Loss of Heterozygosity using High Resolution SNP Microarray Analysis in 117 Patients Referred for Cytogenetic Analysis and Impact on Clinical Practice.

2 Background: Microarray genome analysis is realising its promise for improving detection of genetic abnormalities in individuals with mental retardation (MR) and congenital abnormality. Copy number variations (CNVs) are now readily detectable using a variety of platforms and a major challenge is the distinction of pathogenic from ubiquitous, benign polymorphic CNVs. The aim of this study was to investigate replacement of time-consuming, locus-specific testing for specific microdeletion and microduplication syndromes with microarray analysis, which theoretically should detect all known syndromes with CNV etiologies as well as new ones