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PMID: 7607662 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Review

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

Human genetics ·Vol. 96 ·No. 1 ·1995-07-00 ·Pages 9-13

Demczuk S, Lévy A, Aubry M, Croquette MF, Philip N, Prieur M, Sauer U, Bouvagnet P, Rouleau GA, Thomas G

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.

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
Authors & Affiliations
10 authors, click to expand affiliations / ORCID
Demczuk S
Laboratoire de Génétique des Tumeurs, Institut Curie, Paris, France.
Lévy A
Aubry M
Croquette M F
Philip N
Prieur M
Sauer U
Bouvagnet P
Rouleau G A
Thomas G
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Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00214179
Published
1995-07-00
Pages
9-13
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
Databases
GENBANK
X62391
External Links
PubMed source DOI: 10.1007/BF00214179 View journal details
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