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

• Main Authors: Li Deling, Tekin Mustafa, Buch Maria, Fan Yao-Shan
• Format: Article
• Language: English
• Published: BMC 2012-04-01
• Series: Molecular Cytogenetics
• Subjects: DiGeorge syndrome; 22q11.2 microdeletion; 22q11.2 microduplication; Array CGH; Copy number variations (CNVs)
• Online Access: http://www.molecularcytogenetics.org/content/5/1/18

<p>Abstract</p> <p>Background</p> <p>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.</p> <p>Results</p> <p>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 <it>STS </it>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 <it>CHRNA7 </it>and a deletion of 209 kb involving the <it>RBFOX1 </it>gene in the 16p13.2 region, in addition to 22q11.2 duplication.</p> <p>Discussion</p> <p>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.</p>