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Article

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

Internal medicine journal - 1 Jan 2011

Cao Z, Yu R, Dun K, Burke J, Caplin N, Greenaway T

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21265963
DOI: 10.1111/j.1445-5994.2010.02374.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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