Trisomy 9 mosaicism in two girls with multiple congenital malformations and mental retardation

J Med Genet. 1993 May;30(5):433-5. doi: 10.1136/jmg.30.5.433.

Abstract

Two girls with mosaicism for an extra chromosome 9 are reported. Clinical findings included growth and mental retardation, facial dysmorphism, delayed ossification, single flexion crease, gastro-oesophageal reflux in one girl, and ventricular and atrial septal defects in the other patient. These findings are compared to the other previously reported cases of trisomy 9 mosaicism.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosomes, Human, Pair 9*
  • Facial Bones / abnormalities
  • Female
  • Growth Disorders / congenital
  • Growth Disorders / genetics
  • Humans
  • Infant
  • Intellectual Disability / genetics*
  • Mosaicism*
  • Trisomy*