gt;
&lt;br /&gt;
*Very poor image/text ratio – you need more images to break up the text&lt;br /&gt;
*Good intro&lt;br /&gt;
*History would work better in a timeline- you also mention nothing after the 1800s, more recent findings need to be included&lt;br /&gt;
*An image would be nice for pathogenesis to help the reader follow&lt;br /&gt;
*Not sure why you have made signs and symptoms a different heading to clinical manifestation- these could be combined&lt;br /&gt;
*Diagnosis is very brief and needs to be extended&lt;br /&gt;
*Glossary needs to be added to&lt;br /&gt;
*Maybe add a current research heading&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
===Comments on Group Project 10===&lt;br /&gt;
'''Strengths:'''&lt;br /&gt;
*The flow of the page is smooth with appropriate placement of the various headings.&lt;br /&gt;
*Clinical manifestation section looks really decent without appearing too verbose but yet sufficient information is given.&lt;br /&gt;
*The last image has correct referencing and the copyright statement is also included. &lt;br /&gt;
'''Weaknesses:'''&lt;br /&gt;
*Some of the references are not formatted properly. There are also a couple of duplications under References.&lt;br /&gt;
*Glossary is not complete.&lt;br /&gt;
*The formatting for the overall page is not as consistent as it can be.&lt;br /&gt;
'''Specific corrections:'''&lt;br /&gt;
*Maybe it would be better to have a heading for the genetic condition just on its own and not put it with the introduction heading.&lt;br /&gt;
* Maybe future treatments can come under a new heading “future research”?&lt;br /&gt;
*It will be good to elaborate more on current treatments.&lt;br /&gt;
*Diagnosis can be more detailed.&lt;br /&gt;
*Include a timeline under history to summarise that section.&lt;br /&gt;
*The copyright statement that allows wikiusers to use the student image after 6 months is not included.&lt;br /&gt;
&lt;br /&gt;
--Z3389806 07:04, 27 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Group 10 Peer assessment'''&lt;br /&gt;
*Heading order needs to re-arranged and done properly with diagnosis above before signs and symptoms.&lt;br /&gt;
*Introduction done sort of well needs to integrate image as an example of the myofibres.&lt;br /&gt;
*History rather bulky with too much text and no image, image of the founder would be fine. Also no time line present of DM needs to be added&lt;br /&gt;
*Epidemiology seems rather empty, images would benefit this section also more stats, further expansion of sub headings would also do well for this section&lt;br /&gt;
*Genetics aetiology needs to be expanded where seems to be cramped, though usage of image needs to be noted&lt;br /&gt;
*Pathogenesis needs images and further information&lt;br /&gt;
*Signs and symptoms needs to be expanded and image of some signs or tables&lt;br /&gt;
*Clinical manifestation done well with image and further sub-headings &lt;br /&gt;
*Diagnosis requires more attention with further methods of detection of DM&lt;br /&gt;
*Treatment is well done with the usage of the table&lt;br /&gt;
*Glossary needs to further expanded also linked to the pages so easy to follow the page&lt;br /&gt;
*References are not complete with links and repeats of the references&lt;br /&gt;
z3332250 23:59, 26 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Group 10  Critique'''&lt;br /&gt;
&lt;br /&gt;
#•	The introduction was very good. Good use of images to give it a little decoration!&lt;br /&gt;
#•	History is good&lt;br /&gt;
#•	Epidemiology is good, however if possible try and make it longer/ include more information&lt;br /&gt;
#•	The Genetics section is a bit too short. Add more information. Good hand drawn image!&lt;br /&gt;
#•	Pathogenesis is a little short. Needs more information&lt;br /&gt;
#•	Signs and Symptoms is good&lt;br /&gt;
#•	Clinical manifestations is ok&lt;br /&gt;
#•	Diagnosis, treatment and glossary are all well written. These sections should not require any change&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3289991|Robert Klein]] 16:27, 26 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
Group 10 ''Duchenne Muscular Dystrophy''&lt;br /&gt;
*The first paragraph of the introduction has no reference.&lt;br /&gt;
*The paragraphs in history are quite long, often with grammar mistakes, incorrect punctuations and many of the ideas within a  sentence separated by a ''-''. For example the second last paragraph within history.&lt;br /&gt;
*The history is too verbose, a timeline with bullet points will look better&lt;br /&gt;
*Aetiology is quite concise and informative however gramatical errors are a distraction. For example ''There a multiple forms of dystrophin''. It might be a good idea to proofread the page.&lt;br /&gt;
*Well done with the student drawn image&lt;br /&gt;
*'Pathogenesis' is again well written however an image might have given it a balance between the text in the section and the pictures or tables&lt;br /&gt;
*The future therapies table is a little confusing, you might want to add more columns and define the therapy, and then discuss what the challenges and findings are and at the end column finish off with what the implication might be if the research is to be completed successfully. At the moment you have discussed all that in one big paragraph and the way the descriptions start, it sounds like there is no background to the description, just a little abrupt. &lt;br /&gt;
*The glossary is very short and you should include terms like de novo mutation.&lt;br /&gt;
*The existing definitions are unclear and incomplete&lt;br /&gt;
&lt;br /&gt;
''Duchenne Muscular Dystrophy''&lt;br /&gt;
&lt;br /&gt;
*Make sure you add a proper heading for the page, so it doesn't just start with 'Introduction'&lt;br /&gt;
*The 'Introduction' is a good start to the page, very easy to read and understand&lt;br /&gt;
*'History' is a bit difficult to read, try to make is sequential order, or at least '''bold''' the dates&lt;br /&gt;
*In 'History' we don't really want a story, but key dates in the history of the discovery of the disorder.  Surely something has happened in the past 150 years?&lt;br /&gt;
*Good work with 'Pathogenesis', it is a good description of the development of the disorder&lt;br /&gt;
*Can we see an image relating to the signs and symptoms?&lt;br /&gt;
*'Clinical Manifestations' is a good thorough description, though I don't understand what going on with the last section 'Smooth Muscle' with the random '''&amp;amp;&amp;amp;&amp;amp;'''.  It is also a whole lot more general than the preceeding sections.  Is it finished?&lt;br /&gt;
*Could you give a bit more detail in 'Diagnosis'.  It would be good to explain each method a bit more and explain why they are relevant.&lt;br /&gt;
*Can you expand on the table a bit? ie P188, what exactly is it used for? How does it treat it? How effective is it? When is it administered etc&lt;br /&gt;
*No current research section? This could be a good conclusion to the page - the 'Stem Cell Transplant' section from 'Treatments' would fit better here&lt;br /&gt;
*The glossary needs to be finished and expanded on&lt;br /&gt;
*Overall the page is not bad, but more images are needed and some clarification on topics&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Group 10-&lt;br /&gt;
* Need more images to break up the text&lt;br /&gt;
* The introduction was really easy to read and had relevant information in it&lt;br /&gt;
* History should be in bullet point form to make it easier to access or at least have the dates in BOLD&lt;br /&gt;
* Does the history include dates after the 1800s? or did all research stop then?&lt;br /&gt;
* Epidemiology was good. Had all the relevant info&lt;br /&gt;
* Pathogenesis would benefit an image or a diagram&lt;br /&gt;
* Signs and symptoms could be put with clinical manifestations. &lt;br /&gt;
* What is the point of the ‘&amp;amp;&amp;amp;&amp;amp;’? in clinical manifestations and complications?&lt;br /&gt;
* Diagnosis could be expanded upon to explain how and why these methods work&lt;br /&gt;
* Treatment could also be expanded on. A list of drugs doesn’t explain much&lt;br /&gt;
* There is not current/future research section&lt;br /&gt;
* This is a good start to the project but more research needs to be done&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Group 10'''&lt;br /&gt;
* The structure and use of headings and subheadings is good, make sure you title your page. &lt;br /&gt;
* Good info very informative and it gives a good overview to DMD.&lt;br /&gt;
* HIstory has a lot of text could you use a timeline here? &lt;br /&gt;
* i think a picture of the pathogenesis would improve this section. &lt;br /&gt;
* Has your group look at the CNS and cognitive function of DMD boys its a controversial area as many people have different attitudes towards this but Dr Stewart Head a UNSW lecture actually studies DMD and is very informative in the area and recently published a article in the journal Brain.  &lt;br /&gt;
* The CNS is highly affected by the lack of dystrophin as well as GABA receptors. I think this area is very import to consider as it highly affects the boys at school. &lt;br /&gt;
* Could you add some pictures to your page or break it up with the use of more tables as it a lot of text in comparison to pictures and tables. &lt;br /&gt;
* Make sure your reference list is not doubled.&lt;br /&gt;
* Ensure all your pictures are referenced properly.&lt;br /&gt;
* Student image is present. &lt;br /&gt;
* This is a good start.&lt;br /&gt;
&lt;br /&gt;
'''Group 10 Assessment'''&lt;br /&gt;
*The history is a bit wordy…  Maybe consider consolidating the information into a table format for ease of reading.  Could also use a picture to add to it. &lt;br /&gt;
*The Epidemiology section could also use a picture and maybe some more information, if possible.  &lt;br /&gt;
*Point vs Frameshift mutation jpg:  Good drawing, but in the last portion of the picture the product is labeled as a ‘tunicated protein product.’  Isn’t it supposed to be a ‘truncated’ product? &lt;br /&gt;
*The Signs and Symptoms section could use some formatting; it just looks rather dull currently.  Maybe a chart or add in a picture? &lt;br /&gt;
*Smooth muscle section:  Why are there random &amp;amp;&amp;amp;&amp;amp;’s? &lt;br /&gt;
*The top portion of the Treatment section could use some more referencing… Good chart though! Only thing I’d suggest for it is to add some pictures if possible? &lt;br /&gt;
*Glossary term list is rather short… Are you sure there’s nothing else that needs defining for clarification for the reader? &lt;br /&gt;
*It would be a good idea also to have the glossary terms linked with the words in the wiki page, so that the reader can easily get access to the word in the glossary.  &lt;br /&gt;
*Some of the references are repetitive.  Make sure to fix this so they all link to a single reference instead of numerous ones of the same resource.  &lt;br /&gt;
*For the references given throughout the wiki, there isn’t any consistency in how the [#] is given.  The [#] is sometimes right after the sentence, sometimes a space is given between the sentence and citation number, and the end of the sentence (period or comma) is sometimes before or after the reference #...&lt;br /&gt;
*Overall, good information is included, just work on referencing things and the overall structure and you should be good! &lt;br /&gt;
--[[User:Z3391078|Z3391078]] 17:00, 27 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Peer Assessment: Group Project 10'''&lt;br /&gt;
*I think the section heading of introduction accompanied by the question what is muscular dystrophy, works really well.&lt;br /&gt;
*It might be good to include an image in the history section to break up the text, such as of someone prominently involved with the disease findings.&lt;br /&gt;
*The information in clinical manifestations and complications is well written. There needs to be some fix to the formatting under the smooth muscle heading where some '&amp;amp;'s have been repeated.&lt;br /&gt;
*The current and future prospects section is great. You have summarised what &lt;br /&gt;
*Some of the definitions of words in the glossary need to be completed e.g. atrophy and protease.&lt;br /&gt;
*Under the information in some of the images such as the fisrt one, you still need to add &amp;lt;nowiki&amp;gt;{{Template:2011 Student Image}}&amp;lt;/nowiki&amp;gt;.&lt;br /&gt;
*Some of the references are duplicated. They can instead be linked together using the 'multiple instances on a page' editing guidelines: http://embryology.med.unsw.edu.au/embryology/index.php?title=References#Multiple_Instances_on_Page.&lt;br /&gt;
*An additional section of external links might provide information for those wanting to know more.&lt;br /&gt;
--[[User:Z3217345|z3217345]] 10:50, 28 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
'''Peer Review'''&lt;br /&gt;
&lt;br /&gt;
* struture and format done well &lt;br /&gt;
* easy to read&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3060621|z3060621]] 21:58, 28 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
==Discussion==&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''GROUP 10!''' &lt;br /&gt;
&lt;br /&gt;
'''To make everything easier to follow, we have agreed to write any updates, info, discussion etc at the BOTTOM of this page, it will just stop us having to keep going up and down and wasting time trying to find the information we want.''' &lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
----&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Hey Everyone,&lt;br /&gt;
&lt;br /&gt;
So Mark went through each group today during the lab and the webpages and discussed where we should be up to. By next week, he expects the subheadings &amp;amp; some content to be up and running. He also recommended that we should have some more research going on in our discussion page. E.g. Research articles links, interesting sites etc.&lt;br /&gt;
&lt;br /&gt;
Topics have been allocated so please begin your research and typing up some content. We can further divide our headings if necessary, take a look at some other groups, they have some pretty good ideas. Mark will be checking this next week during our lab. He'll be coming around to each of us. &lt;br /&gt;
&lt;br /&gt;
