Congenital diaphragmatic hernia with a pure duplication of chromosome 1q: Report of the first surviving case

Kohei Otake, Keiichi Uchida, Mikihiro Inoue, Yuhki Koike, Kohei Matsushita, Chikao Miki, Takashi Sugiyama, Masato Kusunoki

Research output: Contribution to journalArticlepeer-review

6 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)827-831
Number of pages5
JournalPediatric Surgery International
Volume25
Issue number9
DOIs
Publication statusPublished - 2009 Sep 1

Keywords

  • 1q duplication
  • Chromosome abnormality
  • Congenital diaphragmatic hernia

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Surgery

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