Karyotyping human chromosomes by combinatorial multi-fluor FISH

Nat Genet. 1996 Apr;12(4):368-75. doi: 10.1038/ng0496-368.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Chromosome Aberrations / genetics
  • Chromosomes, Artificial, Yeast
  • Chromosomes, Human / genetics*
  • Chromosomes, Human / ultrastructure
  • DNA Probes
  • Female
  • Fluorescent Dyes
  • Gene Rearrangement
  • Humans
  • Image Processing, Computer-Assisted
  • In Situ Hybridization, Fluorescence / methods*
  • Karyotyping / methods*
  • Male
  • Software
  • Tumor Cells, Cultured


  • DNA Probes
  • Fluorescent Dyes