HYPOPARATHYROIDISM AS THE MAJOR MANIFESTATION IN 2 PATIENTS WITH 22Q11 DELETIONS

We report on two adolescents with 22q11 deletion. Their main clinical manifestation was chronic symptomatic hypocalcemia secondary to hypopa rathyroidism, together with seizures and cerebral calcifications. Neit her congenital cardiac abnormality nor T cell deficiency were detected . The phenotypic manifestations of the observed patients were consiste nt with velo-cardiofacial syndrome (VCFS). A microdeletion of chromoso me region 22q11 has been demonstrated in approximately 90% of DiGeorge syndrome (DGS) patients and in 75% of VCFS patients; the association of the deletion with a wide spectrum of clinical findings suggests the existence of a contiguous gene syndrome. The presence of certain trai ts of DGS/VCFS should lead to investigations of the parathyroid functi on and molecular analysis of the 22q11 region hybridization studies. ( C) 1994 Wiley-Liss, Inc.