Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases.

ABSTRACT:

Background

Array Comparative Genomic Hybridization (a-CGH) is a powerful molecular cytogenetic tool to detect genomic imbalances and study disease mechanism and pathogenesis. We report our experience with the clinical implementation of this high resolution human genome analysis, referred to as Chromosomal Microarray Analysis (CMA).

Methods and findings

CMA was performed clinically on 2513 postnatal samples from patients referred with a variety of clinical phenotypes. The initial 775 samples were studied using CMA array version 4 and the remaining 1738 samples were analyzed with CMA version 5 containing expanded genomic coverage. Overall, CMA identified clinically relevant genomic imbalances in 8.5% of patients: 7.6% using V4 and 8.9% using V5. Among 117 cases referred for ad

SUBMITTER: Lu X 

PROVIDER: S-EPMC1828620 | biostudies-literature | 2007 Mar

REPOSITORIES: biostudies-literature