Microdeletion 22q11 and oesophageal atresia
- aDepartments of Medical Genetics, Paediatric Cardiology, and Neonatal Surgery, Bambino Gesù Hospital, Piazza S Onofrio 4, 00165 Rome, Italy, bDepartment of Human Genetics, Tor Vergata University, and Mendel-CSS Institute, Rome, Italy
- Dr Digilio.
- Received 30 January 1998
- Revised 13 July 1998
Abstract
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.
