Trisomy 9 mosaicism in two girls with multiple congenital malformations and mental retardation
- PMID: 8320712
- PMCID: PMC1016387
- DOI: 10.1136/jmg.30.5.433
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, 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.
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