An optimized probe set for the detection of small interchromosomal aberrations by use of 24-color FISH

Am J Hum Genet. 2000 May;66(5):1684-8. doi: 10.1086/302875. Epub 2000 Apr 4.


The rapid spread of the use of new 24-color karyotyping techniques has preceded their standardization. This is best documented by the fact that the exact resolution limits have not yet been defined. Indeed, it is shown here that a substantial proportion of interchromosomal aberrations will be missed by all multicolor karyotyping systems currently in use. We demonstrate that both the sensitivity and the specificity of 24-color karyotyping critically depend on the fluorochrome composition of chromosomes involved in an interchromosomal rearrangement. As a solution, we introduce a conceptual change in probe labeling. Seven-fluorochrome sets that overcome many of the current limitations are described, and examples of their applications are shown. The criteria presented here for an optimized probe-set design and for the estimation of resolution limits should have important consequences for pre- and postnatal diagnostics and for research applications.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Aberrations / genetics*
  • Chromosome Banding / methods
  • Color*
  • DNA Probes / genetics
  • DNA Probes / metabolism*
  • Female
  • Fluorescent Dyes / metabolism*
  • Humans
  • In Situ Hybridization, Fluorescence / methods*
  • Indoles / metabolism
  • Karyotyping / methods*
  • Male
  • Sensitivity and Specificity
  • Translocation, Genetic / genetics


  • DNA Probes
  • Fluorescent Dyes
  • Indoles
  • DAPI