Cytogenetic Techniques


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.

Keywords: genome; cancer; prenatal diagnosis; genetic disease; gene localisation; chromosomal aberrations; fluorescence in situ hybridisation; comparative genomic hybridisation; array‐based comparative genomic hybridisation

Further Reading

Bejjani BA and Shaffer LG (2008) Clinical utility of contemporary molecular cytogenetics. Annual Review of Genomics and Human Genetics 9: 71–86.

Forozan F, Karhu R, Kononen J, Kallioniemi A and Kallioniemi OP (1997) Genome screening by comparative genomic hybridization. Trends in Genetics 13: 405–409.

Handyside AH and Ogilvie CM (1999) Screening oocytes and preimplantation embryos for aneuploidy. Current Opinion in Obstetrics and Gynecology 11: 301–305.

Herrick J and Bensimon A (1999) Imaging of single DNA molecule: applications to high‐resolution genomic studies. Chromosome Research 7: 409–423.

James LA (1999) Comparative genomic hybridization as a tool in tumour cytogenetics. Journal of Pathology 187: 385–395.

Korf BR (2001) Overview of clinical cytogenetics. Current Protocols in Human Genetics. Chapter 8: Unit 8.1.

Li MM and Andersson HC (2009) Clinical application of microarray‐based molecular cytogenetics: an emerging new era of genomic medicine. Journal of Pediatrics 155: 311–317.

Lichter P (1997) Multicolor FISHing: what's the catch? Trends in Genetics 13: 475–479.

Raap AK (1998) Advances in fluorescence in situ hybridization. Mutation Research 400: 287–298.

Rooney DE and Czepulkowski BH (1992) Human Cytogenetics, 2nd edn. New York: Oxford University Press.

Shaffer LG and Tommerup N (eds) ISCN (2005) An International System for Human Cytogenetic Nomenclature. Basel: S. Karger.

Speicher MR and Ward DC (1996) The coloring of cytogenetics. Nature Medicine 2: 1046–1048.

Sumner AT (1990) Chromosome Banding. London: Unwin Hyman.

Vorsanova SG, Yurov YB and Iourov Y (2010) Human interphase chromosomes: a review of available molecular cytogenetic technologies. Molecular Cytogenetics 3: 1.

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How to Cite close
Hsieh, Chih‐Lin(Mar 2011) Cytogenetic Techniques. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0002650.pub2]