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Cytogenetic Techniques

  1. Chih-Lin Hsieh

Published Online: 15 MAR 2011

DOI: 10.1002/9780470015902.a0002650.pub2



How to Cite

Hsieh, C.-L. 2011. Cytogenetic Techniques. eLS. .

Author Information

  1. University of Southern California, Los Angeles, USA

Publication History

  1. Published Online: 15 MAR 2011


Cytogenetics is the study of the genetic material in cells at the light microscopic level, with the goal of achieving optimal resolution for chromosomes or regions of chromosomes on a macrolevel. The traditional techniques of banding allow global analysis of chromosomal structure and have wide applications in clinical diagnosis as well as research. Cytogenetic techniques are gaining in power and usefulness with the development of new detection methods utilising computer technology and molecular tools in the past two decades. The availability of molecular tools has expanded the resolution and capability of cytogenetic analysis. With discovery of genetic changes in various genetic disorders and cancers in the recent years, new developments in molecular cytogenetics provide high-resolution view of specific genomic regions and facilitate rapid clinical diagnosis.

Key Concepts:

  • Conventional cytogenetic techniques apply to the examination of metaphase chromosomes and provide a survey of the global integrity of genetic material in proliferating cells.

  • Molecular cytogenetic techniques facilitate focal analysis of genomic alternations in both dividing and nondividing cells.

  • The conventional and the molecular cytogenetic techniques complement each other to achieve a more complete analysis of the genome, and cannot replace each other at present time.


  • genome;
  • cancer;
  • prenatal diagnosis;
  • genetic disease;
  • gene localisation;
  • chromosomal aberrations;
  • fluorescence in situ hybridisation;
  • comparative genomic hybridisation;
  • array-based comparative genomic hybridisation