Analytical approaches 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 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, allows phenotype-genotype correlation on a cell-by-cell basis and may be developed into a sensitive method for detection of residual disease.


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@article{Gray1990AnalyticalAT, title={Analytical approaches to detection and characterization of disease-linked chromosome aberrations.}, author={J. W. Gray and W L Kuo and J . C . Liang and Donald P. Pinkel and Gerrit J. Van den Engh and Barbara J. Trask and Douglas C Tkachuk and Frederic M. Waldman and Carol A. Westbrook}, journal={Bone marrow transplantation}, year={1990}, volume={6 Suppl 1}, pages={14-9} }