74. Genetic and functional characterization of complex chromosomal rearrangements in a family with multisystem anomalies

Complex chromosomal rearrangements (CCRs) are rare structural variants which involve three or more chromosomal breakpoints and are usually de novo in most reported cases. Traditional molecular cytogenetics approaches using karyotyping, fluorescence in situ hybridization (FISH) and chromosome microarray analysis (CMA) have been used clinically to diagnose CCRs. However, each of these standard tests has limitations, including low resolution causing difficulty in detecting cryptic rearrangements, imprecise breakpoint mapping, or inability to detect balanced rearrangements.
Source: Cancer Genetics and Cytogenetics - Category: Genetics & Stem Cells Authors: Source Type: research