Oesophageal atresia with a terminal deletion of chromosome 2q37.1

Kouji Masumoto, Sachiyo Suita, Tomoaki Taguchi

Research output: Contribution to journalArticlepeer-review

7 Citations (Scopus)

Abstract

We herein report the case of a newborn girl with oesophageal atresia associated with cardiac and gastrointestinal anomalies, including patent ductus arteriosus, tracheomalacia, and gastro-oesophageal reflux with hiatus hernia. In addition, she had a terminal deletion of the long arm of chromosome 2, with a breakpoint of 2q37.1. The patient died following a cardiac arrest at 90 days of age. No cause of death was identified at autopsy.

Original languageEnglish
Pages (from-to)213-216
Number of pages4
JournalClinical Dysmorphology
Volume15
Issue number4
DOIs
Publication statusPublished - Oct 1 2006

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Anatomy
  • Pathology and Forensic Medicine
  • Genetics(clinical)

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