Chromosome Rearrangements


Structural changes in chromosomes can be induced by a wide variety of agents. Such changes, especially those that can be transmitted to future cell generations, play an important role in relation to genetic disease, congenital malformations and cancer. They are also used extensively for determining the extent of individual exposure in the case of radiation accident scenarios, and for environmental hazard screening in general.

Keywords: chromosomes; aberrations; DNA damage; mutation

Figure 1.

The four basic aberration categories. Examples of common two‐lesion forms are shown as they might appear at metaphase when solid staining is used: A, asymmetrical rejoining; S, symmetrical rejoining. Note that some S aberrations are not visible when solid staining is used. SU, sister union with both ends laterally fused; NUp, nonunion proximal; NUd, nonunion distal, lateral fusion absent in the centromeric or acentric portion.

Figure 2.

A group of five chromosomes from a cell irradiated in G0. (a) Solid stained. A chromosome‐type dicentric plus an acentric fragment is visible. The obvious inference is that these two elements are related and are the result of a two‐break asymmetrical exchange (cf. Figure ). There might also be symmetrical changes present in other chromosomes, but these are not registered with solid staining. (b) Two different chromosomes have been FISH‐painted distinctively, and the remaining chromosomes counterstained with a nonspecific fluorochrome. The dicentric pattern is clearly not simple, for the terminal segment is not in the acentric fragment. At least three breaks in three chromosomes are required to obtain such a pattern. An apparent reciprocal translocation is present between two of the other chromosomes. Again the inference is that it is a simple two‐break symmetrical exchange (cf. Figure ). There is no suggestion that the two aberrations are in any way related. (c) All five chromosomes have been distinctively painted using mFISH. We can now see the complete exchange ‘configuration’ from which earlier patterns were derived. The translocation of pattern (b) is not simple. In fact, all the break‐ends of the five chromosomes are involved in one grand ‘musical‐chairs’ exchange: a ‘cyclical exchange of order 5’ (Sachs et al., ) or ‘c5’ (Cornforth, ).



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Cornforth MN (2001) Analyzing radiation‐induced complex chromosome rearrangements by combinatorial painting. Radiation Research 155: 643–659.

ISCN (1978) An international system for human cytogenetic nomenclature. Cytogenetics and Cell Genetics 21: 309–404.

Lea DE (1946) Actions of Radiations on Living Cells. Cambridge: Cambridge University Press.

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Revell SH (1959) The accurate estimation of chromatid breakage and its relevance to a new interpretation of chromatid aberrations induced by ionizing radiations. Proceedings of the Royal Society of London. Series B: Biological Sciences 150: 563–589.

Sachs RK, Chen AM, Simpson PJ et al. (1999) Clustering of radiation‐produced breaks along chromosomes: modeling the effects on chromosome aberrations. International Journal of Radiation Biology 75: 657–672.

Savage JRK (1976) Annotation: Classification and relationships of induced chromosomal structural changes. Journal of Medical Genetics 13: 103–122.

Savage JRK (1998) A brief survey of aberration origin theories. Mutation Research 404: 139–147.

Savage JRK (2002) Reflections and meditations upon complex chromosomal exchanges. Mutation Research Reviews 512: 93–109.

Savage JRK and Papworth DG (1991) Excogitations about the quantification of structural chromosomal aberrations. In: Obe G (ed.) Advances in Mutagenesis Research vol. 3, pp. 162–189. Berlin: Springer.

Sax K (1941) Types and frequencies of chromosomal aberrations induced by X‐rays. Cold Spring Harbor Symposia on Quantitative Biology 9: 93–103.

Further Reading

Kihlman BA (1966) Actions of Chemicals on Dividing Cells. Upper Saddle River, NJ: Prentice Hall.

Revell SH (1974) The breakage‐and‐reunion theory and the exchange theory for chromosomal aberrations induced by ionizing radiations: a short history. Advances in Radiation Biology 4: 367–416.

Rooney DE and Czepulkowski BH (eds) (1992) Human Cytogenetic. A Practical Approach. I: Constitutional Analysis, 2nd edn. Oxford: IRL Press.

Rooney DE and Czepulkowski BH (eds) (1992) Human Cytogenetics A Practical Approach. II: Malignancy and Acquired Abnormalities, 2nd edn. Oxford: IRL Press.

Savage JRK (1989) Review article. The production of chromosome structural changes by radiation: an update of Lea (1946), Chapter VI. British Journal of Radiology 62: 507–520.

Savage JRK and Tucker JD (1996) Nomenclature systems for FISH‐painted chromosome aberrations. Mutation Research 366: 153–161.

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Savage, John RK(May 2005) Chromosome Rearrangements. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0003826]