Literature DB >> 10631928

Hypocalcemia and chromosome 22q11 microdeletion.

M Garabédian1.   

Abstract

This review of the diagnosis, causes, prevention and treatment of hypocalcemia emphasizes the high incidence of this biological alteration in patients with 22q11 microdeletion. It also points out its large spectrum of presentation, from cases where the most prominent feature of the syndrome is hypocalcemia with hypoparathyroidism, to cases with asymptomatic, latent or late-onset hypocalcemia. Hence, the advice to perform genetic analysis of the 22q11 region in patients with late-onset or recurrent hypoparathyroidism and to systematically include serum calcium in the survey of patients with known 22q11 microdeletion, especially during infancy, adolescence and pregnancy and especially during cardiac surgery or sepsis.

Entities:  

Mesh:

Year:  1999        PMID: 10631928

Source DB:  PubMed          Journal:  Genet Couns        ISSN: 1015-8146


  2 in total

1.  Characteristics of 22q 11.2 deletion syndrome undiagnosed until adulthood: an example suggesting the importance of psychiatric manifestations.

Authors:  Kenta Furuya; Yosuke Sasaki; Taizo Takeuchi; Yoshihisa Urita
Journal:  BMJ Case Rep       Date:  2015-06-08

2.  A patient with 22q11.2 deletion syndrome: case report.

Authors:  Sema Kabataş Eryılmaz; Firdevs Baş; Ali Satan; Feyza Darendeliler; Rüveyde Bundak; Hülya Günöz; Nurçin Saka
Journal:  J Clin Res Pediatr Endocrinol       Date:  2009-02-06
  2 in total

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