Molecular cytometry applied to detection and characterization of disease-linked chromosome aberrations

Flow karyotyping and FISH with chromosome-specific or disease locus-specific probes are powerful adjuncts to conventional cytogenetic analysis. Flow karyotyping is well suited to quantitative analysis of the DNA content changes that occur during structural rearrangement. FISH with probes for repeated sequences allows ready detection of aneuploidy in interphase cells. FISH with whole-chromosome composite probes to metaphase spreads facilitates detection of subtle structural changes and allows detection of structural aberrations that occur at frequencies as low as 10(-3). FISH with locus-specific probes facilitates diagnosis of specific genetic diseases, may allow phenotype-genotype correlation on a cell by cell basis and will permit sensitive detection of residual disease.