So hopefully see you all next week !&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3332327|z3332327]] 12:53, 25 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
==Subheadings for assignment== &lt;br /&gt;
&lt;br /&gt;
Intro what is DMD&lt;br /&gt;
&lt;br /&gt;
History/timeline&lt;br /&gt;
&lt;br /&gt;
Genetic component&lt;br /&gt;
&lt;br /&gt;
Why is it an abnormality - Symptoms effect &lt;br /&gt;
&lt;br /&gt;
Diagnosis, future/current prospect (treatments?)&lt;br /&gt;
&lt;br /&gt;
2 case studies &lt;br /&gt;
&lt;br /&gt;
Glossary of terms &lt;br /&gt;
&lt;br /&gt;
====Post online any preferences you may have in terms of the topics you wish to research and by Sunday we will allocate sub topics====&lt;br /&gt;
--[[User:Z3332629|z3332629]] 13:09, 18 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Okay hey guys just to get the discussion going, umm I don't mind doing the first 2 on the list. And the &amp;quot;Why is it an abnormality - Symptoms effect&amp;quot; sounds pretty interesting as well. &lt;br /&gt;
What are your preferences?? :)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3330313|z3330313]] 14:55, 23 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
Hey Everyone, Im happy to do the diagnosis/current/future prospects point and a case study.&lt;br /&gt;
&lt;br /&gt;
--z3332327 15:36, 23 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
Hello,&lt;br /&gt;
I would like to do the 'why is it an abnormality - symptoms effect' and then it will be easy to incorporate that with a case study. So I guess that leaves Ashleigh to do the genetic component mostly, but we will ALL help out with that :D&lt;br /&gt;
How does this sound?&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3332824]] 10:22, 25 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
Duchenne Muscular Dystrophy - recessive X-linked form of muscular dystrophy, which results in muscle degeneration, difficulty walking, breathing, and death. It  is caused by a mutation of the dystrophin gene at locus Xp21.&lt;br /&gt;
&lt;br /&gt;
Osteogenesis Imperfecta - caused by defect in the gene that produces type 1 collagen, an important building block of bone. Most cases of OI are inherited from a parent, although some cases are the result of new genetic mutations. A person with OI has a 50% chance of passing on the gene and the disease to their children.&lt;br /&gt;
&lt;br /&gt;
Congenital Adrenal Hyperplasia - refers to any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of cortisol from cholesterol by the adrenal glands (steroidogenesis).&lt;br /&gt;
&lt;br /&gt;
DiGeorge Syndrome - congenital immunodeficiency. Di George syndrome is an inherited condition that lies at the more severe end of a spectrum of syndromes (also known as CATCH22 or 22q11.2 deletion syndrome) that occur when a part of the DNA on chromosome 22 is missing. Several different genes are lost, resulting in a collection of different features, including problems with the immune system, congenital heart defects and abnormalities of the parathyroid glands.&lt;br /&gt;
[[User:Z3332327|z3332327]] 22:28, 7 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
Review Article: Targeting RNA to treat neuromuscular disease. Muntoni, F &amp;amp; Wood, M.J.A. (2011) Nature Reviews Drug Discovery 10, 621-637.&lt;br /&gt;
http://www.nature.com.wwwproxy0.library.unsw.edu.au/nrd/journal/v10/n8/full/nrd3459.html &lt;br /&gt;
&lt;br /&gt;
Research Article: Ahmad N, Welch I, Grange R, Hadway J, Dhanvantari S, Hill D, Lee TY, Hoffman LM. Use of imaging biomarkers to assess perfusion and glucose metabolism in the skeletal muscle of dystrophic mice. BMC Musculoskelet Disord.&lt;br /&gt;
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3141608/pdf/1471-2474-12-127.pdf&lt;br /&gt;
&lt;br /&gt;
z3332327 23:11, 10 August 2011 (EST)&lt;br /&gt;
______________________________________________________________________________________________________________________________________________&lt;br /&gt;
&lt;br /&gt;
'''Friedreich Ataxia –''' Is caused by defect/mutation of the gene FXN, the disorder is recessive. It is an inherited disease that causes nervous system damage and impaired muscle coordination (ataxia) through spinal cord, peripheral nerve and cerebellum degeneration.&lt;br /&gt;
&lt;br /&gt;
'''Lesch-Nyhan Syndrome –''' Rare inherited disorder where there is a deficiency of the enzyme: hypoxanthine-guanine phosphoribosyl transferase (HPRT). This is caused by mutations of the HPRT gene located on the x-chromosome. This disorder is an x-linked recession disease, it causes kidney probems (building up of uric acid in all body fluids) and moderate mental retardation. &lt;br /&gt;
&lt;br /&gt;
'''Farber's Disease –''' Is an inherited autosomal recessive lysosomal storage disease. The gene responsible making the enzyme ceramidase is mutated. This enzyme breaks down fatty material in the body’s cell.  [not recommended to do, limited disease]&lt;br /&gt;
&lt;br /&gt;
'''Mucopolysaccharidoses –''' Inherited metabolic disease where a defective or missing enzyme cause large amounts of complex sugar molecules to accumulate in harmful amounts in the bodies cells and tissues. They can’t break down these glycosaminoglycans into smaller chains. It ends up causing progressive cellular damage which affects appearance, physical abilities, organ and system functioning, and, in most cases, mental development.&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3330313|z3330313]] 23:43, 7 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
{{2011ProjectsMH}}&lt;br /&gt;
Hey group 10 members!&lt;br /&gt;
I've quickly done some research on the top 4 listed disorders.&lt;br /&gt;
All of them had loads of info!!&lt;br /&gt;
Let me know what you think and lets say by monday we should pick a topic?&lt;br /&gt;
&lt;br /&gt;
Angelman syndrome &lt;br /&gt;
-	rare neuro-genetic disorder&lt;br /&gt;
-	characterised by severe intellectual disability, speech impediment, sleep disturbance, unstable jerky gait, seizures and usually a happy demeanour&lt;br /&gt;
-	occurs about one in 20,000 births&lt;br /&gt;
-	Severe intellectual disability and developmental delay&lt;br /&gt;
-	Profound speech impairment&lt;br /&gt;
-	Movement for balance disorder&lt;br /&gt;
&lt;br /&gt;
Turner’s syndrome&lt;br /&gt;
-	affects about 1 in every 2,500 girls&lt;br /&gt;
-	usually short in height&lt;br /&gt;
-	born with only one X chromosome or they are missing part of one X chromosome&lt;br /&gt;
-	prevents the ovaries from developing properly&lt;br /&gt;
-	kidney problems, high blood pressure, heart problems, overweight, hearing difficulties, diabetes, and thyroid problems&lt;br /&gt;
&lt;br /&gt;
Williams Syndrome&lt;br /&gt;
-	rare genetic disorder characterized by mild to moderate mental retardation or learning difficulties, a distinctive facial appearance, and a unique personality that combines over-friendliness and high levels of empathy with anxiety.&lt;br /&gt;
-	Common problem: cardiovascular disease caused by narrowed arteries&lt;br /&gt;
-	A random genetic mutation (deletion of a small piece of chromosome 7), rather than inheritance, most often causes the disorder&lt;br /&gt;
-	50 percent chance of passing it on if they decide to have children&lt;br /&gt;
&lt;br /&gt;
Cystic Fibrosis&lt;br /&gt;
-	Cystic fibrosis (CF) is a recessive genetic disease of the mucus and sweat glands, which affects the entire body.&lt;br /&gt;
-	affects mostly your lungs, pancreas, liver, intestines, sinuses and sex organs&lt;br /&gt;
-	makes it easy for bacteria to grow  &lt;br /&gt;
-	Difficulty breathing&lt;br /&gt;
-	multitude of other symptoms, including sinus infections, poor growth, diarrhea, and infertility result from the effects of CF on other parts of the body&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3332629|z3332629]] 14:10, 4 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
Sorry i accidently posted it on the actual project page lol&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3332629|Ashleigh Pontifex]] 13:31, 10 August 2011 (EST)&lt;br /&gt;
Review article: Functional characteristics of dystrophic skeletal muscle: insights from animal models.&lt;br /&gt;
Jon F. Watchko1, Terrence L. O'Day1, and Eric P. Hoffman2 &lt;br /&gt;
http://jap.physiology.org/content/93/2/407.long&lt;br /&gt;
&lt;br /&gt;
Research article: The common missense mutation D489N in TRIM32 causing limb girdle muscular dystrophy 2H leads to loss of the mutated protein in knock-in mice resulting in a Trim32-null phenotype &lt;br /&gt;
Elena Kudryashova1, Arie Struyk2,†, Ekaterina Mokhonova1, Stephen C. Cannon2 and Melissa J. Spencer1,* &lt;br /&gt;
http://hmg.oxfordjournals.org/content/early/2011/07/28/hmg.ddr311.long&lt;br /&gt;
--[[User:Z3332629|Ashleigh Pontifex]] 13:31, 10 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
----&lt;br /&gt;
Hello!&lt;br /&gt;
So my four diseases:&lt;br /&gt;
&lt;br /&gt;
'''1. Fragile X Retardation:''' males mostly, the code CGG is repeated on a fragile area of the X chromosome. The more repeats, the more problems. See http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002633/ for more details on symptoms etc.&lt;br /&gt;
&lt;br /&gt;
'''2. Klinefelter Syndrome:''' extra X chromosome in males - XXY. Abnormal body proportions, infertility, less hair, big boobs, problems with their genitals (poor things). http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001420/&lt;br /&gt;
&lt;br /&gt;
'''3. Triple X:''' I think this is a trisomy and should be avoided? It is having XXX in females. &lt;br /&gt;
&lt;br /&gt;
'''4. Thalassemia:''' blood disorder in which you have abnormal haemoglobin. Results lead to excessive destruction of RBC which leads to anaemia. Inherited from BOTH parents. Bone deformities in face, fatigue, growth failure, jaundice. See http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001613/&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Personally, out of my four I think either Fragile X or Thalassemia will be the most interesting. Angelman Syndrome and Duchenne Muscular Dystrophy also sound cool. I think we should avoid all ones that are really specific biochem disorders (or to that effect)- something like Mucopolysaccharidoses - because we might get bogged down in the details and have to spend ages figuring out what its actually doing. &lt;br /&gt;
&lt;br /&gt;
What is everyone else's thoughts?&lt;br /&gt;
See you tomorrow, &lt;br /&gt;
Rhiannon.&lt;br /&gt;
&lt;br /&gt;
I think we should do Duchenne Muscular Dystrophy. &lt;br /&gt;
--[[User:Z3332629|Ashleigh Pontifex]] 11:03, 11 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
I agree !&lt;br /&gt;
Lisa Xiao 11:04, 11 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
Yes that sounds good, lets do it :) &lt;br /&gt;
--[[User:Z3330313|Joanna Pak]] 11:38, 11 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
Yep, I'm all for it. I'm glad we can bags it before everyone else :D&lt;br /&gt;
Rhiannon &lt;br /&gt;
&lt;br /&gt;
--[[User:Z3332824|Rhiannon Bice]] 11:40, 11 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Useful Links ==&lt;br /&gt;
&lt;br /&gt;
[http://www.genome.gov/19518854]National Human Genome Research Institute: Fact Sheet on Duchennes&lt;br /&gt;
&lt;br /&gt;
'''Treatment'''&lt;br /&gt;
&lt;br /&gt;
No known cure. However treatment aims to manage symptoms to maximize the quality of life. &lt;br /&gt;
Treatments includes:&lt;br /&gt;
- Physical Therapy: in order to maintain muscle strength and function. (Inactivity leads to weakened muscles and can worsen the condition)&lt;br /&gt;
- Orthopedic appliances such as braces and wheelchairs are available to improve mobility&lt;br /&gt;
- Aggressive management of dilated cardiomyopathy with anti-congestive medications&lt;br /&gt;
- The medication prednisone — a steroid — is given to improve the strength and function of individuals with DMD (However there are side affects associated with this medication)&lt;br /&gt;
&lt;br /&gt;
'''Future Prospects'''&lt;br /&gt;
- Gene Therapy&lt;br /&gt;
&lt;br /&gt;
[http://www.nlm.nih.gov/medlineplus/ency/article/000705.htm]Medline Plus: Encyclopedia&lt;br /&gt;
&lt;br /&gt;
--z3332327 15:48, 16 August 2011 (EST)&lt;br /&gt;
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&lt;br /&gt;
Hey guys, I couldn't copy a picture relating to Duchenne, so i just got a random one :)&lt;br /&gt;
Rhiannon. &lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
[[File:Patterns of zona pellucida deposition and ZPC-ubiquitin colocalization in porcine ocyte-cumulus complexes isolated from small antral follicles.JPG]]&lt;br /&gt;
&lt;br /&gt;
Patterns of zona pellucida deposition and ZPC-ubiquitin colocalization in porcine ocyte-cumulus complexes isolated from small antral follicles. &lt;br /&gt;
&amp;lt;ref&amp;gt;&amp;lt;pubmed&amp;gt;21383844&amp;lt;/pubmed&amp;gt;&amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;references/&amp;gt;&lt;br /&gt;
&lt;br /&gt;
[[File:Flow of participants.JPG]]&lt;br /&gt;
&lt;br /&gt;
File: Flow of Participants&lt;br /&gt;
--Lisa Xiao 12:43, 18 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
[[File:1532-429X-13-20-1.jpg]]&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3330313|z3330313]] 12:51, 18 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
Hey girls its Ashleigh, sorry I've been quite sick over the last week. &lt;br /&gt;
How about me copy and paste the headings again and write our names next to our bit and we can leave suggests as to what can fit into that heading etc? Ps did I miss anything from last weeks lab??&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3332629|Ashleigh Pontifex]] 19:38, 30 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== Official discussion ==&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
''Subheadings for assignment'' &lt;br /&gt;
&lt;br /&gt;
Intro what is DMD&lt;br /&gt;
&lt;br /&gt;
History/timeline&lt;br /&gt;
&lt;br /&gt;
Genetic component&lt;br /&gt;
&lt;br /&gt;
Why is it an abnormality - Symptoms effect &lt;br /&gt;
&lt;br /&gt;
Diagnosis, future/current prospect (treatments?)&lt;br /&gt;
&lt;br /&gt;
2 case studies &lt;br /&gt;
&lt;br /&gt;
Glossary of terms &lt;br /&gt;
&lt;br /&gt;
====Post online any preferences you may have in terms of the topics you wish to research and by Sunday we will allocate sub topics====&lt;br /&gt;
