title: Congenital diaphragmatic hernia with a pure duplication of chromosome 1q: report of the first surviving case.
abstract: Congenital diaphragmatic hernia (CDH) occurs in multiple malformation syndromes and associations, and has been associated with cytogenetic aberrations on almost every chromosome arm. However, CDH with a duplication of chromosome 1q is very rare in the literature, and all previously reported cases with detailed clinical courses died soon after birth. We present the first surviving case of CDH with a duplication of 1q12-q23, who had arthrogryposis multiplex congenita and hypertrophic cardiomyopathy. CDH patients with a proximal duplication of chromosome 1q may have a chance for survival, and CDH with a duplication of chromosome 1q is not necessarily a lethal association.
authors.affiliation: Department of Gastrointestinal and Pediatric Surgery, Mie University Graduate School of Medicine, Edobashi 2-174, Tsu, Mie 514-8507, Japan. kohei815@clin.medic.mie-u.ac.jp
authors.forename: Kohei
authors.initials: K
authors.lastname: Otake
authors.forename: Keiichi
authors.initials: K
authors.lastname: Uchida
authors.forename: Mikihiro
authors.initials: M
authors.lastname: Inoue
authors.forename: Yuhki
authors.initials: Y
authors.lastname: Koike
authors.forename: Kohei
authors.initials: K
authors.lastname: Matsushita
authors.forename: Chikao
authors.initials: C
authors.lastname: Miki
authors.forename: Takashi
authors.initials: T
authors.lastname: Sugiyama
authors.forename: Masato
authors.initials: M
authors.lastname: Kusunoki
mesh_terms: D001176:Arthrogryposis / Q000150:complications; D002312:Cardiomyopathy, Hypertrophic / Q000150:complications; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002878:Chromosomes, Human, Pair 1; D005260:Female; D006548:Hernia, Diaphragmatic / Q000235:genetics*; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans