22q11.2 microdeletions in adults with familial tetralogy of Fallot.

Abstract

To determine the incidence of 22q11.2 microdeletions in the adult survivors of correction of tetralogy of Fallot who have familial congenital heart disease. Patients who had survived a correction of tetralogy of Fallot between 1954 and 1974 and had affected family members were identified during a study of these long-term survivors. Fluorescence in situ hybridization analysis was performed using both the N 25 (Oncor) and TUPLE1(VYSIS) probes, mapped to 22q11.2. One of 18 (5.6%) patients had a microdeletion within 22q11.2, including both N25 and TUPLE1. 22q11.2 microdeletions involving TUPLE1 and/or N25 are present in a minority of adults with familial tetralogy of Fallot.