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Karyotyping human chromosomes by combinatorial multi-fluor FISH

Abstract

We have developed epifluorescence filter sets and computer software for the detection and discrimination of 27 different DNA probes hybridized simultaneously. For karyotype analysis, a pool of human chromosome painting probes, each labelled with a different fluor combination, was hybridized to metaphase chromosomes prepared from normal cells, clinical specimens, and neoplastic cell lines. Both simple and complex chromosomal rearrangements could be detected rapidly and unequivocally; many of the more complex chromosomal abnormalities could not be delineated by conventional cytogenetic banding techniques. Our data suggest that multiplex-fluorescence in situ hybridization (M-FISH) could have wide clinical utility and complement standard cytogenetics, particularly for the characterization of complex karyotypes.

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Speicher, M., Ballard, S. & Ward, D. Karyotyping human chromosomes by combinatorial multi-fluor FISH. Nat Genet 12, 368–375 (1996). https://doi.org/10.1038/ng0496-368

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