Excess of deletions of maternal origin in the DiGeorge/velo-cardio-facial syndromes. A study of 22 new patients and review of the literature

S Demczuk; A Lévy; M Aubry; M F Croquette; N Philip; M Prieur; U Sauer; P Bouvagnet; G A Rouleau; G Thomas

doi:10.1007/BF00214179

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. 1995 Jul;96(1):9-13. doi: 10.1007/BF00214179.

Authors

S Demczuk¹, A Lévy, M Aubry, M F Croquette, N Philip, M Prieur, U Sauer, P Bouvagnet, G A Rouleau, G Thomas, et al.

Affiliation

¹ Laboratoire de Génétique des Tumeurs, Institut Curie, Paris, France.

PMID: 7607662
DOI: 10.1007/BF00214179

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 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.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Chromosome Deletion*
Chromosomes, Human, Pair 22 / genetics*
DiGeorge Syndrome / genetics*
Face / abnormalities*
Female
Heart Defects, Congenital / genetics*
Humans
Male
Molecular Sequence Data
Polymerase Chain Reaction
Repetitive Sequences, Nucleic Acid

Associated data

GENBANK/X62391