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dc.creatorAzofeifa Navas, Jorge
dc.creatorFauth, Christine
dc.creatorKraus, Jürgen
dc.creatorMaierhofer, Christine
dc.creatorLanger, Sabine
dc.creatorBolzer, Andreas
dc.creatorReichman, Jay
dc.creatorSchuffenhauer, Simone
dc.creatorSpeicher, Michael R.
dc.date.accessioned2015-05-25T20:12:12Z
dc.date.available2015-05-25T20:12:12Z
dc.date.issued2000
dc.identifier.citationhttp://www.cell.com/ajhg/abstract/S0002-9297%2807%2962998-X
dc.identifier.citationhttp://www.sciencedirect.com/science/article/pii/S000292970762998Xes_ES
dc.identifier.urihttp://hdl.handle.net/10669/13325
dc.descriptionReporte -- Universidad de Costa Rica, Instituto de Investigaciones en Salud. 2000es_ES
dc.description.abstractThe 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 preand postnatal diagnostics and for research applications.es_ES
dc.description.sponsorshipUniversidad de Costa Rica. Instituto de Investigaciones en Saludes_ES
dc.language.isoen_USes_ES
dc.sourceAmerican Journal Human Genetic, 2000, 66(5): 1684-1688es_ES
dc.subject24-color karyotypinges_ES
dc.subjectpostnatal diagnosticses_ES
dc.subjectaberraciones cromosómicases_ES
dc.subjectautosome abnormalitieses_ES
dc.subjectcariotipificaciónes_ES
dc.subjectcytogenetic aberrationses_ES
dc.titleAn optimized probe set for the detection of small Interchromosomal aberrations by use of 24- color FISHes_ES
dc.typeinfo:eu-repo/semantics/reportes_ES
dc.typeReporte técnicoes_ES
dc.identifier.doidoi:10.1086/302875
dc.description.procedenceUCR::Vicerrectoría de Investigación::Unidades de Investigación::Ciencias de la Salud::Instituto de Investigaciones en Salud (INISA)es_ES


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