Monosomy
Embryology - 16 Jun 2024 Expand to Translate |
---|
Google Translate - select your language from the list shown below (this will open a new external page) |
العربية | català | 中文 | 中國傳統的 | français | Deutsche | עִברִית | हिंदी | bahasa Indonesia | italiano | 日本語 | 한국어 | မြန်မာ | Pilipino | Polskie | português | ਪੰਜਾਬੀ ਦੇ | Română | русский | Español | Swahili | Svensk | ไทย | Türkçe | اردو | ייִדיש | Tiếng Việt These external translations are automated and may not be accurate. (More? About Translations) |
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
|
More recent papers |
---|
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) |
---|---|
|
|
- Links: OMIM123450 | Cri du Chat - audio recording
References
- ↑ <pubmed>25533182</pubmed>
- ↑ <pubmed>18284672</pubmed>| PMC2265258 | Orphanet J Rare Dis.
- ↑ <pubmed>19267933</pubmed>| Orphanet J Rare Dis.
- ↑ <pubmed>16953888</pubmed>
- ↑ <pubmed>20038906</pubmed>
Reviews
<pubmed>24083159</pubmed> <pubmed>20014362</pubmed> <pubmed>18284672</pubmed> <pubmed>16953888</pubmed> <pubmed>10899807</pubmed>
Articles
<pubmed></pubmed> <pubmed></pubmed> <pubmed></pubmed> <pubmed>10931762</pubmed>
Search PubMed
Search Pubmed: Monosomy
External Links
External Links Notice - The dynamic nature of the internet may mean that some of these listed links may no longer function. If the link no longer works search the web with the link text or name. Links to any external commercial sites are provided for information purposes only and should never be considered an endorsement. UNSW Embryology is provided as an educational resource with no clinical information or commercial affiliation.
- Genetics Home Reference monosomy | turner syndrome | cri du chat syndrome
- Orphanet turner syndrome
Glossary Links
- Glossary: A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z | Numbers | Symbols | Term Link
Cite this page: Hill, M.A. (2024, June 16) Embryology Monosomy. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Monosomy
- © Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G