Monosomy: Difference between revisions
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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. | 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, 18p< | Other described autosomal monosomies include chromosome 3, 7, 18p<ref name=PMID18284672f><pubmed>18284672</pubmed>| [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2265258 PMC2265258] | [http://www.ojrd.com/content/3/1/4 Orphanet J Rare Dis.]</ref> and 21. | ||
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:'''Links:'''[[Amniocentesis]] | [[Chorionic villus sampling]] | :'''Links:'''[[Amniocentesis]] | [[Chorionic villus sampling]] | ||
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==:Monosomy 18p Syndrome== | |||
[[File:Monosomy 18p syndrome facial features.jpg|600px]] | |||
Monosomy 18p syndrome facial features<ref name=PMID18284672f><pubmed>18284672</pubmed>| [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2265258 PMC2265258] | [http://www.ojrd.com/content/3/1/4 Orphanet J Rare Dis.]</ref> | |||
A flat midface, mild ptosis, large ears with detached pinnae and short protruding upper lip. | |||
== References == | == References == |
Revision as of 10:41, 12 January 2015
Embryology - 5 May 2024 Expand to Translate |
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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, 18p[1] and 21.
| Genital System - Abnormalities
Some Recent Findings
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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> |
Prenatal Diagnosis
The most common prenatal diagnosis is by either amniocentesis or chorionic villi sampling.
:Monosomy 18p Syndrome
Monosomy 18p syndrome facial features[1]
A flat midface, mild ptosis, large ears with detached pinnae and short protruding upper lip.
References
- ↑ 1.0 1.1 <pubmed>18284672</pubmed>| PMC2265258 | Orphanet J Rare Dis.
- ↑ <pubmed>25287572</pubmed>
Reviews
<pubmed></pubmed> <pubmed>24083159</pubmed> <pubmed>18284672</pubmed>
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- Genetics Home Reference monosomy | turner syndrome | cri du chat syndrome
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Cite this page: Hill, M.A. (2024, May 5) 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