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Article

Atypical copy number abnormalities in 22q11.2 region: report of three cases.

European journal of medical genetics - 1 Sept 2013

Molck Miriam Coelho, Vieira Társis Paiva, Sgardioli Ilária Cristina, Simioni Milena, Dos Santos Ana Paula, Souza Josiane, Monteiro Fabíola Paoli, Gil-da-Silva-Lopes Vera Lúcia

Abstract excerpt

The 22q11.2 Deletion Syndrome (22q11.2DS) is the most common microdeletion syndrome in humans, with a highly variable phenotype. This chromosomal region contains low copy repeat (LCR) sequences that mediate non-allelic homologous recombination which predispose to copy number abnormalities at this locus. This article describes three patients investigated for suspicion of 22q11.2DS presenting atypical copy number...

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PMID: 23886712
DOI: 10.1016/j.ejmg.2013.07.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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