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

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, gastrooesophageal 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.