title: Pure duplication of 19p13.3.
abstract: Chromosomal abnormalities involving 19p13.3 have rarely been described in the published literature. Here, we report on a girl with a pure terminal duplication of 6.1 Mb on 19p13.3, caused by an unbalanced translocation der(19)t(10;19)(qter;p13.3)dn. Her phenotype included severe psychomotor developmental delay, skeletal malformations, and a distinctive facial appearance, similar to that of a patient previously reported by Lybaek et al. [Lybaek et al. (2009); Eur J Hum Genet 17:904-910]. These results suggest that a duplication of >3 Mb at the terminus of 19p13.3 might represent a distinct chromosomal syndrome.
authors.affiliation: Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
authors.forename: Aki
authors.initials: A
authors.lastname: Ishikawa
authors.forename: Keisuke
authors.initials: K
authors.lastname: Enomoto
authors.forename: Makiko
authors.initials: M
authors.lastname: Tominaga
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Saito
authors.forename: Jun-ichi
authors.initials: J
authors.lastname: Nagai
authors.forename: Noritaka
authors.initials: N
authors.lastname: Furuya
authors.forename: Kentaro
authors.initials: K
authors.lastname: Ueno
authors.forename: Hideaki
authors.initials: H
authors.lastname: Ueda
authors.forename: Mitsuo
authors.initials: M
authors.lastname: Masuno
authors.forename: Kenji
authors.initials: K
authors.lastname: Kurosawa
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D002675:Child, Preschool; D058674:Chromosome Duplication; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19; D055028:Comparative Genomic Hybridization; D019066:Facies; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D010641:Phenotype
keywords: 19p13.3 duplication; array CGH; developmental delay; subtelomere