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Article

Copy number and SNP arrays in clinical diagnostics.

Annual review of genomics and human genetics - 1 Jan 2011

Schaaf Christian P, Wiszniewska Joanna, Beaudet Arthur L

Abstract excerpt

The ability of chromosome microarray analysis (CMA) to detect submicroscopic genetic abnormalities has revolutionized the clinical diagnostic approach to individuals with intellectual disability, neurobehavioral phenotypes, and congenital malformations. The recognition of the underlying copy number variant (CNV) in respective individuals may allow not only for better counseling and anticipatory guidance but also...

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PMID: 21801020
DOI: 10.1146/annurev-genom-092010-110715

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