Excess of deletions of maternal origin in the DiGeorge/Velo-cardio-facial syndromes. A study of 22 new patients and review of the literature |
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| Authors: | Suzanne Demczuk Annie Lévy Muriel Aubry Marie-Françoise Croquette Nicole Philip Marguerite Prieur Ursula Sauer Patrice Bouvagnet Guy A Rouleau Gilles Thomas Alain Aurias |
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| Institution: | (1) Laboratoire de Génétique des Tumeurs, Institut Curie, 26 rue d'Ulm, 75231 Paris cedex 05, France;(2) Centre de Recherche en Neuroscience, Université McGill et Institut de Recherche de l'Hôpital Général de Montréal, 1650 Cedar, Montréal, Canada;(3) Laboratoire de Physiopathologie Chromosomique, Faculté de Médecine de La Timone, 27 boulevard Jean Moulin, Marseille, France;(4) Institut de Recherches Cliniques de Montréal and Département de Médecine, Université de Montréal, 110 avenue des Pins O., Montréal, Canada;(5) Laboratoire de Cytogénétique, Hôpital Saint-Antoine, 329 boulevard Victor Hugo, Lille, France;(6) Laboratoire de Cytogénétique Hôpital des Enfants Malades, 149 rue de Sèvres, Paris, France;(7) Kinderklinik, Deutsches Herzzentrum, Lothstrasse 11, München, Germany;(8) Centre de Recherche de Biochimie Macromoléculaire, BP 5051, UPR 9008 Montpellier, France |
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| Abstract: | 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  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. |
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