Genetics in medicine : official journal of the American College of Medical Genetics · 2001
22q11.2 microdeletions in adults with familial tetralogy of Fallot.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Hokanson J S, Pierpont E, Hirsch B, Moller J H
Аннотация
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.
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.