Monosomy
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| Monosomy Classification and external resources | |
| ICD-10 | Q93., Q96. |
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| MeSH | D009006 |
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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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Directions to Hospitals Treating Monosomy Risk calculators and risk factors for Monosomy
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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
Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