--[[User:Z3332629|z3332629]] 13:09, 18 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Just found an awesome website!&lt;br /&gt;
&lt;br /&gt;
http://emedicine.medscape.com/article/1173204-overview&lt;br /&gt;
&lt;br /&gt;
Check it out when you can, it has info on history &amp;amp; treatment as well as some really good images.&lt;br /&gt;
&lt;br /&gt;
[[File:Point vs frameshift mutations.jpg|500px|]]&lt;br /&gt;
&lt;br /&gt;
Whoever is doing future direction of treatment etc., check out this article on PubMed&lt;br /&gt;
&lt;br /&gt;
Cardiomyopathy of Duchenne muscular dystrophy: current understanding and future directions.&lt;br /&gt;
&lt;br /&gt;
http://www.ncbi.nlm.nih.gov/pubmed/21674516?tool=MedlinePlus&lt;br /&gt;
&lt;br /&gt;
Abstract&lt;br /&gt;
&lt;br /&gt;
Duchenne muscular dystrophy (DMD) is the most common and severe form of muscular dystrophy and occurs in 1 in 3500 male births. Improved survival due to improvements in clinical care of the musculoskeletal and respiratory systems has led to an increased incidence of cardiomyopathy. Cardiac-related deaths are now seen in approximately 20% of DMD patients. Our current understanding of DMD cardiomyopathy has increased significantly over the past 10 years, but further research is required to improve cardiac treatment and outcomes in DMD. This review provides a summary of the current literature and discussion of potential new therapies for DMD cardiomyopathy.&lt;br /&gt;
&lt;br /&gt;
Copyright © 2011 Wiley Periodicals, Inc.&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3332629|Ashleigh Pontifex]] 20:00, 30 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
Some quick points from:&lt;br /&gt;
http://ghr.nlm.nih.gov/condition/duchenne-and-becker-muscular-dystrophy&lt;br /&gt;
&lt;br /&gt;
-	Mutations in the DMD gene causes DMD&lt;br /&gt;
&lt;br /&gt;
-	The DMD gene provides instructions for making a protein called dystrophin that helps stabilize and protect muscle fibers and may play a role in chemical signaling within cells.&lt;br /&gt;
 &lt;br /&gt;
-	Mutations alter the structure or function of dystrophin, or prevent any functional dystrophin from being produced.&lt;br /&gt;
 &lt;br /&gt;
-	Muscle cells without this protein become damaged as muscles repeatedly contract and relax with use. The damaged fibers weaken and die over time, leading to the muscle weakness and heart problems characteristic of Duchenne and Becker muscular dystrophies.&lt;br /&gt;
&lt;br /&gt;
-	This condition is inherited in an X-linked recessive pattern.&lt;br /&gt;
 &lt;br /&gt;
-	Males are affected by X-linked recessive disorders much more frequently than females. &lt;br /&gt;
&lt;br /&gt;
-	Fathers cannot pass X-linked traits to their sons.&lt;br /&gt;
&lt;br /&gt;
-	Females who carry a DMD gene mutation also have an increased risk of developing heart abnormalities including dilated cardiomyopathy.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Hey guys &lt;br /&gt;
I found this slide show on DMD, quite easy to understand because all u have to do is listen!&lt;br /&gt;
So its http://hstalks.com.wwwproxy0.library.unsw.edu.au/main/citation_info.php?c=252&lt;br /&gt;
Oh and I'm not 100% sure on how to reference properly so bear with me if I make a mistake on the group page. And I'm going to try and borrow some books DMD to see if there's more of an indepth history of the disorder. &lt;br /&gt;
If u guys feel your part is too big, let me know because I'm willing to help out!!&lt;br /&gt;
&lt;br /&gt;
(http://www.whonamedit.com/doctor.cfm/950.html)&lt;br /&gt;
--[[User:Z3330313|Joanna Pak]] 02:10, 1 September 2011 (EST)&lt;br /&gt;
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&lt;br /&gt;
&lt;br /&gt;
I've been doing a bit of research and found some good papers.&lt;br /&gt;
&lt;br /&gt;
Rodino-Klapac LR, Chicoine LG, Kaspar BK, Mendell JR. Gene therapy for duchenne muscular dystrophy: expectations and challenges. Arch Neurol. Sep 2007;64(9):1236-41&lt;br /&gt;
&lt;br /&gt;
Bogdanovich S, Perkins KJ, Krag TO. Therapeutics for Duchenne muscular dystrophy: current approaches and future directions. J Mol Med. Feb 2004;82(2):102-15&lt;br /&gt;
&lt;br /&gt;
Cossu G, Sampaolesi M. New therapies for Duchenne muscular dystrophy: challenges, prospects and clinical trials. Trends Mol Med. Dec 2007;13(12):520-6&lt;br /&gt;
&lt;br /&gt;
AND the a copy of original book by Gower (one of the first to describe the disease etc) is at the library! Its called ' A manual of Diseases of the Nervous System'. Pages 378-393. I will be checking that out tonight or tomorrow.&lt;br /&gt;
-Rhi. &lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Treatment:&lt;br /&gt;
http://emedicine.medscape.com/article/1173204-overview -- Useful link&lt;br /&gt;
&lt;br /&gt;
Inflammation is implicated in the pathogenesis of the dystrophinopathies despite the fact that most biopsies in patients with Duchenne muscular dystrophy do not show inflammatory cells. Corticosteroids have been used for more than 40 years with some success to treat patients with Duchenne muscular dystrophy. The central role of inflammation in the pathogenesis of the dystrophinopathies is suggested by the fact that use of corticosteroids, such as prednisone, results in prolongation of ambulation, maintenance of strength and function, and delay in the development of scoliosis. The side effects are well-known and do temper many clinicians enthusiasm to recommend its use in small children, patients with behavior or learning issues, or any patient for chronic use. A detailed understanding of the mechanism of action for corticosteroids on the body is still a large mystery.&lt;br /&gt;
&lt;br /&gt;
To date, corticosteroids are the only medication that has demonstrated a modest benefit in modifying the course of the disease.[5] Clinical improvement is seen as early as 1 month after starting treatment and lasts as long as 3 years. Children who discontinue corticosteroids for various reasons soon revert to natural downward progression of the disease. It is hypothesized that prednisone reduces tissue inflammation, suppresses cytotoxic cells, improves calcium homeostasis, and stimulates myoblasts.&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3332327|Lisa Xiao]] 16:45, 31 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
----&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
== '''Clarification on components of the assignment''' ==&lt;br /&gt;
&lt;br /&gt;
*If we find papers/books/info relating to another section that isn't ours, clearly write the name of the person it goes to and link/mention it e.g. Lisa: xyz&lt;br /&gt;
(this will just make it really easy to find)&lt;br /&gt;
&lt;br /&gt;
*When we have the majority of the info up, we can meet and format the page, as well as edit it to make it flow. &lt;br /&gt;
&lt;br /&gt;
*Keep checking this page for updates! Make this the main communication method between us, so keep an eye on it :D&lt;br /&gt;
&lt;br /&gt;
*We also agreed that any updates will be here at the bottom of the page, just makes the flow easier. So keep updates down here!!&lt;br /&gt;
&lt;br /&gt;
Sections:&lt;br /&gt;
&lt;br /&gt;
Jo: intro/history/epidemiology&lt;br /&gt;
&lt;br /&gt;
Ashleigh: genetic component/aetiology/pathogenesis (close work with Rhiannon)&lt;br /&gt;
 &lt;br /&gt;
Rhiannon: signs and symptoms/clinical manifestations/pathogenesis/CASE STUDY 1 (close work with Ashleigh)&lt;br /&gt;
&lt;br /&gt;
Lisa: Diagnosis/treatment/futher research and directions/CASE STUDY 2&lt;br /&gt;
&lt;br /&gt;
*Also, do we want to write anything about Becker's syndrome (the milder version of DMD?) Maybe we could do a comparison table if we can be bothered?&lt;br /&gt;
--[[User:Z3332824|Rhiannon Bice]] 13:02, 1 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Hey guys, during my own research I've come across a lot of resources that each of you could use. They are only suggestions, but a few look really good!! I just thought I'd put them here to help us all along instead of you starting from scratch. I've spent most of today researching so its a bit of a waste if I don't pass it on :)&lt;br /&gt;
&lt;br /&gt;
*'''Ashleigh'''- you may find details these sites helpful: http://www.nature.com/nature/journal/v333/n6172/abs/333466a0.html;  http://www.unsworks.unsw.edu.au/primo_library/libweb/action/dlDisplay.do?vid=UNSWORKS&amp;amp;docId=unsworks_8295;  http://docentes.cs.urjc.es/~odeluis/Docencia/ABP/Articulos/davies.pdf&lt;br /&gt;
&lt;br /&gt;
*'''Lisa:''' http://www.sciencedirect.com/science/article/pii/0959437X9180033I. There is also a book at the library called &amp;quot;''Myoblast Transfer Therapy&amp;quot;'' written by the Muscular Dystrophy Association that you may find useful. It can be found at the library at Level 8, Main Library (MB 617.4730592/1). Also, I used a lot information found in the paper at {http://onlinelibrary.wiley.com/doi/10.1002/mus.22097/full}, so this may be a good starting point for treatment, especially about problems relating to the cardiac/respiratory systems. They also give some good info on the treatments available. Basically, you will get a lot out of that paper! If you can't download it properly, buzz me your email and I'll send it to you. &lt;br /&gt;
&lt;br /&gt;
*'''Jo:''' Book called ''The history of a genetic disease : Duchenne muscular dystrophy or Meryon's disease''  Level 8, Main Library (MB 616.748/6). I think also when we all have our info about the actual disease written it will be heaps easier to write the introduction. &lt;br /&gt;
&lt;br /&gt;
*YO! '''Found a LECTURE''' from a guy in America about it: http://hstalks.com/main/browse_talk_view.php?t=72&amp;amp;s=72&amp;amp;s_id=33&amp;amp;c=252. You can download the lecture slides too and use them (of course, we have to reference it properly as well). I think you found this before Jo? Anyway, check it out!!!&lt;br /&gt;
&lt;br /&gt;
*I have found a tonne of papers as well, so if everyone puts up their emails I can send it to you all. Even if you get one good sentence to use out of the whole paper then thats great!&lt;br /&gt;
&lt;br /&gt;
-Chamberlain, J. (2007), &amp;quot;Duchenne Muscular Dystrophy&amp;quot;, in Dunn, B. (ed.), Protein Epidemiology: Diseases at the Level of Protein Structure and Function, The Biomedical &amp;amp; Life Sciences Collection, London (online at http://hstalks.com/bio)&lt;br /&gt;
&lt;br /&gt;
Ashleigh's writing - maybe use?: Normal functioning of Dystrophin verses impaired functioning&lt;br /&gt;
&lt;br /&gt;
Dystrophin is part of a group of proteins found in skeletal and cardiac muscle that work to protect and strengthen muscles fibers as they contract and relax upon movement. Dystrophin also functions in connecting muscle cell’s with other proteins and molecules in order to send and receive chemical signals amongst cells and to anchor muscle fibers. &amp;lt;ref&amp;gt;U.S. National Library of Medicine (2011). “Duchenne and Becker muscular dystrophy”. Author unknown, Genetics Home Reference. Accessed via http://ghr.nlm.nih.gov/condition/duchenne-and-becker-muscular-dystrophy &amp;lt;/ref&amp;gt;	&lt;br /&gt;
&lt;br /&gt;
Skeletal and cardiac muscle cells of Duchennes patients have no functional dystrophin present and therefore the muscle fibers become extensively damaged as they contract and relax with use. Overtime, these damaged cells weaken and eventually die resulting in multiple health implications. &amp;lt;ref&amp;gt;U.S. National Library of Medicine (2011). “Duchenne and Becker muscular dystrophy”. Author unknown, Genetics Home Reference. Accessed via http://ghr.nlm.nih.gov/condition/duchenne-and-becker-muscular-dystrophy &amp;lt;/ref&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
---Rhiannon.&lt;/div&gt;</summary>
		<author><name>Z3217043</name></author>
	</entry>
	<entry>
		<id>https://embryology.med.unsw.edu.au/embryology/index.php?title=Talk:2011_Group_Project_9&amp;diff=73044</id>
		<title>Talk:2011 Group Project 9</title>
		<link rel="alternate" type="text/html" href="https://embryology.med.unsw.edu.au/embryology/index.php?title=Talk:2011_Group_Project_9&amp;diff=73044"/>
		<updated>2011-09-28T23:57:17Z</updated>

		<summary type="html">&lt;p&gt;Z3217043: &lt;/p&gt;
&lt;hr /&gt;
&lt;div&gt;[[2011_Group_Project_9|'''Group 9''']]: [[User:z3331469]] | [[User:z3331556]] | [[User:z3332178]] | [[User:z3332183]]&lt;br /&gt;
&lt;br /&gt;
{{2011GroupDiscussionMH}}&lt;br /&gt;
&lt;br /&gt;
==Peer Review==&lt;br /&gt;
&lt;br /&gt;
Peer Review&lt;br /&gt;
&lt;br /&gt;
Some places for improvement. &lt;br /&gt;
&lt;br /&gt;
:*Double spacing of paragraphs looks awkward.&lt;br /&gt;
&lt;br /&gt;
:*History section would benefit by placing the information into the timeline rather than paragraphs as it is a bit hard to follow.&lt;br /&gt;
&lt;br /&gt;
:*In the diagnosis section each of the hallmark symptoms could be further explained rather than just listed.  &lt;br /&gt;
&lt;br /&gt;
:*The management steps could be explained rather than just listed. Not enough information in this section. Treatment is very choppy, should be written in paragraphs not sentences. &lt;br /&gt;
&lt;br /&gt;
:*Research could be summarised and papers talked about rather than just listing papers of current research or individuals that are researchers.&lt;br /&gt;
&lt;br /&gt;
:*Glossary needs to be finished. If you didn’t have time, should have gotten rid of terms.&lt;br /&gt;
&lt;br /&gt;
:*References need to be fixed. There are many that are just a web address. Full citation is needed. Several different styles of referencing used, just have one.&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3217043|z3217043]] 09:57, 29 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
Group 9 Peer Review&lt;br /&gt;
&lt;br /&gt;
*Introduction is well written however a simple image would make this more appealing&lt;br /&gt;
*Epidemiology should be earlier in the page&lt;br /&gt;
*Needs an image in history to break up the text. Even the timeline put into a table would help&lt;br /&gt;
*Some headings could be more general as not to confuse the reader with scientific jargon&lt;br /&gt;
*Text/image ratio is not quite balance. Less text and more images would be better&lt;br /&gt;
*Phenotype section is well written-well done&lt;br /&gt;
