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

Deling Li, Mustafa Tekin, Maria M Buch, Yao Shan Fan

Research output: Contribution to journalArticle

10 Scopus citations

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.

Original languageEnglish (US)
Article number18
JournalMolecular Cytogenetics
Volume5
Issue number1
DOIs
StatePublished - Apr 10 2012

Keywords

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

ASJC Scopus subject areas

  • Genetics
  • Molecular Biology
  • Genetics(clinical)
  • Biochemistry
  • Molecular Medicine
  • Biochemistry, medical

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