Chromosome Analysis and Identification


Chromosome analysis of human cells is used to identify aberrations of chromosome number and structure. These are associated with developmental or reproductive abnormalities and cancer. Analysis usually involves an examination of stained chromosomes in dividing cells under the light microscope. Individual chromosomes can be identified by morphological characteristics and staining patterns.

Keywords: chromosome; cytogenetics; karyotype; aberrations; trisomy

Figure 1.

Spread of metaphase chromosomes from human lymphocytes after a chromosome banding procedure.

Figure 2.

Karyotype of a normal human male cell prepared from the metaphase spread in Figure .

Figure 3.

Karyotype from a triploid cell from a miscarried fetus.

Figure 4.

Karyotype of a cell from a patient with trisomy 18.

Figure 5.

Karyotype of a cell with a balanced translocation between one arm of chromosome 1 and one arm of chromosome 16.

Figure 6.

Interphase nucleus after FISH using a probe specific for chromosome 21 (in red) and for chromosome 13 (in green). Two copies of each chromosome are seen, indicating that there is no trisomy for these chromosomes.


Further Reading

Gardner RJM and Sutherland GR (2002) Chromosome Abnormalities and Genetic Counseling. Oxford, UK: Oxford University Press.

Gersen S and Keagle MB (1999) The Principles of Clinical Cytogenetics. Clifton, NJ: Human Press.

Jorde LB, Carey JC, Bamshad MJ and White LW (1999) Clinical cytogenetics. chap. 6, pp. 108–135. St Louis, MO: Mosby Publishing Company.

Mark HFL (ed.) (2000) Medical Cytogenetics. New York, NY: Marcel Dekker, Incorporated.

Miller OJ and Therman E (2001) Human Chromosomes. New York, NY: Springer‐Verlag.

Nussbaum RL, Roderick R, McInnes R and Willard H (2001) Clinical cytogenetics. Thompson and Thompson Genetics in Medicine, pp. 157–179. New York, NY: WB Saunders Company.

Rooney DE (2001) Human Cytogenetics: Constitutional Analysis. 3rd edn. New York, NY: Oxford University Press.

Web Links

Cytogenetics Gallery. University of Washington, Seattle, Department of Pathology Cytogenetics Image Gallery

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Warburton, Dorothy(Jan 2006) Chromosome Analysis and Identification. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0005775]