Partial monosomy 13q

Partial monosomy 13q
	Chromosome 13 which is involved in this condition

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

Diagnosis

Treatment

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.

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[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.