Extending the scope of diagnostic chromosome analysis: Detection of single gene defects using high-resolution SNP microarrays

摘要: Microarray analysis has provided significant advances in the diagnosis of conditions resulting from submicroscopic chromosome abnormalities. It been recommended that array testing should be a "first tier" test evaluation individuals with intellectual disability, developmental delay, congenital anomalies, and autism. The availability arrays increasingly high probe coverage resolution increased detection decreasingly small copy number changes (CNCs) down to intragenic or even exon level. Importantly, genotype SNPs also detect extended regions homozygosity. We describe 14 examples single gene disorders caused by consecutive set 6,500 tests using high-resolution SNP microarrays. These cases illustrate scope cytogenetic beyond dominant rearrangements typically contain many genes. Nine confirmed clinical diagnosis, is, followed "phenotype genotype" approach. Five were diagnosed laboratory absence specific "genotype phenotype" Two clinically significant, incidental findings. importance astute assessment laboratory-clinician consultation is emphasized optimize value microarrays sequence mutations.