Partial monosomy 13q
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Jyostna Chouturi, M.B.B.S [2]
Overview
Partial monosomy of chromosome 13q is a monosomy that results from the loss of all or part of the long arm of chromosome 13 in human beings. It is a rare genetic disorder which results in severe congenital abnormalities which are frequently fatal at an early age. Up until 2003, more than 125 cases had been documented in medical literature.[1]
Symptoms
Symptoms vary from case to case, and may correlate to how much of the chromosome is missing. Symptoms that are frequently observed with the condition include:
- Low birth weight
- Malformations of the head
- Eye abnormalities
- Defects of the hands and feet, polydactyly
- Reproductive abnormalities (males)
- Psychological and motor retardation
External Reading
[3] NORD Database, on BcHealthGuide.org
References
- ↑ Kardon NB. Chromosomal Disorders. In: Winters R, Lazar T, Kirchner K, Stoye K, McLaughlin MA, Rothschild R, eds. NORD Guide to Rare Disorders. 3rd ed. Philadelphia, PA: Lippincott Williams & Wilkins; 2003:62-63.