title: Submicroscopic deletion in chromosome 22q11 in trizygous triplet siblings and their father. Clinical variability of 22q11 deletion.
abstract: A submicroscopic deletion of chromosome 22q11 was demonstrated in three triplets and in their father. Two children had the typical DiGeorge sequence with at least three of the four cardinal features: conotruncal heart disease, hypoplastic thymus and typical facial features. Hypoparathyroidism was present in one of them. The third child had features of both DiGeorge and velo-cardio-facial syndrome (VCFS). The father presented with features compatible with VCFS. This observation further illustrates the wide variability in expression of a submicroscopic deletion of 22q11, even within one family.
authors.affiliation: Center for Human Genetics, University Hospital Leuven, Belgium.
authors.forename: K
authors.initials: K
authors.lastname: Devriendt
authors.forename: R
authors.initials: R
authors.lastname: Van Hoestenberghe
authors.forename: C
authors.initials: C
authors.lastname: Van Hole
authors.forename: H
authors.initials: H
authors.lastname: Devlieger
authors.forename: M
authors.initials: M
authors.lastname: Gewillig
authors.forename: P
authors.initials: P
authors.lastname: Moerman
authors.forename: H
authors.initials: H
authors.lastname: Van den Berghe
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000235:genetics*; D005220:Fathers; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome; D014310:Triplets