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 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

Diagnosis

Treatment

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.
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