ArticleAmerican journal of human genetics2000
An optimized probe set for the detection of small interchromosomal aberrations by use of 24-color FISH.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- The relevance of chromatin architecture to genome rearrangements inPhilosophical transactions of the Royal Society of London. Series B, Biological sciences · 2022Article
- Clinical utility of multiplex ligation-dependent probe amplification technique in identification of aetiology of unexplained mental retardation: a study in 203 Indian patients.The Indian journal of medical research · 2014Article
- Integration site analysis in transgenic mice by thermal asymmetric interlaced (TAIL)-PCR: segregating multiple-integrant founder lines and determining zygosity.Transgenic research · 2008Article
- Micro-array analyses decipher exceptional complex familial chromosomal rearrangement.Human genetics · 2006Article
- Securin is not required for chromosomal stability in human cells.PLoS biology · 2005Article
- Microscopy and image analysis.Current protocols in human genetics · 2005Article
- Three-dimensional maps of all chromosomes in human male fibroblast nuclei and prometaphase rosettes.PLoS biology · 2005Article
- Generation of chromosome painting probes from single chromosomes by laser microdissection and linker-adaptor PCR.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2004Article
- Multicolor chromosome painting in diagnostic and research applications.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2004Review
- A multicolor FISH assay does not detect DUP25 in control individuals or in reported positive control cells.American journal of human genetics · 2003Article
- Multicolor deconvolution microscopy of thick biological specimens.The American journal of pathology · 2003Article
- Karyotyping mouse chromosomes by multiplex-FISH (M-FISH).Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2001Article
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
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.
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