Submicroscopic deletion in chromosome 22q11 in trizygous triplet siblings and their father. Clinical variability of 22q11 deletion.
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.
Devriendt
K
K
Center for Human Genetics, University Hospital Leuven, Belgium.
Van Hoestenberghe
R
R
Van Hole
C
C
Devlieger
H
H
Gewillig
M
M
Moerman
P
P
Van den Berghe
H
H
Fryns
J P
JP
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