Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Partial monosomy 13q
Introduction
Overview
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
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
References
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.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Jyostna Chouturi, M.B.B.S [2]