Trisomy 9 mosaicism in two girls with multiple congenital malformations and mental retardation. Issue 5 (May 1993)

• Record Type: Journal Article
• Authors: Stoll, C; Chognot, D; Halb, A; Luckel, J C
• Is Part Of: Journal of medical genetics. Volume 30:Issue 5(1993)
• Page Start: 433
• Page End: 435
• Publication Date: 1993-05
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.30.5.433
• Languages: English
• ISSNs: 1468-6244

Abstract

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.