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Human Genetics

, Volume 95, Issue 5, pp 479–482 | Cite as

22q11 deletions in isolated and syndromic patients with tetralogy of Fallot

  • Francesca Amati
  • Aldo Mari
  • Maria Cristina Digilio
  • Rita Mingarelli
  • Bruno Marino
  • Aldo Giannotti
  • Giuseppe Novelli
  • Bruno Dallapiccola
Original Investigation

Abstract

Tetralogy of Fallot (TF) is a congenital conotruncal heart defect commonly found in DiGeorge (DGS) and velo-cardio-facial (VCFS) syndromes. The deletion of chromosome 22q11 (de122q11) is a well established cause of DGS and VCFS, and it has been demonstrated also in sporadic or familial cases of TF. In order to investigate the prevalence of de122q11 in patients with TF, we analyzed the DNA of 137 consecutive patients with syndromic and isolated TF, using the HD7k probe, which detects hemizygosity for the D22S134 locus. De122q11 has been detected in 11/26 (42%) syndromic patients. Evidence for hemizygosity was obtained in all patients with DGS and in 8/15 patients with VCFS. None of the 107 patients with isolated TF had de122q11. Our experience suggests that children with TF and de122q11 always present major or minor extracardiac anomalies. These features, including subtle facial dysmorphisms, should be checked routinely in patients with TF and other conotruncal heart defects.

Keywords

Internal Medicine Metabolic Disease Chromosome 22q11 Syndromic Patient Familial Case 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag 1995

Authors and Affiliations

  • Francesca Amati
    • 1
  • Aldo Mari
    • 1
  • Maria Cristina Digilio
    • 2
  • Rita Mingarelli
    • 3
  • Bruno Marino
    • 2
  • Aldo Giannotti
    • 2
  • Giuseppe Novelli
    • 3
  • Bruno Dallapiccola
    • 1
    • 4
  1. 1.Depart. ment of Public Health and Cell BiologyUniversity of Tor VergataRomeItaly
  2. 2.Departments of Pediatric Cardiology and Medical GeneticsBambino Gesù HospitalRomeItaly
  3. 3.C.S.S. HospitalSan Giovanni RotondoItaly
  4. 4.Department of Human GeneticsCatholic UniversityRomelItay

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