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Article

Clinical variability of the 22q11.2 duplication syndrome.

European journal of medical genetics - 1 Jan 2000

Wentzel Christian, Fernström Maria, Ohrner Ylva, Annerén Göran, Thuresson Ann-Charlotte

Abstract excerpt

The 22q11.2 duplication syndrome is an extremely variable disorder with a phenotype ranging from normal to learning disability and congenital defects. Both patients with a de novo 22q11.2 duplication and patients in whom the duplication has been inherited from a phenotypically normal parent have been reported. In this study we present two familial cases with a 3Mb 22q11.2 duplication detected by array-CGH. We...

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Identifiers

PMID: 18707033
DOI: 10.1016/j.ejmg.2008.07.005

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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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