*Glossary needs to be extended&lt;br /&gt;
*Referencing is fine&lt;br /&gt;
*Overall, a well researched project however better organisation of text and images will help with the presentation of this information&lt;br /&gt;
--[[User:Z3308965|Fleur McGregor]] 09:44, 29 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
*Intro: Clear and concise information but you definitely need an image.&lt;br /&gt;
&lt;br /&gt;
*History: Stick to the timeline, no need for long paragraphs. &lt;br /&gt;
&lt;br /&gt;
*Genetics: Love th atble and the colour is excellent. The  information above the table needs to be broken down with sub-headings.&lt;br /&gt;
&lt;br /&gt;
*Diagnosis:  The image needs more explanation or referred to in the writings to get a better understanding. &lt;br /&gt;
&lt;br /&gt;
*Epidemiology:Confused as to why this sections is positioned here. It should be one of the initial sections. Only one line for the entire section, because obviously management and treatment need their own section. &lt;br /&gt;
&lt;br /&gt;
*Phenotype: The student drawn image is excellent and very well suited.&lt;br /&gt;
&lt;br /&gt;
*Cardiac conditions: difficult to follow the large blocks of text.&lt;br /&gt;
&lt;br /&gt;
*Current research: Poorly done in comparison to the rest of the project. Needs more work.&lt;br /&gt;
&lt;br /&gt;
*Glossary: There is many more words that need to be in this section. A lot of terminology has been used in the previous parts.&lt;br /&gt;
&lt;br /&gt;
*Overall, great job (some parts more than others), need to make the page more cohesive by using a common formatting style, add plenty more words to the glossary and revise and trim some of the longer segments.&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3290270|z3290270]] 02:20, 29 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
Group 9&lt;br /&gt;
&lt;br /&gt;
Hey, your page has a lot of very interesting content and some unique self drawn images. I thoroughly enjoyed this page, thanks&lt;br /&gt;
&lt;br /&gt;
#The key points relating to the topic that your group allocated are clearly described. &lt;br /&gt;
#* Introduction: Inclusion of incidence would be nice&lt;br /&gt;
#* History: very informative and a nice simple timeline&lt;br /&gt;
#* Genetics: Good, succinct section, especially liked the table&lt;br /&gt;
#* Diagnosis: needs referencing. Is diagnosis only postnatal? What is the average age of diagnosis for this disease?&lt;br /&gt;
#* Management and Treatment: Seems a little out of place under epidemiology, I think it should be place later on &lt;br /&gt;
#* Phenotype:Reference?&lt;br /&gt;
#* Cardiac conditions: maybe give explanations for atrial and ventricular septal defect, just brief descriptions would suffice. Why is it so that males are more likely to suffer CVD than females?&lt;br /&gt;
#The choice of content, headings and sub-headings, diagrams, tables, graphs show a good understanding of the topic area. &lt;br /&gt;
#* good subheadings, interesting self drawn images. However, this page needs to find a balance in text and images&lt;br /&gt;
#Content is correctly cited and referenced.&lt;br /&gt;
#* needs to work on referencing&lt;br /&gt;
#The wiki has an element of teaching at a peer level using the student's own innovative diagrams, tables or figures and/or using interesting examples or explanations.&lt;br /&gt;
#Evidence of significant research relating to basic and applied sciences that goes beyond the formal teaching activities. &lt;br /&gt;
#* research done is evident, just need to reference&lt;br /&gt;
#Relates the topic and content of the Wiki entry to learning aims of embryology. &lt;br /&gt;
#Clearly reflects on editing/feedback from group peers and articulates how the Wiki could be improved (or not) based on peer comments/feedback. Demonstrates an ability to review own work when criticised in an open edited wiki format. Reflects on what was learned from the process of editing a peer's wiki. &lt;br /&gt;
#Evaluates own performance and that of group peers to give a rounded summary of this wiki process in terms of group effort and achievement. &lt;br /&gt;
#The content of the wiki should demonstrate to the reader that your group has researched adequately on this topic and covered the key areas necessary to inform your peers in their learning. &lt;br /&gt;
#* very interesting content, informative&lt;br /&gt;
#Develops and edits the wiki entries in accordance with the above guidelines&lt;br /&gt;
&lt;br /&gt;
&amp;quot;What would improve this project....&amp;quot; &lt;br /&gt;
&lt;br /&gt;
* referencing&lt;br /&gt;
* more images&lt;br /&gt;
* glossary; lacking a lor of terms&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3291643|z3291643]] 00:10, 29 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Peer Review for Group 9'''&lt;br /&gt;
&lt;br /&gt;
*Introduction gives a well rounded view of the syndrome&lt;br /&gt;
*Maybe in the history of the syndrome you can find images of the 2 historic people for the syndrome, i.e. one for william and one for beuren.&lt;br /&gt;
*In the timeline, isn’t there any important contributions made between ’93 and ’06. Other than that it was well made.&lt;br /&gt;
*In the table found in the genetics part of the page, Elastin row and GTF2I row has no referencing to the information presented. Please add them.&lt;br /&gt;
*I think the treatment under epidemiology should have its own title as it only refers to epidemiology slightly&lt;br /&gt;
*The phenotype of Williams syndrome has no referencing in this section. Also i don’t think you need a table to sort this information as it is, rather have them under little subheadings&lt;br /&gt;
*The other problems subheading under cardiac conditions has no info, either put some in or remove it later.&lt;br /&gt;
*Under the endocrine section, the thyroid part hasd no referencing please include it.&lt;br /&gt;
*Some information in the table found in the ‘other abnormalities section lacks some referencing aswell.&lt;br /&gt;
*In the structural differences of the brain section, the top 2 paragraphs lack referencing.&lt;br /&gt;
*The Cognitive, Behavioural and Neurological Phenotype section was interesting to read.&lt;br /&gt;
*The information under Specialised Facilities and Supportive Associations seems a bit unnecessary for this style of assignment. Rather have links to these organisations rather than having them explained on the page.&lt;br /&gt;
*More current literature in regards to the syndrome could also be presented to give the reader a sense of direction in which way the research is heading&lt;br /&gt;
*Glossary must be updated and expanded, many words are used that are not explained&lt;br /&gt;
*Referencing is done very well&lt;br /&gt;
*Need to balance picture to words ratio as it is heavy on the word side. I understand its hard to obtain, thus maybe drawing them would be better alternative. &lt;br /&gt;
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--[[User:Z3291317|Z3291317]] 23:56, 28 September 2011 (EST)&lt;br /&gt;
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peer review: &lt;br /&gt;
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*Intro and history are great lead ins to your project, but id really appreciate a picture or two for those who can't visualise what you are trying to say.&lt;br /&gt;
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*No glossary for those verbose words such as haploinsufficiency?&lt;br /&gt;
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*The order of your headings is really out of order, how can you go from aetiology to diagnosis and then back to epidemiology? &lt;br /&gt;
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Introduction and history: These sections need pictures. It is difficult to read such a large block of text.&lt;br /&gt;
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*management and treatment should be well explained, not everyone knows how a urine analysis shows a person has Williams-Beuren Syndrome&lt;br /&gt;
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*how about subheadings under treatment? &lt;br /&gt;
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*I think your headings are really confusing, no logical order or why one follows the next.  &lt;br /&gt;
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*nothing under other problems section of the cardiac conditions..?&lt;br /&gt;
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*combine Genitourinary, cardiac conditions and endocrine under one heading.&lt;br /&gt;
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*Cognitive, Behavioural and Neurological Phenotype needs to have some pictures to break up the tonne of writing! &lt;br /&gt;
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*whilst Specialised Facilities and Supportive Associations is a good idea, maybe just include a link instead of actually listing so much. This isn't a major part of the project so i don't think so much detail needs to be into it.&lt;br /&gt;
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*current research should describe what is happening..not just listing the new articles.&lt;br /&gt;
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* very little glossary&lt;br /&gt;
--[[User:Z3291423|Jasjit Walia]] 23:42, 28 September 2011 (EST)&lt;br /&gt;
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'''Group 9'''&lt;br /&gt;
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Introduction and history: These sections need pictures. It is difficult to read such a large block of text.&lt;br /&gt;
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Genetics: Good section overall. The genetics could be explained in a bit more detail and the pictures could be a bit bigger.&lt;br /&gt;
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Diagnosis: Good section- well written and clearly explained.&lt;br /&gt;
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Epidemiology: Would be better in paragraphs not dot points.&lt;br /&gt;
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Phenotype table: I think it would look better if the colours were changed so that it looks more professional.&lt;br /&gt;
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Cardiac/genitourinary/endocrine: These sections need more pictures to break up all the text.&lt;br /&gt;
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Cognitive phenotype: This section is by far the most detailed and well explained section. It would be much better with pictures though. Great work.&lt;br /&gt;
--[[User:Z3291324|z3291324]] 23:26, 28 September 2011 (EST)&lt;br /&gt;
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''' Group 9 Peer Review'''&lt;br /&gt;
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* Interesting introduction, however it's difficult to appreciate without a diagram of sorts. The introduction is succinct and leads well into the project. The history of the disease is also well presented, and the timeline quite clear - in general, these sections only require an image (if possible) to be complete!&lt;br /&gt;
* The section on genetic factors and etiology is well explained, and the variation of formats makes the information easy to obtain. &lt;br /&gt;
* Diagnosis section is also well laid out; perhaps more referencing in this section could explore different methods (if there are any?). &lt;br /&gt;
* Epidemiology is outlined well, although I don't think you want to put management and treatment in the same section as epidemiology; they should be on their own independent sections. I think you may have slightly misunderstood epidemiology (occurrence, bias to sex/age/gender/race, etc.). &lt;br /&gt;
* Phenotype is well set out, and the student-drawn image has been well chosen for this section! &lt;br /&gt;
* Cardiac Conditions, Genitourinary conditions, Endocrine, Other Associated Medical Conditions etc. &amp;lt;-- make these sections subsections of Clinical presentation, etc. In general these sections might benefit from the occasional table, as well as diagrams to help break up the information; large blocks of text are difficult to read and maintain interest of the readers.&lt;br /&gt;
* Current research and developments section, compared to the rest of the project is not of the same standard; it could do with some well-placed research! Try to place some emphasis on this section as these areas outline whether we can hope for a cure in the future and give the reader some direction as to where the condition/disease is heading.&lt;br /&gt;
* Glossary is still incomplete; but this is obvious and something which (I'm sure) everyone needs to complete! The references are generally well used; see if you implement more in your research. &lt;br /&gt;
* Overall, a pleasing product; try for more images, but otherwise there is more than enough information required for the project. Try to distribute it over the sections and ensure the information presented under each subheading is relevant; you may want to also consider absorbing some sections and re-classifying them as sub-sections. &lt;br /&gt;
--[[User:Z3288827|Leonard Tiong]] 22:15, 28 September 2011 (EST)&lt;br /&gt;
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'''Group 9'''&lt;br /&gt;
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*The introduction is easy to read and brief. It has been referenced well.&lt;br /&gt;
*The history section however is difficult to read because there is so much information. Maybe including an image would help and formatting the timeline into a table as well.&lt;br /&gt;
*Maybe it would be a good idea to place epidemiology after history for the flow of the page&lt;br /&gt;
*And the sub-headings underneath epidemiology deserve its own heading such as treatment and management as it has nothing to do with epidemiology&lt;br /&gt;
*Phenotype of Williams Syndrome - nice piece of extra information however it is not referenced at all&lt;br /&gt;
*Nothing follows after other problems...&lt;br /&gt;
*Other Associated Medical Conditions - so much is dedicated to this section! maybe reduce the amount of info.&lt;br /&gt;
*Furthermore the glossary is incomplete&lt;br /&gt;
*However overall it is a good start. There were some good images used and the information was understandable&lt;br /&gt;
