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Clinical array comparative genomic hybridization: a new paradigm.

Expert Opin Med Diagn

April 2008

Senior Scientist Quest Diagnostics Nichols Institute, Department of Cytogenetics, 33608 Ortega Highway San Juan Capistrano, CA 92675, USA +1 949 728 4805 ; +1 949 728 4979 ;

Background: Although the clinical utility of array comparative genomic hybridization (aCGH) is undisputed, the implementation of this technology is a unique experience for each laboratory.

Objective: Endeavors to construct a bacterial artificial chromosome (BAC)-based CGH microarray targeting microdeletion and duplication syndromes related to mental retardation and developmental delay are described.

Method: Covering each chromosome at the 650-band level, the array comprises 1360 BAC clones with emphasis on the subtelomeric and pericentromeric regions and enrichment of genomic hot spots containing genes associated with specific constitutional disorders.

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