Detection of single clone deletions using array CGH: Identification of submicroscopic deletions in the 22q11.2 deletion syndrome as a model system

Taku A. Tokuyasu, Philip D. Cotter, Richard Segraves, Jeffrey Harris, Melissa E. Elder, Marcos Gonzales, Daniel Pinkel, Donna G. Albertson, Katherine A Rauen

Research output: Contribution to journalArticle

3 Scopus citations

Abstract

Constitutional submicroscopic DNA copy number alterations have been shown to cause numerous medical genetic syndromes, and are suspected to occur in a portion of cases for which the causal events remain undiscovered. Array comparative genomic hybridization (array CGH) allows high-throughput, high-resolution genome scanning for DNA dosage aberrations and thus offers an attractive approach for both clinical diagnosis and discovery efforts. Here we assess this capability by applying array CGH to the analysis of copy number alterations in 44 patients with a phenotype of the 22q11.2 deletion syndrome. Twenty-five patients had the deletion on chromosome 22 characteristic of this syndrome as determined by fluorescence in situ hybridization (FISH). The array measurements were in complete concordance with the FISH analysis, supporting their diagnostic utility. These data show that a genome-scanning microarray has the level of sensitivity and specificity required to prospectively interrogate and identify single copy number aberrations in a clinical setting. We demonstrate that such technology is ideally suited for microdeletion syndromes such as 22q11.2.

Original languageEnglish (US)
Pages (from-to)925-932
Number of pages8
JournalAmerican Journal of Medical Genetics, Part A
Volume143
Issue number9
DOIs
StatePublished - May 1 2007
Externally publishedYes

Keywords

  • 22q11.2 deletion syndrome
  • Array CGH
  • Array comparative genomic hybridization
  • Chromosome 22q
  • Genome-wide scan
  • Polymorphism
  • Submicroscopic deletion syndrome

ASJC Scopus subject areas

  • Genetics(clinical)

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