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--[[User:Z3330313|z3330313]] 00:57, 29 September 2011 (EST)&lt;br /&gt;
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'''Group 9'''&lt;br /&gt;
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'''*The key points relating to the topic that your group allocated are clearly described.'''&lt;br /&gt;
main points are there but may not be very well structured. Management and treatment are the same (even with repeated text) and i think it can be made into one section. It should also be on its own (big heading) and not under epidemiology. Also, epidemiology by itself is very limited. Treatment section is poorly structured with different sentences talking about different things.&lt;br /&gt;
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'''*The choice of content, headings and sub-headings, diagrams, tables, graphs show a good understanding of the topic area.'''&lt;br /&gt;
In Endocrine section, include information such as why individuals with william's symdrome is prone to such disorders. What does it relate to? Key information is there but perhaps not well structured.&lt;br /&gt;
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'''*Content is correctly cited and referenced.'''&lt;br /&gt;
Structural Differences in the Brain should have more references. Cognitive, Behavioural and Neurological Phenotype needs more references for that amount of text. where did you base File:House drawings Williams.jpg off?&lt;br /&gt;
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'''*The wiki has an element of teaching at a peer level using the student's own innovative diagrams, tables or figures and/or using interesting examples or explanations.'''&lt;br /&gt;
Image showing typical phenotype is good with adequate explanation.&lt;br /&gt;
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'''*Evidence of significant research relating to basic and applied sciences that goes beyond the formal teaching activities.'''&lt;br /&gt;
extensive use of research papers evident in the references but more in-text referencing would be good.&lt;br /&gt;
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'''*Relates the topic and content of the Wiki entry to learning aims of embryology.'''&lt;br /&gt;
Genitourinary Conditions could be related to embryological development as most of these conditions are traced back to fetal development.&lt;br /&gt;
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'''*Develops and edits the wiki entries in accordance with the above guidelines.'''&lt;br /&gt;
Mostly developed by the guidelines but some changes would be beneficial.&lt;br /&gt;
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--z3329495 21:25, 28 September 2011 (EST) &lt;br /&gt;
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'''Group 9: Peer assessment'''&lt;br /&gt;
* The introduction is good&lt;br /&gt;
* The history section is informative but may be could be kept a little shorter&lt;br /&gt;
* The start of the page is quite text heavy, may be you can brake it up with a picture&lt;br /&gt;
* Rearrange you page, so that you have the epidemiology section right after the history section&lt;br /&gt;
* Genetic and aetiology sections are well done&lt;br /&gt;
* There are no references in the Phenotype section&lt;br /&gt;
* May be the detail in the foundations is a little over the top. Why not put a simple link to their web side instead?&lt;br /&gt;
* The research section could be a little more detailed&lt;br /&gt;
* It would be good to put more of the terms used into your glossary&lt;br /&gt;
* Overall the page is interesting to read. A few more images would be nice. --z3279511 17:15, 28 September 2011 (EST)&lt;br /&gt;
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'''Group 9'''&lt;br /&gt;
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*You don’t have a very good image/text ratio. More images are needed to break up the text.&lt;br /&gt;
*Good information in your introduction although you need an image&lt;br /&gt;
*Maybe try and condense your history just into a timeline?&lt;br /&gt;
*Genetic factors and etiology and diagnosis are good and have a nice flow&lt;br /&gt;
*I think the section epidemiology should closer to the beginning of your project- also not sure why management and treatment are mentioned here.&lt;br /&gt;
*Phenotypes should be organised better&lt;br /&gt;
*Good table for associated medical conditions&lt;br /&gt;
*A few of your headings should be reformatted&lt;br /&gt;
*Specialised facilities and supportive associations seems a little unnecessary&lt;br /&gt;
*Glossary is incomplete&lt;br /&gt;
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'''Group 9'''&lt;br /&gt;
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*Introduction: contend is fine&lt;br /&gt;
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*History: could be a bit shortened, otherwise good&lt;br /&gt;
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*Genetic and Etiology: well done&lt;br /&gt;
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*Diagnosis: looks good&lt;br /&gt;
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*Epidemiology: treatment doesn’t belong there (own section?), the contend is good&lt;br /&gt;
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*Phenotype: references missing&lt;br /&gt;
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*Cardiac conditions: well done, but what’s with other conditions?&lt;br /&gt;
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*Genitourinary Conditions: the contend is good, but the structure could be clearer, a table for the grading system would be nice&lt;br /&gt;
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*Endocrine: missing references, otherwise good section&lt;br /&gt;
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*Other associated conditions: looks fine&lt;br /&gt;
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*Cognitive, behavioural Phenotype: references missing?&lt;br /&gt;
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*Structural diff. in the brain: is there really only one resource? Lack of structure and subheadings&lt;br /&gt;
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*Special Facilities: I don’t think it is necessary to list the addresses of the foundations, and write down all their aims. The online link is enough.&lt;br /&gt;
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*Research: could have more detailed information&lt;br /&gt;
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*Glossary: incomplete&lt;br /&gt;
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*The phenotype sections should be put together&lt;br /&gt;
--[[User:Z3387190|Z3387190]] 23:20, 27 September 2011 (EST)&lt;br /&gt;
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===Comments on Group Project 9===&lt;br /&gt;
'''Strengths:'''&lt;br /&gt;
*Good use of subheadings. It gives the page a structured feel to it.&lt;br /&gt;
*For most part of the references, it is good with the initiative to prevent duplication of references.&lt;br /&gt;
* I really like the “Specialised Facilities and Supportive Associations” section. Parents who just found out about their child’s condition would probably want to know more and seek help and this would be good for them.&lt;br /&gt;
'''Weaknesses:'''&lt;br /&gt;
*The history section looks really overwhelming. &lt;br /&gt;
*The glossary section is poorly done, with missing definitions for some words. There are other words that should be included in the glossary but was not.&lt;br /&gt;
*The image of the typical facial feature of an individual with WS looks similar to the one shown during lecture by Dr Palmer. It would be good to acknowledge what the image drawn was based on.&lt;br /&gt;
'''Specific corrections:'''&lt;br /&gt;
*It will be good to include an image in either the introduction or history section. At least it will be able to grab some attention.&lt;br /&gt;
*Reference 23 is missing its source.&lt;br /&gt;
*It will be good to elaborate more on some of the research studies being done to give the readers a feel of the direction in which the research for Williams Syn is gearing towards.&lt;br /&gt;
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--Z3389806 06:45, 27 September 2011 (EST)&lt;br /&gt;
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Group 9: Williams Syndrome&lt;br /&gt;
*First few sections are lacking in images to draw readers attention. &lt;br /&gt;
*Intro: brief but still provides a good overview to the webpage.&lt;br /&gt;
*History: Timeline is a great addition, but maybe consider a table format just to clean up the text a little bit.&lt;br /&gt;
*Genetic factors: Good use of image and table. Also well referenced.&lt;br /&gt;
*Epidemiology: I think this section would benefit from a few paragraphs of information rather than just bullet points.&lt;br /&gt;
*Current research: needs more information here about the research itself, not just the foundations &lt;br /&gt;
*Specialised facilities and supportive associations: is a nice touch the webpage&lt;br /&gt;
*Glossary: could be expanded upon and is incomplete.&lt;br /&gt;
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--[[User:Z3332327|z3332327]] 01:36, 29 September 2011 (EST)&lt;br /&gt;
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'''Group 9 Peer Assessment'''&lt;br /&gt;
*Introduction has clear explanation of the topic though image would liven the section up&lt;br /&gt;
*History is very informative though have no images, image of the founder would suit this area. While the time line done properly and looks good but bullet points would make look better&lt;br /&gt;
*Genetic factors should incorporate the image used “fig 2”, although the use of the table is well made explaining the cases of genetic transmission.&lt;br /&gt;
*Diagnosis introduction done well though image “fig 3” not mentioned in the text which should also be integrated into the text.&lt;br /&gt;
*Epidemiology should be first before the diagnosis and treatment would be better as its own heading and below near the end.&lt;br /&gt;
*Headings needs to be more organised and some more images which are linked to the text otherwise very bulky with text&lt;br /&gt;
*Current research/ future research done well and separated with sub headings&lt;br /&gt;
*Glossary need to be expanded as most terms not understood without a dictionary&lt;br /&gt;
*Reference 23 and 2 needs to be fixed otherwise all done well&lt;br /&gt;
z3332250 23:57, 26 September 2011 (EST)&lt;br /&gt;
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'''Group 9 Critique'''&lt;br /&gt;
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#•	Introduction is ok. Maybe add a picture or two to make the introduction look a little bit more interesting&lt;br /&gt;
#•	History is pretty good. Nice work on the timeline!&lt;br /&gt;
#•	The table in the section on genetic factors is appropriate. Good job!&lt;br /&gt;
#•	Diagnosis is good&lt;br /&gt;
#•	Epidemiology should be after introduction, not diagnosis, but otherwise ok&lt;br /&gt;
#•	The overall project is quite good, however diagnosis should be at the end and not one of the first sections&lt;br /&gt;
#•	Also, is it necessary to put in information about support groups? Something to think about&lt;br /&gt;
#•	Glossary is unfinished&lt;br /&gt;
#•	The current research and developments section should have more information in it. Two lines of information is not enough detail&lt;br /&gt;
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--[[User:Z3289991|Robert Klein]] 16:16, 26 September 2011 (EST)&lt;br /&gt;
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Peer Assessment Group 9 '''Williams-Beuren Syndrome'''&lt;br /&gt;
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*The introduction could use a simple image of the chromosome 7q11.23 just to make the introduction look a bit more interesting&lt;br /&gt;
*History is too detailed and in a few instances a repetition of the timeline&lt;br /&gt;
*An image in the timeline section will make it a bit more interesting&lt;br /&gt;
*The section 'Genetic factors and Etiology' is a great balance of image, table and text. Interesting information presented simply and clearly&lt;br /&gt;
*Interesting image of the deleted gene location&lt;br /&gt;
*Under Epidemiology you could also talk about prevalence of the condition in certain regions of the world etc. It looks like a one sentence section. &lt;br /&gt;
*The management section looks like it is part of epidemiology. You might want to reformat this to make it look like it is a topic by itself.&lt;br /&gt;
* Too many one sentence paragraphs under 'Treatment'. It might be a good idea to organise the thoughts and bunch them into small paragraphs. Half a line in a paragraph doesn't look great, surely these single lines can relate to another paragraph. &lt;br /&gt;
*The heading 'other problems' don't sound descriptive enough, you might want to call it, 'Associated Abnormalities'.&lt;br /&gt;
*Please add 'Genitourinary Conditions' in addition to a heap of other unexplained terms in the glossary&lt;br /&gt;
*I like the addition of Figure 6. It is an interesting observation.&lt;br /&gt;
*The addition of support groups in Australia and other places is a useful section.&lt;br /&gt;
*Overall the page has been well researched, just find a balance between texts, images and tables and it will be an informative page to refer back to.&lt;br /&gt;
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'''Williams-Beuren Syndrome'''&lt;br /&gt;
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*'Introduction' is good, but need an image to open up the page&lt;br /&gt;
*Can you try to compile all that text in 'History' into the timeline?  Otherwise it's a bit much and a bit repetitive; an image couldn't hurt either&lt;br /&gt;
*Good work with 'Genetics', easy to read and interesting&lt;br /&gt;
*Diagnosis might fit better below the signs and symptoms, ie after we know enough about the syndrome to fully appreciate the diagnosis&lt;br /&gt;
*'Treatment' doesn't really fit in 'Epidemiology', again this would be better towards the end of the page&lt;br /&gt;
*Nice table for 'Phenotype of Williams Syndrome', very clear and informative&lt;br /&gt;
