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

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• PMID: 17336605
• DOI: 10.1016/j.ejmg.2006.12.004

Review

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

Janine F Felix et al. Eur J Med Genet. 2007 May-Jun.

Abstract

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.

Comment in

• Structural autosomal imbalance and oesophageal defects: addendum to the article by Felix et al. (2007).

  Lurie IW. Lurie IW. Eur J Med Genet. 2007 Jul-Aug;50(4):322-5. doi: 10.1016/j.ejmg.2007.03.001. Epub 2007 Apr 10. Eur J Med Genet. 2007. PMID: 17531564

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