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 thre e triplets and in their father. Two children had the typical DiGeorge sequence with at least three of the four cardinal features: conotrunca l heart disease, hypoplastic thymus and typical facial features. Hypop arathyroidism was present in one of them. The third child had features of both DiGeorge and velo-cardio-facial syndrome (VCFS). The father p resented with features compatible with VCFS. This observation further illustrates the wide variability in expression of a submicroscopic del etion of 22q11, even within one family.