*Your subtitles are a little confusing, you might want to try incorporating all the condions ie cardiac and genitinary into one section&lt;br /&gt;
*Though the information within these sections is very good&lt;br /&gt;
*You seem to be missing a ''lot'' of images, it's difficult to read when it's just blocks of text&lt;br /&gt;
*For 'Cognitive, Behavioural and Neurological Phenotype' you need more references.  You should back up what your saying with at least 2 references; though there seems to be a lot of interesting information here&lt;br /&gt;
*'Structural Differences in Brain' - only 1 reference for all that information? That doesn't seem very reliable&lt;br /&gt;
*I like the topic 'Specialised Facilities and Supportive Associations', really interesting choice. Very good&lt;br /&gt;
*For 'Current Research', instead of just an article reference, make a brief summary of the paper and describe why it is significant?  Otherwise this section is a bit pointless.&lt;br /&gt;
*The glossary can't hurt to be expanded..... and finished.&lt;br /&gt;
*Overall, the page looks good, clearly a lot of research has gone into it.  Just focus on making it more visually appealing, and work on those references&lt;br /&gt;
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Group 9- &lt;br /&gt;
* Glossary is incomplete&lt;br /&gt;
* There are very few images on the page to break up the text&lt;br /&gt;
* Introduction needs an image. Other than that the information is good&lt;br /&gt;
* History- not sure if you need the text AND the list of dates. Maybe you could combine it all into one&lt;br /&gt;
* Genetic factors and etiology- really good. Easy to understand and visually appealing&lt;br /&gt;
* Diagnosis is also easy to take in&lt;br /&gt;
* Epidemiology should be up the top before diagnosis&lt;br /&gt;
* Also you need to sort out your subheadings. Management and treatment are not part of epidemiology&lt;br /&gt;
* More information is needed on the actually epidemiology&lt;br /&gt;
* Phenotype should come before treatment so we know why the treatments are necessary &lt;br /&gt;
* Also- cardiac, endocrine and genitourinary conditions are part of the phenotype. Maybe consider including these in the table&lt;br /&gt;
* The whole phenotype section is confusing sorry. It is ALL phenotype but you have put it in different sections. Not really sure why you have done this. It needs to be formatted better.&lt;br /&gt;
* The information is all there it just isn’t organised properly&lt;br /&gt;
* Do you need this? ‘Specialised Facilities and Supportive Associations&lt;br /&gt;
* You have done a great job of researching and the information is all there its just really confusing sorry. You need to find a way of organizing it so that it is more accessible to the reader.&lt;br /&gt;
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'''Group 9'''&lt;br /&gt;
* The structure and use of headings and subheadings is good but i think you need to rethink the order of your headings eg epidemiology should be closer to the beginning. &lt;br /&gt;
* Intro informative. maybe you could bullet point the phenotypic characteristics, just make it easier to read. could you add a picture in this section?&lt;br /&gt;
* Nice history, could you maybe put your timeline into a table.&lt;br /&gt;
* good use of the table in genetics and aetiology and nice to see the accompanying picture referenced. &lt;br /&gt;
* I feel treatment should be its own heading and not a subheading.&lt;br /&gt;
* Phenotype of Williams Syndrome- a nice easy to read section breaking up the text. Could you add anymore pictures here?&lt;br /&gt;
* Genitourinary Conditions is very text heavy could you add in some pictures here or tabulate some of the information, just to keep the page flowing nicely. &lt;br /&gt;
* The endocrine section should be renamed, as it does not really explain to the reader what your going to talk about. &lt;br /&gt;
* Other Associated Medical Conditions- is a nice section good use of the table. &lt;br /&gt;
* Cognitive, Behavioural and Neurological Phenotype section is very text heavy it needs to be broken up either by pictures or a table. but it seems like a lot of effort has been put into the research in this section.&lt;br /&gt;
* Im not sure whether this section is necessary for our assessment Specialised Facilities and Supportive Associations??&lt;br /&gt;
* Current research and developments should be above the preceding section and a summary of the information would be nice instead of dot points.&lt;br /&gt;
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'''Group 9 Assessment'''&lt;br /&gt;
*Great job of linking the same resource to the same reference number in the reference section!&lt;br /&gt;
*The introduction and history are very thorough, but what’s missing are pictures to help it look more appealing.  &lt;br /&gt;
*The timeline- the information it good, but it might look better in a table format.  &lt;br /&gt;
*The genetic factors chart is good, but the last row doesn’t have any referencing… &lt;br /&gt;
*The diagnosis section definitely needs more referencing for all of the information. &lt;br /&gt;
*Epidemiology- This section could also really use some pictures to add to the section. &lt;br /&gt;
*The phenotype chart also needs all of the information referenced…  It might also be helpful to have more pictures, at least one for each subgroup within the chart. &lt;br /&gt;
*The Genitourinary Conditions section is rather wordy… Pictures could definitely be helpful here as well as more bullet lists or possibly another chart to simplify the info.&lt;br /&gt;
*The complete list of problems and associated medical conditions is rather lengthy… It might be a good idea to simplify all of this information as much as possible and simply compile it ALL together into one chart….&lt;br /&gt;
 *The whole “Cognitive, Behavioral and Neurological Phenotype” as well as the “Structural Differences in the Brain” sections definitely need more referencing.  &lt;br /&gt;
*Are support groups really necessary to be included for this project?  &lt;br /&gt;
*Current research could also a picture or two.  &lt;br /&gt;
*Not all the words are defined in the glossary, and it might look better if a bullet list were used here.  Also, it would be nice to have the glossary words linked to the actual words in the wiki page for easy reference.&lt;br /&gt;
*Overall, not bad.  Just work on fixing the overall flow and referencing and you will be fine! &lt;br /&gt;
--[[User:Z3391078|Z3391078]] 16:35, 27 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
'''Peer Assessment: Group Project 9'''&lt;br /&gt;
*The introduction and history of the disease are informative and it is good to have both the detailed historical information in addition to the timeline.&lt;br /&gt;
*It might be good to have an image at the beginning of the page to break up the text, such as of someone prominently involved with the disease findings (John C.P. Williams or Alois J Beuren).&lt;br /&gt;
*The diagnostic section only has one reference which detracts from the reliability of the section and makes the reader wonder where the information was sourced from. It is also good to place it in as if the reader desires to know more about the subject, they are able to look at where certain parts came from.&lt;br /&gt;
*The phenotype section is really clear and well formatted, however there are no references in this section.&lt;br /&gt;
*In general there needs to be more images/figures/graphs to help the ease of reading. For example in sections: Genitourinary Conditions, Other Associated Medical Conditions and Cognitive, Behavioural and Neurological Phenotype.&lt;br /&gt;
*The section on specialised facilities and supportive associations is an additional section that really adds to the page.&lt;br /&gt;
*There needs to be a picture drawn by a student.&lt;br /&gt;
*Some of the definitions of words in the glossary need to be completed.&lt;br /&gt;
--[[User:Z3217345|z3217345]] 10:16, 28 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
*'''Intro''': More info about the syndrome itself needed. Add a picture if you can? The text alone is a bit dry.&lt;br /&gt;
*'''History''': ... 1952 is really not early. I'd call it a rather new syndrome if that's when it was discovered..? Otherwise, lots of info and references, which is good.&lt;br /&gt;
*'''Genetic factors and Etiology''': Looks good.&lt;br /&gt;
*'''Diagnosis''': Seems fine.&lt;br /&gt;
*'''Epidemiology''': Not sure it makes sense to have management and treatment under epidemiology? Content seems fine, though is very text-heavy, maybe find a figure to break it up?&lt;br /&gt;
*'''Phenotype''': I like the table. Gives an easy overview.&lt;br /&gt;
*'''Cardiac Conditions''': Good content. I assume the &amp;quot;other problems&amp;quot; section is still under construction?&lt;br /&gt;
*'''Genitourinary Conditions''': Content seems fine, but it's very text heavy, this really needs to be broken up somehow. Possibly use a table, or include more figures.&lt;br /&gt;
*'''Endocrine''': Endocrine what? Conditions? That title is a bit odd. Otherwise, looks good. How come the thyroid section doesn't have a reference?&lt;br /&gt;
*'''Other Associated Medical Conditions''': Good content, I like the table.&lt;br /&gt;
*'''Cognitive, Behavioural and Neurological Phenotype''': Very impressive amount of (really interesting) information, which however currently mainly consists of text. Some more figures will help break that down a bit. (Watch out with the spatial cognition part - the title is spelled correctly, but within the text it's all &amp;quot;spacial&amp;quot;.) Otherwise, very well done!&lt;br /&gt;
*'''Structural Differences in the Brain''': Not quite sure it makes sense to have this section here - put it before the cognitive phenotype section, instead after? Content is very good.&lt;br /&gt;
*'''Specialised Facilities and Supportive Associations''': Interesting idea. Not quite sure it's needed cause I think we're supposed to focus on the science, but at the same time I don't see why not include it. Though your formatting makes it a very long section - I'd keep it more brief.&lt;br /&gt;
*'''Current research and developments''': A little bit too brief. You could expand a little bit more on what is being done. The links are good, but maybe give a few more examples of recent papers and reviews.&lt;br /&gt;
*'''Glossary''': Poor. MANY more terms need explanations.&lt;br /&gt;
*'''References''': Looks fine in general, though the link might need fixing, and also one reference leads to emptiness?&lt;br /&gt;
*General: From the conditions sections onwards I'm not quite sure the sections and different titles you have chosen make sense, it seems a bit confusing. Maybe rethink that and try and come up with a more clear structure? Also, you need to make your structuring and how you split up a section into subsections more uniform.&lt;br /&gt;
Overall though, you cover an impressive spectrum of information. Well done!&lt;br /&gt;
&lt;br /&gt;
'''Peer Review'''&lt;br /&gt;
&lt;br /&gt;
* interesting &lt;br /&gt;
* a lot of information has been put into it but relevant and not repetive&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3060621|z3060621]] 21:53, 28 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
==Discussion==&lt;br /&gt;
&lt;br /&gt;
hahaha everyone is commenting on the lack of images. yes guys, we know but there are little to no copyright free images out there.&lt;br /&gt;
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--[[User:Z3331469|z3331469]] 14:36, 27 September 2011 (EST)&lt;br /&gt;
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Hey, i've got no problem with that, i think it's a fair idea&lt;br /&gt;
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--[[User:Z3331469|z3331469]] 19:06, 18 September 2011 (EST)&lt;br /&gt;
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Hey guys ive been thinking that epidemiology isn't really in the right spot.... management and treatment should really go after all the descriptions of the abnormalities and incidence shoukd go at the beginning... so what i'm thinking is that we should split up the subheading and add incidence to the intro and have management and treatment as one heading towards the end...??? what do u guys suggest?&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3331556|z3331556]] 23:20, 17 September 2011 (EST)&lt;br /&gt;
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Hey guys i found this really good article that deals with embryology in WS!! but i don't know where the info fits in...can u please have a quick glance over it and see where you think some of the info can go??? i just don't wanna mess up your parts by adding random info...&lt;br /&gt;
&lt;br /&gt;
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2629217/?tool=pubmed&lt;br /&gt;
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--[[User:Z3331556|z3331556]] 17:36, 14 September 2011 (EST)&lt;br /&gt;
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Yay!!! Yeah thats fine...were just gonna fix our ones up...coz we have another assignment to do tonight...so you n nobby can edit all u want tonight! Ohh and yeah sure...just post up the info you have for the timeline n then ill put it into a table!!&lt;br /&gt;
&lt;br /&gt;
Hey, yeh no worries, im going to be working on it for the rest of the day now that my exams are over....i ll try get as much of it done ASAP. Oh and after i finish typing up the timeline, would one of u guys format it in a table for me??? i seriously tried to do it but I got a bit confused lol&lt;br /&gt;
Oh btw great job on the drawings!!! :)&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3331556|z3331556]] 13:54, 14 September 2011 (EST)&lt;br /&gt;
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Hey sister 1 can you work on cardiac? I'll do other associated instead of sister 3.&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3332178|Z3332178]] 10:42, 14 September 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
and also, i just came across this page which is on the unsw embryo page....&lt;br /&gt;
http://embryology.med.unsw.edu.au/embryology/index.php?title=Talk:Williams_Syndrome#Australia_-_Support_Groups&lt;br /&gt;
&lt;br /&gt;
