Cytogenetic nomenclature

Sverre Heim, Felix Mitelman

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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.

Titel på värdpublikationCancer Cytogenetics
Undertitel på värdpublikationChromosomal and Molecular Genetic Aberrations of Tumor Cells,
RedaktörerSverre Heim, Felix Mitelman
Antal sidor7
ISBN (elektroniskt)9781118795569
ISBN (tryckt)9781118795538
StatusPublished - 2015

Ämnesklassifikation (UKÄ)

  • Medicinsk genetik


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