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Oligonucleotide microarrays for clinical diagnosis of copy number variation.

Current protocols in human genetics - 1 Jul 2008

Miller David T, Shen Yiping, Wu Bai-Lin

Abstract excerpt

Detection of genomic copy number variation is now considered the standard of care in the evaluation of children with developmental delay, and is used for other clinical indications such as multiple congenital anomalies and autism spectrum disorders. Fluorescence in situ hybridization (FISH) was the first molecular method for detection of submicroscopic genomic copy number variation, but microarray based...

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PMID: 18633976
DOI: 10.1002/0471142905.hg0812s58

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