title: An optimized probe set for the detection of small interchromosomal aberrations by use of 24-color FISH.
abstract: 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.
authors.affiliation: Institut für Anthropologie und Humangenetik, Ludwig-Maximilians-Universität München, Munich, Germany.
authors.forename: J
authors.initials: J
authors.lastname: Azofeifa
authors.forename: C
authors.initials: C
authors.lastname: Fauth
authors.forename: J
authors.initials: J
authors.lastname: Kraus
authors.forename: C
authors.initials: C
authors.lastname: Maierhofer
authors.forename: S
authors.initials: S
authors.lastname: Langer
authors.forename: A
authors.initials: A
authors.lastname: Bolzer
authors.forename: J
authors.initials: J
authors.lastname: Reichman
authors.forename: S
authors.initials: S
authors.lastname: Schuffenhauer
authors.forename: M R
authors.initials: MR
authors.lastname: Speicher
mesh_terms: D002869:Chromosome Aberrations / Q000235:genetics*; D002871:Chromosome Banding / Q000379:methods; D003116:Color; D015342:DNA Probes / Q000235:genetics / Q000378:metabolism*; D005260:Female; D005456:Fluorescent Dyes / Q000378:metabolism*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007211:Indoles / Q000378:metabolism; D007621:Karyotyping / Q000379:methods*; D008297:Male; D012680:Sensitivity and Specificity; D014178:Translocation, Genetic / Q000235:genetics
chemical_list: D015342:DNA Probes; D005456:Fluorescent Dyes; D007211:Indoles; C007293:DAPI