Submicroscopic deletion in chromosome 22q11 in trizygous triplet siblings and their father. Clinical variability of 22q11 deletion

Clinical Genetics
K DevriendtJ P Fryns

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.

References

Sep 1, 1987·British Heart Journal·P MoermanL G Van der Hauwaert
May 1, 1983·American Journal of Diseases of Children·J D MillerH J Guyda
Jan 1, 1995·European Journal of Pediatrics·M de MartinoA Vierucci
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Sep 1, 1995·Journal of Medical Genetics·J GoodshipJ Burn

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Citations

Sep 24, 1999·American Journal of Medical Genetics·E CohenA S Bassett
May 11, 2000·Pediatrics International : Official Journal of the Japan Pediatric Society·T AkibaN Yazaki
Nov 29, 2002·American Journal of Medical Genetics·Arabella SmithLisa Robson

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