Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2009;1(3):151-4.
doi: 10.4008/jcrpe.v1i3.46. Epub 2009 Feb 6.

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

Sema Kabataş Eryılmaz  1 , Firdevs Baş, Ali Satan, Feyza Darendeliler, Rüveyde Bundak, Hülya Günöz, Nurçin Saka
Affiliations
Case Reports

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

Sema Kabataş Eryılmaz et al. J Clin Res Pediatr Endocrinol. 2009.

Abstract

22q11 deletion is one of the most frequently encountered genetic syndromes. The phenotypic spectrum shows a wide variability. We report a boy who presented at age 11.9 years with seizures due to hypocalcemia as a result of hypoparathyroidism. FISH analysis revealed a heterozygote deletion at 22q11.2. Positive findings for the syndrome were delayed speech development due to velofacial dysfunction, recurrent croup attacks in early childhood due to latent hypocalcemia and mild dysmorphic features. The findings of this patient indicate that 22q11 deletion syndrome may present with a wide spectrum of clinical findings and that this diagnosis needs to be considered even in patients of older ages presenting with hypocalcemia.

Keywords: 22q11.2 deletion syndrome; hypocalcemia; hypoparathyroidism.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

References

    1. Scambler PJ. The 22q11.2 deletion syndromes. Hum Mol Genet. 2000;9:2421–2426. - PubMed
    1. Shprintzen RJ, Goldberg RB, Lewin ML, Sidoti EJ, Berkman MD, Argamaso RV, Young D. A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo−cardiofacial syndrome. Cleft Palate J. 1978;15:56–62. - PubMed
    1. Shprintzen RJ. Velo−cardio−facial syndrome. In: Cassidy SB, Allanson J, editors. Management of genetic syndromes. New York: Wiley; 2004. pp. 615–632.
    1. Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer S, Oechsler H, Belohradsky B, Prieur M, Aurias A, Raymond FL, Clayton−Smith J, Hatchwell E, McKeown C, Beemer FA, Dallapiccola B, Novelli G, Hurst JA, Ignatius J, Green AJ, Winter RM, Brueton L, Brøndum−Nielsen K, Scrambler PJ. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet. 1997;34:798–804. - PMC - PubMed
    1. Garabedian M. Hypocalcemia and choromosome 22q11 microdeletion. Genet Couns. 1999;10:389–394. - PubMed

Publication types

Supplementary concepts

LinkOut - more resources