Excess of deletions of maternal origin in the DiGeorge/Velo-cardio-facial syndromes. A study of 22 new patients and review of the literature Journal Articles uri icon

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  • We have determined the parental origin of the deleted chromosome 22 in 29 cases of DiGeorge syndrome (DGS) using a CA-repeat mapping within the commonly deleted region, and in one other case by using a chromosome 22 short arm heteromorphism. The CA-repeat was informative in 21 out of 29 families studied and the deleted chromosome was of maternal origin in 16 cases (72%). When these data are pooled with recent results from the literature, 24 de novo DGS, velo-cardio-facial syndrome (VCFS) and isolated conotruncal cardiac disease deletions are found to be of maternal origin and 8 of paternal origin, yielding a chi 2 of 8 with a probability level lower than 0.01. These data, and review of the literature on familial DGS/VCFS and isolated conotruncal cardiopathies suggest that there is a strong tendency for the 22q11.2 deletions to be of maternal origin.


  • Demczuk, Suzanne
  • L�vy, Annie
  • Aubry, Muriel
  • Croquette, Marie-Fran oise
  • Philip, Nicole
  • Prieur, Marguerite
  • Sauer, Ursula
  • Bouvagnet, Patrice
  • Rouleau, Guy A
  • Thomas, Gilles
  • Aurias, Alain

publication date

  • July 1995