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

Kouji Masumoto; Sachiyo Suita; Tomoaki Taguchi

doi:10.1097/01.mcd.0000220

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

Kouji Masumoto, Sachiyo Suita, Tomoaki Taguchi

Reproductive and Developmental Medicine

Research output: Contribution to journal › Article › peer-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 language	English
Pages (from-to)	213-216
Number of pages	4
Journal	Clinical Dysmorphology
Volume	15
Issue number	4
DOIs	https://doi.org/10.1097/01.mcd.0000220
Publication status	Published - Oct 1 2006

All Science Journal Classification (ASJC) codes

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

Access to Document

10.1097/01.mcd.0000220

Cite this

@article{c12ae5f15e964ce9a99ba847dcde6cdd,

title = "Oesophageal atresia with a terminal deletion of chromosome 2q37.1",

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.",

author = "Kouji Masumoto and Sachiyo Suita and Tomoaki Taguchi",

year = "2006",

month = oct,

day = "1",

doi = "10.1097/01.mcd.0000220",

language = "English",

volume = "15",

pages = "213--216",

journal = "Clinical Dysmorphology",

issn = "0962-8827",

publisher = "Lippincott Williams and Wilkins",

number = "4",

}

TY - JOUR

T1 - Oesophageal atresia with a terminal deletion of chromosome 2q37.1

AU - Masumoto, Kouji

AU - Suita, Sachiyo

AU - Taguchi, Tomoaki

PY - 2006/10/1

Y1 - 2006/10/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=33748528078&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33748528078&partnerID=8YFLogxK

U2 - 10.1097/01.mcd.0000220

DO - 10.1097/01.mcd.0000220

M3 - Article

C2 - 16957475

AN - SCOPUS:33748528078

SN - 0962-8827

VL - 15

SP - 213

EP - 216

JO - Clinical Dysmorphology

JF - Clinical Dysmorphology

IS - 4

ER -

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

Abstract

All Science Journal Classification (ASJC) codes

Access to Document

Other files and links

Fingerprint

Cite this