Advanced molecular cytogenetics in human and mouse

Kathleen Dorritie, Cristina Montagna, Michael J. Difilippantonio, Thomas Ried

Research output: Contribution to journalReview articlepeer-review

14 Scopus citations


Fluorescence in situ hybridization, spectral karyotyping, multiplex fluorescence in situ hybridization, comparative genomic hybridization, and more recently array comparative genomic hybridization, represent advancements in the field of molecular cytogenetics. The application of these techniques for the analysis of specimens from humans, or mouse models of human diseases, enables one to reliably identify and characterize complex chromosomal rearrangements resulting in alterations of the genome. As each of these techniques has advantages and limitations, a comprehensive analysis of cytogenetic aberrations can be accomplished through the utilization of a combination approach. As such, analyses of specific tumor types have proven invaluable in the identification of new tumor-specific chromosomal aberrations and imbalances (aneuploidy), as well as regions containing tumor-specific gene targets. Application of these techniques has already improved the classification of tumors into distinct categories, with the hope that this will lead to more tailored treatment strategies. These techniques, in particular the application of tumor-specific flourerscense in situ hybridization probes to interphase nuclei, are also powerful tools for the early identification of premalignant lesions.

Original languageEnglish (US)
Pages (from-to)663-676
Number of pages14
JournalExpert Review of Molecular Diagnostics
Issue number5
StatePublished - Sep 2004
Externally publishedYes


  • Array CGH
  • Comparative cytogenetics
  • Comparative genomics
  • Cytogenetic
  • Fluorescent in situ hybridization
  • Fluorochromes
  • Hybridization
  • M-FISH
  • Microarrays
  • Mouse models
  • Multiplex FISH
  • Spectral karyotyping

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Molecular Medicine
  • Molecular Biology
  • Genetics


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