Abstract:Microarray‐based comparative genomic hybridization (CGH) has made a significant impact on the ability to diagnose human constitutional disease by detecting genomic copy number changes that were previously undetectable by other types of cytogenetic and molecular technologies. Not only can hundreds of well‐characterized genetic syndromes be detected in a single assay, but new genomic disorders and disease‐causing genes are also being discovered through the utilization of this technology. Clinical implementation … Show more
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