title: 22q11.2 microdeletions in adults with familial tetralogy of Fallot.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  22q11.2 microdeletions involving TUPLE1 and/or N25 are present in a minority of adults with familial tetralogy of Fallot.
authors.affiliation: Children's Hospital of Illinois and University of Illinois College of Medicine at Peoria, USA.
authors.forename: J S
authors.initials: JS
authors.lastname: Hokanson
authors.forename: E
authors.initials: E
authors.lastname: Pierpont
authors.forename: B
authors.initials: B
authors.lastname: Hirsch
authors.forename: J H
authors.initials: JH
authors.lastname: Moller
mesh_terms: D000328:Adult; D018797:Cell Cycle Proteins; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D005192:Family Health; D005260:Female; D017353:Gene Deletion; D056488:Histone Chaperones; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D010290:Parents; D013771:Tetralogy of Fallot / Q000175:diagnosis* / Q000235:genetics* / Q000601:surgery; D014157:Transcription Factors / Q000235:genetics
chemical_list: D018797:Cell Cycle Proteins; C086057:HIRA protein, human; D056488:Histone Chaperones; D014157:Transcription Factors