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Monosomy
Monosomy
Classification & external resources
| ICD-10 |
Q93., Q96. |
| MeSH |
D009006 |
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 on 2007-12-23.
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Pathology: chromosome abnormalities (Q90-Q99, 758) |
| Autosomal trisomies |
Down syndrome (21), Edwards syndrome (18), Patau syndrome (13), Trisomy 9, Warkany syndrome 2 (8), Cat eye syndrome (22) |
| Autosomal monosomies/deletions |
Wolf-Hirschhorn syndrome (4), Cri du chat (5), Angelman syndrome/Prader-Willi syndrome (15), Miller-Dieker syndrome/Smith-Magenis syndrome (17), 22q11.2 deletion syndrome (22) |
| X/Y linked |
Monosomy: Turner syndrome (XO)
Trisomy: Triple X syndrome (XXX), Klinefelter's syndrome (XXY), XYY |
| Translocations |
Philadelphia chromosome, Burkitt's lymphoma |
| Other |
Fragile X syndrome, Gonadal dysgenesis (Mixed gonadal dysgenesis) |
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This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Monosomy". A list of authors is available in Wikipedia.
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