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Genetic Toxicology, Oncogenesis, Developmental and Reproductive Toxicology

  1. Diana Anderson BSc, MSc, PhD, DipEd, FIBiol, FATS, FRCPath, FIFST, FBTS, HEAF1,
  2. Adolf Baumgartner BSc, MSc, PhD2,
  3. Eduardo Cemeli BSc, PhD2

Published Online: 15 DEC 2009

DOI: 10.1002/9780470744307.gat075

General, Applied and Systems Toxicology

General, Applied and Systems Toxicology

How to Cite

Anderson, D., Baumgartner, A. and Cemeli, E. 2009. Cytogenetics. General, Applied and Systems Toxicology. .

Author Information

  1. 1

    University of Bradford, Established Chair of Biomedical Sciences, Department of Biomedical Sciences, Bradford, West Yorkshire, UK

  2. 2

    University of Bradford, Department of Biomedical Sciences, Bradford, West Yorkshire, UK

Publication History

  1. Published Online: 15 DEC 2009


Various types of cytogenetic change can be detected in chromosomes, including structural chromosome aberrations, aneuploidy or sister chromatid exchanges. Chromosome aberration assays are used to detect chromosome damage (clastogenesis) in somatic and germinal cells by direct observation during metaphase analysis, or by indirect observation of micronuclei. Aberrations are mostly lethal to the cell during the cell cycle following their induction; they also indicate a potential to induce more subtle and transmissible chromosomal damage which survives cell division, producing heritable cytogenetic changes. Cytogenetic damage is usually accompanied by gene mutation. Structural and numerical abnormalities in somatic cells are involved in the aetiology of neoplasia, while in germ cells they can lead to perinatal mortality, dominant lethality or congenital malformations in the offspring. Over 80% of all structural aberrations in humans occur de novo and are of paternal origin. This chapter addresses the different cytogenetic changes and assays which measure gross chromosomal damage in human somatic and germ cells in vitro and in vivo, as well as regulatory requirements for measuring them. Also to be considered are the growing importance of modern molecular cytogenetics, the Human Genome project and the awakening awareness of epigenetics as a biological concern.


  • cytogenetics;
  • in vivo assays;
  • in vitro assays;
  • chromosome aberration;
  • micronuclei;
  • sister chromatid exchanges;
  • human genome;
  • molecular cytogenetics;
  • epigenetics