Interstitial duplication of the short arm of chromosome 2: report of a new case and review

• Published in: Journal of medical genetics Vol. 34; no. 9; pp. 783 - 786
• Main Authors: Mégarbané, A, Souraty, N, Prieur, M, Theophile, D, Chédid, P, Augé, J, Vekemans, M
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01.09.1997; BMJ; BMJ Publishing Group LTD
• Subjects: Adult; Biological and medical sciences; Chromosome Aberrations; Chromosomes, Human, Pair 2; Face - abnormalities; Female; Growth Disorders - genetics; Humans; In Situ Hybridization, Fluorescence; Infant; Infant, Newborn; Male; Medical genetics; Medical sciences; Pregnancy; Chromosomal aberration; Human; Case study; Phenotype; Abnormal chromosome A2; Abnormal chromosome; Genetics; Infant; Interstitial; Chromosome duplication; Bibliographic review
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.34.9.783

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.