Chromosome Analysis and Identification

Dorothy Warburton, Columbia University, New York, USA

Published online: January 2006

DOI: 10.1038/npg.els.0005775

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 1.
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.
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 Further Reading
    book Gardner RJM and Sutherland GR (2002) Chromosome Abnormalities and Genetic Counseling. Oxford, UK: Oxford University Press.
    book Gersen S and Keagle MB (1999) The Principles of Clinical Cytogenetics. Clifton, NJ: Human Press.
    book Jorde LB, Carey JC, Bamshad MJ and White LW (1999) Clinical cytogenetics. "chap. 6", pp. 108–135. St Louis, MO: Mosby Publishing Company.
    book Mark HFL (ed.) (2000) Medical Cytogenetics. New York, NY: Marcel Dekker, Incorporated.
    book Miller OJ and Therman E (2001) Human Chromosomes. New York, NY: Springer-Verlag.
    book 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.
    book Rooney DE (2001) Human Cytogenetics: Constitutional Analysis. 3rd edn. New York, NY: Oxford University Press.
 Web Links
    ePath Cytogenetics Gallery. University of Washington, Seattle, Department of Pathology Cytogenetics Image Gallery http://www.pathology.washington.edu/galleries/Cytogallery/

Related Sub-Topics:

Techniques in Cell Biology | Techniques and Tools in Clinical Genetics | Chromosomal Disorders | Chromosomes and Chromatin Modifications | Techniques and Tools in Molecular Biology
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Article Title: Chromosome Analysis and Identification
 
How to Cite close
Warburton, Dorothy(Jan 2006) Chromosome Analysis and Identification. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0005775]