title: Hypoparathyroidism as the major manifestation in two patients with 22q11 deletions.
abstract: We report on two adolescents with 22q11 deletion. Their main clinical manifestation was chronic symptomatic hypocalcemia secondary to hypoparathyroidism, together with seizures and cerebral calcifications. Neither congenital cardiac abnormality nor T cell deficiency were detected. The phenotypic manifestations of the observed patients were consistent with velo-cardio-facial syndrome (VCFS). A microdeletion of chromosome 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 traits of DGS/VCFS should lead to investigations of the parathyroid function and molecular analysis of the 22q11 region hybridization studies.
authors.affiliation: Department of Pediatrics, University of Rome Tor Vergata, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Scirè
authors.forename: B
authors.initials: B
authors.lastname: Dallapiccola
authors.forename: P
authors.initials: P
authors.lastname: Iannetti
authors.forename: F
authors.initials: F
authors.lastname: Bonaiuto
authors.forename: C
authors.initials: C
authors.lastname: Galasso
authors.forename: R
authors.initials: R
authors.lastname: Mingarelli
authors.forename: B
authors.initials: B
authors.lastname: Boscherini
mesh_terms: D000293:Adolescent; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D005260:Female; D006801:Humans; D006996:Hypocalcemia / Q000150:complications; D007011:Hypoparathyroidism / Q000150:complications / Q000209:etiology / Q000235:genetics*; D008297:Male; D011247:Pregnancy