Monosomy: Difference between revisions
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* '''Turner syndrome-issues to consider for transition to adulthood''' | * '''Turner syndrome-issues to consider for transition to adulthood'''{{#pmid:25533182|PMID25533182}} "Turner syndrome (TS) is associated with a spectrum of health problems across the age span, which requires particular attention during the transition period in these adolescents. The majority of girls with TS require oestrogen replacement from puberty onwards, which is important for adequate feminization, uterine development and maintenance of bone health. There is a lifetime increased risk from autoimmune conditions like hypothyroidism, coeliac disease, hearing loss and aortic dilatation with the potential to lead to aortic dissection. A systematic and holistic approach to provision of health care in TS is needed." | ||
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[[File:Monosomy 18p syndrome facial features.jpg|600px]] | [[File:Monosomy 18p syndrome facial features.jpg|600px]] | ||
Monosomy 18p syndrome facial features | Monosomy 18p syndrome facial features{{#pmid:18284672|PMID18284672}} | ||
A flat midface, mild ptosis, large ears with detached pinnae and short protruding upper lip. | A flat midface, mild ptosis, large ears with detached pinnae and short protruding upper lip. | ||
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==Jacobsen Syndrome== | ==Jacobsen Syndrome== | ||
Jacobsen syndrome (JS) is a rare partial deletion of the long arm of chromosome 11. | Jacobsen syndrome (JS) is a rare partial deletion of the long arm of chromosome 11.{{#pmid:19267933|PMID19267933}} | ||
==Cri du Chat Syndrome== | ==Cri du Chat Syndrome== | ||
[[File:Chromosome 5P deletions.jpg|thumb|alt=Chromosome 5P deletions|Chromosome 5P deletions | [[File:Chromosome 5P deletions.jpg|thumb|alt=Chromosome 5P deletions|Chromosome 5P deletions{{#pmid:16953888|PMID16953888}}]] | ||
Chromosome 5P Deletion Syndrome or "Cri du Chat" (cat's cry) is a partial monosomy syndrome occurring in humans (1:15,000 to 1:50,000 live-born infants) associated with a piece of chromosome 5 is missing, see reviews. | Chromosome 5P Deletion Syndrome or "Cri du Chat" (cat's cry) is a partial monosomy syndrome occurring in humans (1:15,000 to 1:50,000 live-born infants) associated with a piece of chromosome 5 is missing, see reviews.{{#pmid:16953888|PMID16953888}}{{#pmid:20038906|PMID20038906}} | ||
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===Reviews=== | ===Reviews=== | ||
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===Articles=== | ===Articles=== | ||
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===Search PubMed=== | ===Search PubMed=== |
Revision as of 08:08, 5 April 2018
Embryology - 1 Jun 2024 Expand to Translate |
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Educational Use Only - Embryology is an educational resource for learning concepts in embryological development, no clinical information is provided and content should not be used for any other purpose. |
Introduction
Monosomy refers to the presence of only one chromosome from the normal pair in the embryo. A partial monosomy is when there is only one copy of a segment of a chromosome present.
A complete monosomy syndrome in female humans is seen in Turner syndrome (Monosomy X) associated with either a missing or altered second X chromosome.
A partial monosomy syndrome in humans is seen in Cri du Chat (cat's cry) syndrome associated with a piece of chromosome 5 is missing.
Other described autosomal monosomies include chromosome 3, 7, 11, 18p and 21.
| Genital System - Abnormalities
Some Recent Findings
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More recent papers |
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This table allows an automated computer search of the external PubMed database using the listed "Search term" text link.
More? References | Discussion Page | Journal Searches | 2019 References | 2020 References Search term: Monosomy <pubmed limit=5>Monosomy</pubmed> |
International Classification of Diseases
Chromosomal abnormalities, not elsewhere classified (Q90-Q99)
Q93 Monosomies and deletions from the autosomes, not elsewhere classified
Q96 Turner's syndrome Excl.: Noonan's syndrome (Q87.1)
Prenatal Diagnosis
The most common prenatal diagnosis is by either amniocentesis or chorionic villi sampling.
Movies
Monosomy |
Page | Play |
Monosomy X
Monosomy XO or Turner's syndrome results in 99% non-viable embryos, viable development fail to sexually mature at puberty.
Named after Henry Turner (1938), an American clinician who first described the condition.
Monosomy 18p Syndrome
Monosomy 18p syndrome facial features[2]
A flat midface, mild ptosis, large ears with detached pinnae and short protruding upper lip.
Jacobsen Syndrome
Jacobsen syndrome (JS) is a rare partial deletion of the long arm of chromosome 11.[3]
Cri du Chat Syndrome
Chromosome 5P Deletion Syndrome or "Cri du Chat" (cat's cry) is a partial monosomy syndrome occurring in humans (1:15,000 to 1:50,000 live-born infants) associated with a piece of chromosome 5 is missing, see reviews.[4][5]
Clinical Features | Malformations (infrequently associated) |
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- Links: OMIM123450 | Cri du Chat - audio recording
References
- ↑ Lucaccioni L, Wong SC, Smyth A, Lyall H, Dominiczak A, Ahmed SF & Mason A. (2015). Turner syndrome--issues to consider for transition to adulthood. Br. Med. Bull. , 113, 45-58. PMID: 25533182 DOI.
- ↑ Turleau C. (2008). Monosomy 18p. Orphanet J Rare Dis , 3, 4. PMID: 18284672 DOI.
- ↑ Mattina T, Perrotta CS & Grossfeld P. (2009). Jacobsen syndrome. Orphanet J Rare Dis , 4, 9. PMID: 19267933 DOI.
- ↑ 4.0 4.1 Cerruti Mainardi P. (2006). Cri du Chat syndrome. Orphanet J Rare Dis , 1, 33. PMID: 16953888 DOI.
- ↑ Rodríguez-Caballero A, Torres-Lagares D, Rodríguez-Pérez A, Serrera-Figallo MA, Hernández-Guisado JM & Machuca-Portillo G. (2010). Cri du chat syndrome: a critical review. Med Oral Patol Oral Cir Bucal , 15, e473-8. PMID: 20038906
Reviews
Agarwal P, Philip R, Gutch M & Gupta KK. (2013). The other side of Turner's: Noonan's syndrome. Indian J Endocrinol Metab , 17, 794-8. PMID: 24083159 DOI.
Hong D, Scaletta Kent J & Kesler S. (2009). Cognitive profile of Turner syndrome. Dev Disabil Res Rev , 15, 270-8. PMID: 20014362 DOI.
Turleau C. (2008). Monosomy 18p. Orphanet J Rare Dis , 3, 4. PMID: 18284672 DOI.
Cerruti Mainardi P. (2006). Cri du Chat syndrome. Orphanet J Rare Dis , 1, 33. PMID: 16953888 DOI.
Ross J, Zinn A & McCauley E. (2000). Neurodevelopmental and psychosocial aspects of Turner syndrome. Ment Retard Dev Disabil Res Rev , 6, 135-41. PMID: 10899807 <135::AID-MRDD8>3.0.CO;2-K DOI.
Articles
Ross JL, Roeltgen D, Kushner H, Wei F & Zinn AR. (2000). The Turner syndrome-associated neurocognitive phenotype maps to distal Xp. Am. J. Hum. Genet. , 67, 672-81. PMID: 10931762 DOI.
Search PubMed
Search Pubmed: Monosomy
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Cite this page: Hill, M.A. (2024, June 1) Embryology Monosomy. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Monosomy
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