Chromosomal anomalies in the aetiology of oesophageal atresia-and tracheo-oesophageal fistula

被引：53
作者：
Felix, Janine F.
Tibboel, Dick
de Klein, Annelies
机构：
[1] Sophia Childrens Univ Hosp, Erasmus MC, Dept Paediat Surg, NL-3000 CB Rotterdam, Netherlands
[2] Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands
来源：
EUROPEAN JOURNAL OF MEDICAL GENETICS | 2007年 / 50卷 / 03期
关键词：
esophageal atresia; tracheoesophageal fistula; chromosomes; human;
D O I：
10.1016/j.ejmg.2006.12.004
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Oesophageal atresia (OA) and tracheo-oesophageal fistula (TOF) are severe congenital anomalies of which the aetiology is largely unknown. Several chromosomal anomalies have been described in patients presenting with these anatomical malformations, but until now none of these has led to the identification of a single aetiological factor. This paper reviews the chromosomal abnormalities reported in cases of OA/ TOF and serves as a starting point to-identify chromosomal regions harbouring genes involved in the aetiology of OA/TOF (c) 2007 Elsevier Masson SAS. All rights,reserved.
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收藏
页码：163 / 175
页数：13
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