Clinical manifestations in trisomy 9 mosaicism

Abstract

Trisomy 9 is a rare chromosome abnormality which can occur in a mosaic ornonmosaic state with similar clinical features. The authors present a male withmosaic trisomy 9 from birth to 6 months of life. Clinical manifestations includedgrowth retardation, facial dysmorphism with marked hemi facial hypoplasia andfacial asymmetry, single palmar flexion crease, retro calcaneovalgus feet, atrialseptal defect, undescended testes and hypospadia. He had several episodesof seizures and ultrasound examination described severe ventriculomegaly,with poorly differentiated parenchyme. These findings are compared to theother previously described cases of trisomy 9 mosaicism through a reviewof literature.