title: Excess of deletions of maternal origin in the DiGeorge/velo-cardio-facial syndromes. A study of 22 new patients and review of the literature.
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.
authors.affiliation: Laboratoire de Génétique des Tumeurs, Institut Curie, Paris, France.
authors.forename: S
authors.initials: S
authors.lastname: Demczuk
authors.forename: A
authors.initials: A
authors.lastname: Lévy
authors.forename: M
authors.initials: M
authors.lastname: Aubry
authors.forename: M F
authors.initials: MF
authors.lastname: Croquette
authors.forename: N
authors.initials: N
authors.lastname: Philip
authors.forename: M
authors.initials: M
authors.lastname: Prieur
authors.forename: U
authors.initials: U
authors.lastname: Sauer
authors.forename: P
authors.initials: P
authors.lastname: Bouvagnet
authors.forename: G A
authors.initials: GA
authors.lastname: Rouleau
authors.forename: G
authors.initials: G
authors.lastname: Thomas
mesh_terms: D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D004062:DiGeorge Syndrome / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D012091:Repetitive Sequences, Nucleic Acid