it lists some recent papers and current research, including one of steve palmer's papers.&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3331469|z3331469]] 08:31, 14 September 2011 (EST)&lt;br /&gt;
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hey guys, yes moving epidemiology up is a great idea!!!!&lt;br /&gt;
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--[[User:Z3331469|z3331469]] 07:25, 14 September 2011 (EST)&lt;br /&gt;
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1288273/ '''article for the visuospatial construction i.e. not able to draw house, bicycle etc, think this can be for our case studies...'''&lt;br /&gt;
&lt;br /&gt;
yes i think that's a good idea, i was just about to mention that, shall i move it?? I fixed up a bit of the intro, is it ok? Btw I sware i thought i was on another page when i hit save cause all these tables and images came up, then i realised it was laticia and felicia's AWSOME WORK :), it looks really good!!! just thought i should mention that... I've spent hours trying to find images and most of the articles i've found have really good ones but we cant use them!! ahhh it's soo frustrating&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3331556|z3331556]] 23:58, 11 September 2011 (EST)&lt;br /&gt;
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Also, in Marks feedback he said that epidemology should be linked earlier to diagnosis, so shall we just move it up and have it straight after diagnosis before the physical characteristics?&lt;br /&gt;
--[[User:Z3332183|z3332183]] 23:14, 11 September 2011 (EST)&lt;br /&gt;
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3129970/?tool=pubmed Hey guys...heres another open access article that we can use pics from!!!&lt;br /&gt;
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--[[User:Z3332183|z3332183]] 22:48, 11 September 2011 (EST)&lt;br /&gt;
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i think we can all use this article http://www.ncbi.nlm.nih.gov/books/NBK1249/ --[[User:Z3331556|z3331556]] 22:06, 11 September 2011 (EST)&lt;br /&gt;
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http://www.nejm.org.wwwproxy0.library.unsw.edu.au/doi/full/10.1056/NEJMra0903074#t=article '''pretty good recent article :) but i don't know if we can use the pics, can someone double check...'''&lt;br /&gt;
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--[[User:Z3331556|z3331556]] 21:46, 11 September 2011 (EST)&lt;br /&gt;
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[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1511580/?tool=pubmed] Clinical and molecular cytogenetic (FISH) diagnosis of Williams syndrome.&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3332183|z3332183]] 13:34, 7 September 2011 (EST)&lt;br /&gt;
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Hey guys found this AWESOME article we can get pics off =D Leftward Lateralization of Auditory Cortex Underlies Holistic Sound Perception in Williams Syndrome PMID: 20808792 (forgot how to ref so this'll do for now)&lt;br /&gt;
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--[[User:Z3332178|z3332178]] 22:51, 8 September 2011 (EST)&lt;br /&gt;
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Hey! Yeah it think its better if they just go under the same heading because they go together and its impossible to separate them anyway...so yeah 'Genetic Factors and Etiology' should be fine...and we can add in any subheadings if we need em later... :D&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3332183|z3332183]] 19:54, 3 September 2011 (EST)&lt;br /&gt;
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Hey guys i just changed the etiology, genetic factors/ cause headings, before we had genetic factors and etiology as separate headings with cause as a subheading below genetic factors and it didn't really make sense... so is it ok if we just have the heading 'Genetic Factors and Etiology'???&lt;br /&gt;
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--[[User:Z3331556|z3331556]] 15:44, 3 September 2011 (EST) &lt;br /&gt;
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Hey guys i just emailed Dr. Steve Palmer, will hope for a quick reply. Apparently he's taking the next lecture or something when we get back, but by then it will be too late, so it's best if we can arrange a meeting. Who wants to come with me to see him..........................................................................................=/&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3331469|z3331469]] 17:16, 1 September 2011 (EST)&lt;br /&gt;
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Here's an article for diagnosis and management of the disease&lt;br /&gt;
&lt;br /&gt;
[http://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.30139/abstract;jsessionid=E69D4793044A7511E77F50CA141F0825.d02t04?systemMessage=Wiley+Online+Library+will+be+disrupted+3+Sep+from+10-12+BST+for+monthly+maintenance]&lt;br /&gt;
&lt;br /&gt;
Hey that's heaps good, we'll compare timetables tomorrow during the lab or something, this page is coming alongggggggggggg!&lt;br /&gt;
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--[[User:Z3331469|z3331469]] 16:00, 31 August 2011 (EST)&lt;br /&gt;
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Happy sister 1, you are awesome! I'll do Coronary artery stenosis, Pulmonary valve stenosis, Atrial septal defect, Ventricular septal defect if you didnt already start on any... I'm doin my williams research now so hopefully, i'll have my bit up tonight! *crosses fingers* I'm so sick of readin articles... =P Is there a time we can all go meet up with the WS proff?&lt;br /&gt;
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--[[User:Z3332178|Z3332178]] 20:37, 30 August 2011 (EST)&lt;br /&gt;
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Hey i found out who the researcher of WS at uni is, it's Dr Steve Palmer, here's his email s.palmer@unsw.edu.au, on the course outline it says that we have to make an appointment if we want to see him. We should try get together sometime this week or next week so we can go see him and ask about his current research???&lt;br /&gt;
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--[[User:Z3331556|z3331556]] 18:51, 27 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
So i finally figured out how to reference on this thing, thought you guys might need help.... if you look on the main project page I've started to put some info up, so if you click on the edit button (on the side of each heading) the info and references come up, just copy and paste the ref name....blah blah part after your info BUT REPLACE THE PMID NUMBER WITH THE ONE YOU NEED FOR YOUR ARTICLE. When u save, the reference is automatically made in the reference heading at the bottom of the pages&lt;br /&gt;
&lt;br /&gt;
Hope this makes sense lol&lt;br /&gt;
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--[[User:Z3331556|z3331556]] 17:17, 27 August 2011 (EST) &lt;br /&gt;
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Hey guys i've posted up some links to articles that may help in your research, they're on the reference list below. Oh and Felicia i think we should further split up the cardiovascular heading so we can research specific types and make them subheadings??? The OMIM clinical synopsis web page [http://omim.org/clinicalSynopsis/194050] has these as abnormalities associated with the heart:&lt;br /&gt;
&lt;br /&gt;
Supravalvular aortic stenosis&lt;br /&gt;
&lt;br /&gt;
Valvular aortic stenosis&lt;br /&gt;
&lt;br /&gt;
Bicuspid aortic valve&lt;br /&gt;
&lt;br /&gt;
Mitral valve prolapse&lt;br /&gt;
&lt;br /&gt;
Mitral regurgitation&lt;br /&gt;
&lt;br /&gt;
Coronary artery stenosis&lt;br /&gt;
&lt;br /&gt;
Pulmonary valve stenosis&lt;br /&gt;
&lt;br /&gt;
Atrial septal defect&lt;br /&gt;
&lt;br /&gt;
Ventricular septal defect&lt;br /&gt;
&lt;br /&gt;
which ones do you want to search???&lt;br /&gt;
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--[[User:Z3331556|z3331556]] 15:22, 27 August 2011 (EST)&lt;br /&gt;
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“The behavioral phenotype of Williams syndrome: A recognizable pattern of neurodevelopment” by Colleen A. Morris&lt;br /&gt;
The review article concludes that a person with William syndrome share distinct cognitive and behavioural features. The phenotype of a typical patient will be due to the deleted genes of chromosome 7 q11.23.[http://onlinelibrary.wiley.com.wwwproxy0.library.unsw.edu.au/doi/10.1002/ajmg.c.30286/full]&lt;br /&gt;
&lt;br /&gt;
“Impaired geometric reorientation caused by genetic defect” by Laura Lakusta, Banchiamlack Dessalegn, and Barbara Landau&lt;br /&gt;
By testing participants in a plain or single blue walled chamber, the study was able to show that William syndrome patients show a failure to reconstruct and use geometric representations of the chamber o find hidden objecs.[http://www.ncbi.nlm.nih.gov.wwwproxy0.library.unsw.edu.au/pmc/articles/PMC2840366/?tool=pmcentrez]&lt;br /&gt;
--z3332178 22:42, 9 August 2011 (EST)&lt;br /&gt;
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http://omim.org/entry/194050&lt;br /&gt;
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Review Article: Research Review: Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype. [http://www.ncbi.nlm.nih.gov/pubmed/18489677]&lt;br /&gt;
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Research Article: Elevated Ambulatory Blood Pressure in 20 Subjects With Williams Syndrome[http://userwww.service.emory.edu/~erein/research/broder-et-al.pdf]&lt;br /&gt;
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--[[User:Z3331469|z3331469]] 21:35, 10 August 2011 (EST)&lt;br /&gt;
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--[[User:Z3331469|z3331469]] 13:19, 4 August 2011 (EST)&lt;br /&gt;
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The genomic basis of the Williams - Beuren syndrome&lt;br /&gt;
C Schubert. Cellular and Molecular Life Sciences. Basel: Apr 2009. Vol. 66, Iss. 7; p. 1178&lt;br /&gt;
[http://proquest.umi.com/pqdweb?index=0&amp;amp;did=1892633801&amp;amp;SrchMode=1&amp;amp;sid=2&amp;amp;Fmt=6&amp;amp;VInst=PROD&amp;amp;VType=PQD&amp;amp;RQT=309&amp;amp;VName=PQD&amp;amp;TS=1312428336&amp;amp;clientId=25620]&lt;br /&gt;
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--[[User:Z3332183|Z3332183]] 13:28, 4 August 2011 (EST)&lt;br /&gt;
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J Hum Genet. 2009 Apr;54(4):193-8. Epub 2009 Mar 13.&lt;br /&gt;
William's syndrome: gene expression is related to parental origin and regional coordinate control.&lt;br /&gt;
Collette JC, Chen XN, Mills DL, Galaburda AM, Reiss AL, Bellugi U, Korenberg JR.&lt;br /&gt;
Source&lt;br /&gt;
&lt;br /&gt;
Division of Neurogenetics, Cedars-Sinai Medical Center and Departments of Human Genetics and Pediatrics, UCLA, Los Angeles, CA, USA.&lt;br /&gt;
&lt;br /&gt;
'''Abstract'''&lt;br /&gt;
&lt;br /&gt;
William's syndrome (WS) features a spectrum of neurocognitive and behavioral abnormalities due to a rare 1.5 MB deletion that includes about 24-28 genes on chromosome band 7q11.23. Study of the expression of these genes from the single normal copy provides an opportunity to elucidate the genetic and epigenetic controls on these genes as well as their roles in both WS and normal brain development and function. We used quantitative RT-PCR to determine the transcriptional level of 14 WS gene markers in a cohort of 77 persons with WS and 48 normal controls. Results reported here: (1) show that the expression of the genes deleted in WS is decreased in some but not all cases, (2) demonstrate that the parental origin of the deletion contributes to the level of expression of GTF2I independently of age and gender and (3) indicate that the correlation of expression between GTF2I and some other genes in the WS region differs in WS subjects and normal controls, which in turn points toward a regulatory role for this gene. Interspecies comparisons suggest GTF2I may play a key role in normal brain development.&lt;br /&gt;
&lt;br /&gt;
PMID:19282872[http://www.ncbi.nlm.nih.gov/pubmed/19282872]  '''hey guys this is one of the articles i found but i've tried getting the whole article to read but sirius doesn't seem to have this particular volume '''&lt;br /&gt;
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--[[User:Z3331556|z3331556]] 18:09, 6 August 2011 (EST)&lt;br /&gt;
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''Review Article:The genomic basis of the Williams – Beuren syndrome''&lt;br /&gt;
•Williams syndrome is a genomic disorder with symptoms including mental retardation, visuospatial impairment &amp;amp; overfriendliness.&lt;br /&gt;
&lt;br /&gt;
•It is caused due to a hemizygous contiguous gene deletion with regards to chromosome  7q11.23. &lt;br /&gt;
&lt;br /&gt;
•This review article deals with the genomic assembly of the region involved in Williams syndrome as well as the chromosomal mechanisms such as deletions and duplications and the consequences of these.&lt;br /&gt;
&lt;br /&gt;
Reference:&lt;br /&gt;
Schubert, C. The genomic basis of the Williams – Beuren syndrome. Cell, Mol. Life Sci. 66:1178-1197, 2009 [http://www.springerlink.com.wwwproxy0.library.unsw.edu.au/content/r41l072283g5222u/fulltext.pdf]&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
''Research Article: Functional, structural and metabolic abnormalities of the hippocampl formation in Williams syndrome''&lt;br /&gt;
•In this study, neuroimaging (PET and fMRI) was used to investigate the hippocampal structure, function and metabolic integrity of 12 people with Williams syndrome compared to 12 healthy controls.&lt;br /&gt;
&lt;br /&gt;
•N-acetul aspartate can be seen as a marker for synaptic activity and measures of this were reduced in those with Williams syndrome&lt;br /&gt;
&lt;br /&gt;
•Although regular hippocampal size was maintained in both groups, slight changes in the shape were present.&lt;br /&gt;
&lt;br /&gt;
•Through the results of the investigation, it was suggested that the neurocognitive abnormalities seen in Williams syndrome may be partly due to hippocampal dysfunction.&lt;br /&gt;
&lt;br /&gt;
Reference: &lt;br /&gt;
