The impact of array genomic hybridization on mental retardation research: A review of current technologies and their clinical utility

Farah Zahir, J. M. Friedman

Research output: Contribution to journalReview article

45 Citations (Scopus)

Abstract

Our understanding of the causes of mental retardation is benefiting greatly from whole-genome scans to detect submicroscopic pathogenic copy number variants (CNVs) that are undetectable by conventional cytogenetic analysis. The current method of choice for performing whole-genome scans for CNVs is array genomic hybridization (AGH). Several platforms are available for AGH, each with its own strengths and limitations. This review discusses considerations that are relevant to the clinical use of whole-genome AGH platforms for the diagnosis of pathogenic CNVs in children with mental retardation. Whole-genome AGH studies are a maturing technology, but their high diagnostic utility assures their increasing use in clinical genetics.

Original languageEnglish
Pages (from-to)271-287
Number of pages17
JournalClinical Genetics
Volume72
Issue number4
DOIs
Publication statusPublished - 1 Oct 2007

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Keywords

  • Array genomic hybridization
  • Comparative genomic hybridization
  • Copy Number Variant Diagnostics
  • Mental retardation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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