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  • Title: 22q11.2 microdeletions in adults with familial tetralogy of Fallot.
    Author: Hokanson JS, Pierpont E, Hirsch B, Moller JH.
    Journal: Genet Med; 2001; 3(1):61-4. PubMed ID: 11339381.
    Abstract:
    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.
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