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

Molecular Cytogenetics

Yao-Shan Fan³  Maria Buch²  Mustafa Tekin¹  Deling Li³ 

[1] John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA;Jackson Memorial Hospital, University of Miami Miller School of Medicine, Miami, FL 33136, USA;Department of Pathology, University of Miami Miller School of Medicine, Miami, FL 33136, USA

关键词: Copy number variations (CNVs);    Array CGH;    22q11.2 microduplication;    22q11.2 microdeletion;    DiGeorge syndrome;   

Others  :  1151543
DOI  :  10.1186/1755-8166-5-18

 received in 2011-12-12, accepted in 2012-04-09,  发布年份 2012

【 摘 要 】

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.

【 授权许可】

   
2012 Li et al; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

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