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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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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 χ2 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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Authors and Affiliations

  1. Laboratoire de Génétique des Tumeurs, Institut Curie, 26 rue d'Ulm, 75231, Paris cedex 05, France

    Suzanne Demczuk, Gilles Thomas & Alain Aurias

  2. Centre de Recherche en Neuroscience, Université McGill et Institut de Recherche de l'Hôpital Général de Montréal, 1650, Cedar, Montréal, Canada

    Suzanne Demczuk & Guy A. Rouleau

  3. Laboratoire de Physiopathologie Chromosomique, Faculté de Médecine de La Timone, 27 boulevard Jean Moulin, Marseille, France

    Annie Lévy & Nicole Philip

  4. Institut de Recherches Cliniques de Montréal and Département de Médecine, Université de Montréal, 110 avenue des Pins O., Montréal, Canada

    Muriel Aubry

  5. Laboratoire de Cytogénétique, Hôpital Saint-Antoine, 329 boulevard Victor Hugo, Lille, France

    Marie-Françoise Croquette

  6. Laboratoire de Cytogénétique Hôpital des Enfants Malades, 149 rue de Sèvres, Paris, France

    Marguerite Prieur

  7. Kinderklinik, Deutsches Herzzentrum, Lothstrasse 11, München, Germany

    Ursula Sauer

  8. Centre de Recherche de Biochimie Macromoléculaire, BP 5051, UPR 9008, Montpellier, France

    Patrice Bouvagnet

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  1. Suzanne Demczuk
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  2. Annie Lévy
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Demczuk, S., Lévy, A., Aubry, M. et al. Excess of deletions of maternal origin in the DiGeorge/Velo-cardio-facial syndromes. A study of 22 new patients and review of the literature. Hum Genet 96, 9–13 (1995). https://doi.org/10.1007/BF00214179

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  • DOI: https://doi.org/10.1007/BF00214179

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