Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities.

ABSTRACT: Microdeletions and microduplications, not visible by routine chromosome analysis, are a major cause of human malformation and mental retardation. Novel high-resolution, whole-genome technologies can improve the diagnostic detection rate of these small chromosomal abnormalities. Array-based comparative genomic hybridization allows such a high-resolution screening by hybridizing differentially labeled test and reference DNAs to arrays consisting of thousands of genomic clones. In this study, we tested the diagnostic capacity of this technology using approximately 3,500 flourescent in situ hybridization-verified clones selected to cover the genome with an average of 1 clone per megabase (Mb). The sensitivity and specificity of the technology were tested in normal-versus-normal control experim

SUBMITTER: Vissers LE 

PROVIDER: S-EPMC1180392 | biostudies-literature | 2003 Dec

REPOSITORIES: biostudies-literature