Deletion of chromosome 22q11 and pseudohypoparathyroidism

William J. Craigen, Elizabeth A. Lindsay, J. T. Bricker, Edith P. Hawkins, Antonio Baldini

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

A newborn boy with complex congenital heart disease, unilateral renal agenesis, and hypocalcemia was found to have a submicroscopic deletion of 22q11.2 (DiGeorge anomaly). In evaluating the pathogenesis of the hypocalcemia, repeatedly elevated or normal levels of parathyroid hormone were found, consistent with a diagnosis of pseudohypoparathyroidism. Pseudohypoparathyroidism can be due to mutation of a GTP binding protein (Gs- α protein) located on chromosome 20. Since there is another G protein locus (Gz alpha) adjacent to the DiGeorge critical region of chromosome 22, we hypothesized that a more extensive deletion may lead to pseudohypoparathyroidism. Fluorescence in situ hybridization was performed using a probe containing the Gz alpha gene, but no deletion was detected. This patient emphasizes the importance of determining the pathogenesis of the hypocalcemia in cases of DiGeorge anomaly.

Original languageEnglish
Pages (from-to)63-65
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume72
Issue number1
DOIs
Publication statusPublished - Oct 3 1997

Fingerprint

Pseudohypoparathyroidism
Chromosome Deletion
Hypocalcemia
DiGeorge Syndrome
GTP-Binding Proteins
Chromosomes, Human, Pair 20
Chromosomes, Human, Pair 22
Gene Deletion
Parathyroid Hormone
Fluorescence In Situ Hybridization
Heart Diseases
Newborn Infant
Mutation
Proteins

Keywords

  • DiGeorge anomaly
  • Hypocalcemia
  • Pseudohypoparathyroidism

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Deletion of chromosome 22q11 and pseudohypoparathyroidism. / Craigen, William J.; Lindsay, Elizabeth A.; Bricker, J. T.; Hawkins, Edith P.; Baldini, Antonio.

In: American Journal of Medical Genetics, Vol. 72, No. 1, 03.10.1997, p. 63-65.

Research output: Contribution to journalArticle

Craigen, William J. ; Lindsay, Elizabeth A. ; Bricker, J. T. ; Hawkins, Edith P. ; Baldini, Antonio. / Deletion of chromosome 22q11 and pseudohypoparathyroidism. In: American Journal of Medical Genetics. 1997 ; Vol. 72, No. 1. pp. 63-65.
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