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a Departments of
Medical Genetics, Paediatric Cardiology, and Neonatal Surgery, Bambino
Gesù Hospital, Piazza S Onofrio 4, 00165 Rome, Italy, b Department of Human Genetics, Tor Vergata
University, and Mendel-CSS Institute, Rome, Italy
Correspondence to: Dr Digilio.
Received 30 January 1998;
Revised version accepted for publication 13 July
1998
Oesophageal atresia (OA) is a congenital defect
associated with additional malformations in 30-70% of the cases. In
particular, OA is a component of the VACTERL association. Since some
major features of the VACTERL association, including conotruncal heart defect, radial aplasia, and anal atresia, have been found in patients with microdeletion 22q11.2 (del(22q11.2)), we have screened for del(22q11.2) by fluorescent in situ hybridisation (FISH) in 15 syndromic patients with OA. Del(22q11.2) was detected in one of them,
presenting with OA, tetralogy of Fallot, anal atresia, neonatal hypocalcaemia, and subtle facial anomalies resembling those of velocardiofacial syndrome. The occurrence of del(22q11.2) in our series
of patients with OA is low (1/15), but this chromosomal anomaly should
be included among causative factors of malformation complexes with OA.
In addition, clinical variability of del(22q11.2) syndrome is further
corroborated with inclusion of OA in the list of the findings
associated with the deletion.
This article has been cited by other articles:
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  C Shaw-Smith Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology J. Med. Genet., July 1, 2006; 43(7): 545 - 554. [Abstract] [Full Text] [PDF]
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