Monosomy: Difference between revisions
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Revision as of 17:30, 9 August 2012
| Monosomy | |
| ICD-10 | Q93, Q96 |
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| MeSH | D009006 |
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WikiDoc Resources for Monosomy |
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Most recent articles on Monosomy |
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Evidence Based Medicine |
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Clinical Trials |
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Ongoing Trials on Monosomy at Clinical Trials.gov Clinical Trials on Monosomy at Google
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US National Guidelines Clearinghouse on Monosomy
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Commentary |
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Definitions |
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Directions to Hospitals Treating Monosomy Risk calculators and risk factors for Monosomy
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Causes & Risk Factors for Monosomy |
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Continuing Medical Education (CME) |
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International |
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Experimental / Informatics |
Overview
Monosomy is a form of aneuploidy with the presence of only one chromosome (instead of the typical two in humans) from a pair.[1] Partial monosomy occurs when only a portion of the chromosome has one copy, while the rest has two copies.
Human monosomy
Human conditions due to monosomy:
- Turner syndrome - Women with Turner syndrome typically have one X chromosome instead of the usual two. Turner syndrome is the only full monosomy that is seen in humans.
- Cri du chat syndrome -- (French for "cry of the cat" after the distinctive noise by affected persons' malformed larynx) a partial monosomy caused by a deletion of the end of the short p (from the word petit, French for small) arm of chromosome 5
- 1p36 Deletion Syndrome -- a partial monosomy caused by a deletion at the end of the short p arm of chromosome 1
References
- ↑ "CRC - Glossary M". Retrieved 2007-12-23.