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Trisomy 9 mosaicism in two girls with multiple congenital malformations and mental retardation.
Authors:C Stoll   D Chognot   A Halb     J C Luckel
Affiliation:Institut de Puériculture, Centre Hospitalo-Universitaire, Strasbourg, France.
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.
Keywords:
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