Hypoparathyroidism as the major manifestation in two patients with 22q11 deletions

G. Scire, B. Dallapiccola, P. Iannetti, F. Bonaiuto, C. Galasso, R. Mingarelli, B. Boscherini

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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.

Original languageEnglish
Pages (from-to)478-482
Number of pages5
JournalAmerican Journal of Medical Genetics
Issue number4
Publication statusPublished - 1994


  • CATCH 22
  • DiGeorge syndrome
  • hypoparathyroidism
  • monosomy 22q11
  • velo-cardio-facial syndrome

ASJC Scopus subject areas

  • Genetics(clinical)


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