Cytogenetic nomenclature

Sverre Heim, Felix Mitelman

    Research output: Chapter in Book/Report/Conference proceedingChapter


    This chapter elaborates on human chromosome nomenclature. It provides a brief summary of the most essential cytogenetic terminology related to the description of chromosome aberrations in neoplastic cells. The chapter outlines criteria for designation of regions and bands for chromosome nomenclature. Regions and bands are numbered consecutively from the centromere outward along each chromosome arm. This chapter outlines guidelines and conventions foy karyotypic nomenclature. It provides a detailed account on nomenclature of tumor cell populations. The introduction of various in situ hybridization technologies into the cytogenetic analysis of interphase and metaphase cells has led the International Standing Committee on Human Cytogenetic Nomenclature to propose an in situ hybridization (ish) nomenclature system that may be used to describe abnormalities at the molecular level by indicating, for example, the presence, absence, amplification, or separation of specific probe signals.

    Original languageEnglish (US)
    Title of host publicationCancer Cytogenetics
    Subtitle of host publicationFourth Edition
    Number of pages7
    ISBN (Electronic)9781118795569
    ISBN (Print)9781118795538
    StatePublished - Jun 26 2015


    • Chromosome nomenclature
    • Cytogenetic nomenclature
    • In situ hybridization technologies
    • Karyotypic nomenclature

    ASJC Scopus subject areas

    • Medicine(all)

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  • Cite this

    Heim, S., & Mitelman, F. (2015). Cytogenetic nomenclature. In Cancer Cytogenetics: Fourth Edition (pp. 19-25). Wiley-Blackwell.