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

Authors


Farah Zahir, Medical Genetics Research Unit, Department of Medical Genetics, University of British Columbia, Children’s and Women’s Hospital, PO BOX 153, 4500 Oak Street, Vancouver, BC, Canada V6H 3N1.
Tel.: +604 875 2000x5624;
fax: +604 875 3019;
e-mail: farahz@interchange.ubc.ca

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.

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