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22q11.2 deletion presenting with severe hypocalcaemia, seizure and basal ganglia calcification in an adult man

Citation

Cao, Z and Yu, R and Dun, K and Burke, J and Caplin, N and Greenaway, T, 22q11.2 deletion presenting with severe hypocalcaemia, seizure and basal ganglia calcification in an adult man, Internal Medicine Journal, 41, (1 A) pp. 63-66. ISSN 1444-0903 (2011) [Refereed Article]

Copyright Statement

Copyright 2011 The Authors

DOI: doi:10.1111/j.1445-5994.2010.02374.x

Abstract

We report a 40-year-old man who was found to have profound hypocalcaemia and hypoparathyroidism when investigated for multiple, generalized, tonic/clonic seizures and a chest infection. Computed tomography scan of the brain revealed extensive symmetric bilateral calcification within the cerebellum, thalamus and basal ganglia. Molecular cytogenetic testing by fluorescent in situ hybridization using the commercial Vysis LSI DiGeorge/VCFS dual colour probe set showed a deletion of 22q11.2. The extraordinary feature of this case is the adult presentation of hypocalcaemia, hypoparathyroidism and basal ganglia calcification due to 22q11.2 deletion.

Item Details

Item Type:Refereed Article
Keywords:22q11.2 deletion, hypocalcaemia, seizure,basal ganglia calcification, adult
Research Division:Medical and Health Sciences
Research Group:Clinical Sciences
Research Field:Endocrinology
Objective Division:Health
Objective Group:Clinical Health (Organs, Diseases and Abnormal Conditions)
Objective Field:Diabetes
Author:Burke, J (Dr Jo Burke)
Author:Greenaway, T (Dr Tim Greenaway)
ID Code:119333
Year Published:2011
Web of Science® Times Cited:5
Deposited By:Medicine (Discipline)
Deposited On:2017-07-31
Last Modified:2017-10-12
Downloads:0

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