A case of de novo interstitial deletion 3q. Issue 5 (May 1987)

• Record Type: Journal Article
• Authors: Okada, N; Hasegawa, T; Osawa, M; Fukuyama, Y
• Is Part Of: Journal of medical genetics. Volume 24:Issue 5(1987)
• Page Start: 305
• Page End: 308
• Publication Date: 1987-05
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.24.5.305
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : A rare chromosome abnormality consisting of interstitial deletion 3q was found in a malformed girl. Chromosome analysis using G and Q banding showed deletion of bands 3q12----3q21: 46, XX, del(3)(pter----q12::q21----qter). The clinical features of the proband included severe psychomotor retardation, craniofacial asymmetry, hypertelorism, epicanthus, high arched palate, progressive scoliosis, multiple skin pigmentations, and renal abnormalities. The parents had normal karyotypes.