Partial monosomy 13q explained

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 and signs

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

Notes and References

1. 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.