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

Purpose: To determine the incidence of 22q11.2 microdeletions in the adult survivors of correction of tetralogy of Fallot who have familial congenital heart disease. Methods: 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. Results: One of 18 (5.6%) patients had a microdeletion within 22q11.2, including both N25 and TUPLE1. Conclusion: 22q11.2 microdeletions involving TUPLE1 and/or N25 are present in a minority of adults with familial tetralogy of Fallot.