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Deletion of chromosome 22q11 and pseudohypoparathyroidism

✍ Scribed by Craigen, William J.; Lindsay, Elizabeth A.; Bricker, J. Timothy; Hawkins, Edith P.; Baldini, Antonio

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 5 KB
Volume: 72
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19971003)72:1<63::aid-ajmg13>3.0.co;2-s

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✦ Synopsis

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-alpha 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.

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