Meyer-Lindenberg A., et al. Functional, structural and metabolic abnormalities of the hippocampal formation in Williams syndrome. J Clin Invest. 115(7):1888-95, 2005 [http://www.ncbi.nlm.nih.gov.wwwproxy0.library.unsw.edu.au/pubmed/15951840/]&lt;br /&gt;
&lt;br /&gt;
--[[User:Z3332183|z3332183]] 23:02, 9 August 2011 (EST)&lt;br /&gt;
&lt;br /&gt;
'''ARTICLE'''&lt;br /&gt;
&lt;br /&gt;
PLoS One. 2010 Apr 21;5(4):e10292.&lt;br /&gt;
Intelligence in Williams Syndrome is related to STX1A, which encodes a component of the presynaptic SNARE complex.&lt;br /&gt;
Gao MC, Bellugi U, Dai L, Mills DL, Sobel EM, Lange K, Korenberg JR.&lt;br /&gt;
Source&lt;br /&gt;
&lt;br /&gt;
Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, California, United States of America.&lt;br /&gt;
&lt;br /&gt;
'''Abstract'''&lt;br /&gt;
Although genetics is the most significant known determinant of human intelligence, specific gene contributions remain largely unknown. To accelerate understanding in this area, we have taken a new approach by studying the relationship between quantitative gene expression and intelligence in a cohort of 65 patients with Williams Syndrome (WS), a neurodevelopmental disorder caused by a 1.5 Mb deletion on chromosome 7q11.23. We find that variation in the transcript levels of the brain gene STX1A correlates significantly with intelligence in WS patients measured by principal component analysis (PCA) of standardized WAIS-R subtests, r = 0.40 (Pearson correlation, Bonferroni corrected p-value = 0.007), accounting for 15.6% of the cognitive variation. These results suggest that syntaxin 1A, a neuronal regulator of presynaptic vesicle release, may play a role in WS and be a component of the cellular pathway determining human intelligence.&lt;br /&gt;
&lt;br /&gt;
PMID:20422020 [http://www.ncbi.nlm.nih.gov/pubmed/20422020]&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
* Williams Syndrome presents with a distinct pattern of intellectual disabilities that differ from normal on subtests of the WAIS-R (Wechsler Adult Intelligence Scale-Revised). Found that relative to their overall performance, WS subjects tended to do well in tests of vocabulary (Vocabulary) and abstract reasoning (Similarities, Picture Arrangement), and poorly in tests of numeracy (Arithmetic), visual-spatial (Digit Symbol, Block Design, Object Assembly), and memory (Digit Span)&lt;br /&gt;
&lt;br /&gt;
* Gene expression in the tissue of interest (brain) is not possible so quantitated gene expression in lymphoblastoid (LB) cell lines&lt;br /&gt;
&lt;br /&gt;
* STX1A is best known as an important component of the presynaptic SNARE complex involved in priming of synaptic vesicles for release.&lt;br /&gt;
&lt;br /&gt;
* Data indicate that peripheral STX1A expression levels measured in lymphoblastoid cell lines strictly grown, is related to an emergent property of the CNS, intelligence.&lt;br /&gt;
&lt;br /&gt;
'''here's the actual article''' [http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0010292]&lt;br /&gt;
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&lt;br /&gt;
'''REVIEW ARTICLE'''&lt;br /&gt;
&lt;br /&gt;
Arch Pediatr. 2009 Mar;16(3):273-82. Epub 2008 Dec 18.&lt;br /&gt;
[Williams-Beuren syndrome: a multidisciplinary approach].&lt;br /&gt;
[Article in French]&lt;br /&gt;
Lacroix A, Pezet M, Capel A, Bonnet D, Hennequin M, Jacob MP, Bricca G, Couet D, Faury G, Bernicot J, Gilbert-Dussardier B.&lt;br /&gt;
Source&lt;br /&gt;
&lt;br /&gt;
Laboratoire langage, mémoire et développement cognitif, CNRS, UMR 6215, 99, avenue du Recteur-Pineau, 86000 Poitiers, France. agnes.lacroix@uhb.fr&lt;br /&gt;
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'''Abstract'''&lt;br /&gt;
Williams-Beuren syndrome (WBS) (OMIM# 194050) is a rare, most often sporadic, genetic disease caused by a chromosomal microdeletion at locus 7q11.23 involving 28 genes. Among these, the elastin gene codes for the essential component of the arterial extracellular matrix. Developmental disorders usually associate an atypical face, cardiovascular malformations (most often supravalvular aortic stenosis and/or pulmonary artery stenosis) and a unique neuropsychological profile. This profile is defined by moderate mental retardation, relatively well-preserved language skills, visuospatial deficits and hypersociability. Other less known or rarer features, such as neonatal hypercalcemia, nutrition problems in infancy, ophthalmological anomalies, hypothyroidism, growth retardation, joint disturbances, dental anomalies and hypertension arising in adolescence or adulthood, should be treated. The aim of this paper is to summarize the major points of WBS regarding: (i) the different genes involved in the deletion and their function, especially the elastin gene and recent reports of rare forms of partial WBS or of an opposite syndrome stemming from a microduplication of the 7q11.23 locus, (ii) the clinical features in children and adults with a focus on cardiovascular injury, and (iii) the specific neuropsychological profile of people with WBS through its characteristics, the brain structures involved, and learning.&lt;br /&gt;
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PMID:19097873 [http://www.ncbi.nlm.nih.gov/pubmed/19097873]&lt;br /&gt;
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--[[User:Z3331556|z3331556]] 19:40, 10 August 2011 (EST)&lt;br /&gt;
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'''Here's  the image i showed you guys'''&lt;br /&gt;
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[[File:Distribution of quantitative transcription of genes deleted in WS.png|Distribution of quantitative transcription of genes deleted in WS]]&lt;br /&gt;
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--[[User:Z3331556|z3331556]] 12:23, 12 August 2011 (EST)&lt;br /&gt;
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[[File:Auditory Cortex Location - Comparison Between Control Subject and WS Subject.jpg|300px]]&lt;br /&gt;
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--[[User:Z3331469|z3331469]] 17:33, 16 August 2011 (EST)&lt;br /&gt;
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The frequency of SD cells for RB1 and SNRPN in WS and control individuals.&lt;br /&gt;
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[[File:The frequency of SD cells for RB1 and SNRPN in WS and control individuals.jpg|The frequency of SD cells for RB1 and SNRPN in WS and control individuals|400px]]&lt;br /&gt;
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--[[User:Z3332178|z3332178]] 23:22, 16 August 2011 (EST)&lt;br /&gt;
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I've found a good case study for WS, maybe we could have a case study sub-heading?? [http://onlinelibrary.wiley.com/doi/10.1111/j.1440-1754.1993.tb03023.x/abstract]&lt;br /&gt;
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--[[User:Z3331556|z3331556]] 13:38, 17 August 2011 (EST)&lt;br /&gt;
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==Suggestions for areas of research==&lt;br /&gt;
I thought I could get the ball rolling, let me know if you want to add or remove anything.&lt;br /&gt;
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===INTRODUCTION=== &lt;br /&gt;
(z3331556)&lt;br /&gt;
-What is William’s Syndrome? &lt;br /&gt;
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===History of the disease=== &lt;br /&gt;
(z3331556)&lt;br /&gt;
-How it was discovered &lt;br /&gt;
-Who discovered it? &lt;br /&gt;
-Timeline of how knowledge developed &lt;br /&gt;
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===Etiology===&lt;br /&gt;
(z3332183)&lt;br /&gt;
- Cause &lt;br /&gt;
- Susceptibility of the patient&lt;br /&gt;
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===Diagnosis===&lt;br /&gt;
(z3332183)&lt;br /&gt;
-How it’s detected (tests/examinations)&lt;br /&gt;
-How soon it can be detected?&lt;br /&gt;
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===Genetic Factors===&lt;br /&gt;
-deletions&lt;br /&gt;
(all)&lt;br /&gt;
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===Physical Characteristics===&lt;br /&gt;
-Facial characteristics etc.&lt;br /&gt;
(z3332178)&lt;br /&gt;
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===Associated medical conditions===&lt;br /&gt;
-Cardiac abnormalities (z3331556),(z3332178)&lt;br /&gt;
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-Renal abnormalities (z3331469) &lt;br /&gt;
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-other (hoarse voice, inguinal hernia, orthopaedic problems, hypercalcaemia etc.)&lt;br /&gt;
(z3332183)&lt;br /&gt;
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===Cognitive, Behavioural and Neurological Problems===&lt;br /&gt;
(z3332178)&lt;br /&gt;
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===Epidemiology===&lt;br /&gt;
-Incidence, distribution, and control of disease&lt;br /&gt;
(z3331469)&lt;br /&gt;
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===Management/treatment===&lt;br /&gt;
-Treatment of individual symptoms, avoid taking increased levels of calcium and Vitamin D&lt;br /&gt;
(z3331469)&lt;br /&gt;
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===Specialized Facilities/ supportive associations===&lt;br /&gt;
-Williams Syndrome Foundation (UK), Williams Syndrome Association&lt;br /&gt;
(all)&lt;br /&gt;
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===Case studies===&lt;br /&gt;
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1288273/&lt;br /&gt;
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2862007/&lt;br /&gt;
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===Interesting facts===&lt;br /&gt;
(all)&lt;br /&gt;
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===Current research and developments===&lt;br /&gt;
(all)&lt;br /&gt;
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==References==&lt;br /&gt;
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http://www.cddh.monash.org/assets/williams-synd.pdf&lt;br /&gt;
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--[[User:Z3331556|z3331556]] 18:09, 17 August 2011 (EST)&lt;br /&gt;
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http://books.google.com.au/books?id=qvKaSNg0pUcC&amp;amp;pg=PA158&amp;amp;lpg=PA158&amp;amp;dq=Williams+and+Barrett-Boyes&amp;amp;source=bl&amp;amp;ots=0SIpaamHuh&amp;amp;sig=4ouDsgFvt8XBbuwKPThFGWX9b4Y&amp;amp;hl=en&amp;amp;ei=8F5MTurlGuuNmQWA6eCyAg&amp;amp;sa=X&amp;amp;oi=book_result&amp;amp;ct=result&amp;amp;resnum=7&amp;amp;ved=0CEMQ6AEwBg#v=onepage&amp;amp;q=Williams%20and%20Barrett-Boyes&amp;amp;f=false  &lt;br /&gt;
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--[[User:Z3331556|z3331556]] 13:09, 18 August 2011 (EST)&lt;br /&gt;
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Williams Syndrome Foundation, accessed 22 August 2011, http://www.williams-syndrome.org.uk/&lt;br /&gt;
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Williams Syndrome Association, accessed 22 August 2011,  http://williams-syndrome.org/&lt;br /&gt;
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--[[User:Z3331469|z3331469]] 13:12, 22 August 2011 (EST)&lt;br /&gt;
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http://omim.org/clinicalSynopsis/194050 '''this is a clinical synopsis that is a good starting point for medical and physical abnormalities, it basically lists all complications associated with WS. I think we can use these as subheadings???'''&lt;br /&gt;
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1728781/pdf/v080p00205.pdf '''This is a source for cardiac abnormalities'''&lt;br /&gt;
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2946897/?tool=pmcentrez&lt;br /&gt;
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http://www.nature.com/ejhg/journal/v18/n1/full/ejhg2009108a.html&lt;br /&gt;
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'''These last two are basically introductory info on WS and they have info for the Genetics heading'''&lt;br /&gt;
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--[[User:Z3331556|z3331556]] 15:44, 27 August 2011 (EST)&lt;br /&gt;
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http://books.google.com.au/books?id=9E9q5112WBgC&amp;amp;pg=PA151&amp;amp;lpg=PA151&amp;amp;dq=hallux+valgus+in+williams+syndrome&amp;amp;source=bl&amp;amp;ots=LdaFmjSds_&amp;amp;sig=QW_9bjbIgo44rXQrwKTh2TF5hSo&amp;amp;hl=en&amp;amp;ei=__teTu2oNMjEmAXCx80B&amp;amp;sa=X&amp;amp;oi=book_result&amp;amp;ct=result&amp;amp;resnum=4&amp;amp;sqi=2&amp;amp;ved=0CCwQ6AEwAw#v=onepage&amp;amp;q&amp;amp;f=false&lt;br /&gt;
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--[[User:Z3331556|z3331556]] 13:38, 1 September 2011 (EST)&lt;br /&gt;
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http://www.ncbi.nlm.nih.gov/books/NBK1249/ '''another good source'''&lt;br /&gt;
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--[[User:Z3331556|z3331556]] 14:39, 3 September 2011 (EST)&lt;br /&gt;
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==Peer Assessments==&lt;br /&gt;
* Intro was good, it was brief and straight to the point&lt;br /&gt;
* The beginning paragraphs of the history could be more summarised especially considering that you have a timeline beneath&lt;br /&gt;
* Your use of a table for the genetics’ component was great. It was easy to read and concise. It was a different approach but it worked well. &lt;br /&gt;
* More information could have been added to the treatment section such as comparisons between key methods/strategies, the pros and cons&lt;br /&gt;
* The phenotype section was well set out although I believe it should have been placed up after the genetics section so that the information flows more consistently&lt;br /&gt;
* The layout of the implications section was slightly unclear. Maybe here you could have large heading for implications, followed by a list (dot point) of the implications occurred then have in paragraph form a description of each. Having headings such as: Other problems and other associated medical conditions tended to drag on this segment.&lt;br /&gt;
* The inclusion of the supportive associations was a nice little touch!&lt;br /&gt;
* Great use of referencing&lt;br /&gt;
--[[User:Z3332629|z3332629]] 15:30, 22 September 2011 (EST)&lt;/div&gt;</summary>
		<author><name>Z3217043</name></author>
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