Interstitial duplication of the short arm of chromosome 2: report of a new case and review. Issue 9 (September 1997)

• Record Type: Journal Article
• Authors: Mégarbané, A; Souraty, N; Prieur, M; Theophile, D; Chédid, P; Augé, J; Vekemans, M
• Is Part Of: Journal of medical genetics. Volume 34:Issue 9(1997)
• Page Start: 783
• Page End: 786
• Publication Date: 1997-09
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.34.9.783
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : An 18 month old girl was referred to us because of dysmorphic features and psychomotor and growth retardation. On physical examination, she was found to have microcephaly, open fontanelles, a prominent forehead, a flat occiput, hypertelorism, sparse eyebrows, a small nose with a depressed nasal bridge, a bulging philtrum, a thin upper lip, a high arched palate, low set and posteriorly rotated ears, a small mandible, a short neck with a low hair line, and eye malformations. High resolution chromosome analysis identified a de novo direct duplication of the 2p21.00-->p24.2 region. The phenotype of de novo partial trisomy 2p is discussed.