title: Interstitial duplication of the short arm of chromosome 2: report of a new case and review.
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.
authors.affiliation: Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon.
authors.forename: A
authors.initials: A
authors.lastname: Mégarbané
authors.forename: N
authors.initials: N
authors.lastname: Souraty
authors.forename: M
authors.initials: M
authors.lastname: Prieur
authors.forename: D
authors.initials: D
authors.lastname: Theophile
authors.forename: P
authors.initials: P
authors.lastname: Chédid
authors.forename: J
authors.initials: J
authors.lastname: Augé
authors.forename: M
authors.initials: M
authors.lastname: Vekemans
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D002889:Chromosomes, Human, Pair 2; D005145:Face / Q000002:abnormalities*; D005260:Female; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy