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Co-existence of other copy number variations with 22q11.2 deletion or duplication: a modifier for variable phenotypes of the syndrome?

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Author(s): Li Deling | Tekin Mustafa | Buch Maria | Fan Yao-Shan

Journal: Molecular Cytogenetics
ISSN 1755-8166

Volume: 5;
Issue: 1;
Start page: 18;
Date: 2012;
Original page

Keywords: DiGeorge syndrome | 22q11.2 microdeletion | 22q11.2 microduplication | Array CGH | Copy number variations (CNVs)

ABSTRACT
Abstract Background The phenotype in patients with a 22q11.2 deletion or duplication can be extremely variable, and the causes of such as variations are not well known. Results We observed additional copy number variations (CNVs) in 2 of 15 cases with a 22q11.2 deletion or duplication. Both cases were newborn babies referred for severe congenital heart defects. The first case had a deletion with a size of approximately 1.56 Mb involving multiple genes including STS in the Xp22.31 region along with a 22q11.2 deletion. The second case had a duplication of 605 kb in the 15q13.3 region encompassing CHRNA7 and a deletion of 209 kb involving the RBFOX1 gene in the 16p13.2 region, in addition to 22q11.2 duplication. Discussion Our observations have shown that additional CNVs are not rare (2/15, 13%) in patients with a 22q11.2 deletion or duplication. We speculate that these CNVs may contribute to phenotype variations of 22q11.2 microdeletion/duplication syndromes as genomic modifiers.
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