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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Published:2012-04-09
Issue:1
Volume:5
Page:
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ISSN:1755-8166
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Container-title:Molecular Cytogenetics
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language:en
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Short-container-title:Mol Cytogenet
Author:
Li Deling,Tekin Mustafa,Buch Maria,Fan Yao-Shan
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.
Publisher
Springer Science and Business Media LLC
Subject
Biochemistry, medical,Genetics(clinical),Genetics,Molecular Biology,Molecular Medicine,Biochemistry
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