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Article
Nature Genetics  12, 368 - 375 (1996)
doi:10.1038/ng0496-368

Karyotyping human chromosomes by combinatorial multi-fluor FISH

Michael R. Speicher1, 2, Stephen Gwyn Ballard1 & David C. Ward1

  1Departments of Genetics and Molecular Biophysics and Biochemistry, Yale University School of Medicine, 333 Cedar St., New Haven, Connecticut 06510, USA.

  2Correspondence should be addressed to M.R.S.

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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Nature Genetics
ISSN: 1061-4036
EISSN: 1546-1718
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