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Eur J Med Genet. 2007 May-Jun;50(3):163-75. Epub 2007 Jan 21.

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

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  • 1Department of Paediatric Surgery, Erasmus MC Sophia Children's Hospital, Rotterdam, The Netherlands.


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.

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