In genetics, a chromosomal rearrangement is a type of chromosome abnormality involving a change in the structure of the native chromosome. Such changes may involve several different classes of events, like deletions, duplications, inversions, and translocations. Usually, these events are caused by a breakage in the DNA double helices at two different locations, followed by a rejoining of the broken ends to produce a new chromosomal arrangement of genes, different from the gene order of the chromosomes before they were broken. Structural chromosomal abnormalities are estimated to occur in around 0.5% of newborn infants.
Some chromosomal regions are more prone to rearrangement than others and thus are the source of genetic diseases and cancer. This instability is usually due to the propensity of these regions to misalign during DNA repair, exacerbated by defects of the appearance of replication proteins (like FEN1 or Pol δ) that ubiquitously affect the integrity of the genome.
Complex chromosomal rearrangements (CCR) are rarely seen in the general population and are defined as structural chromosomal rearrangements with at least three breakpoints with exchange of genetic material between two or more chromosomes. Some forms of campomelic dysplasia, for example, result from CCRs.
- UniProt. Keyword Chromosomal rearrangement. Accessed 26 Dec 2012.
- Griffiths, Anthony J.F.; Gelbart, William M.; Miller, Jeffrey H.; Lewontin., Richard C. (1999). "Chromosomal Rearrangements id=NBK21367". Modern Genetic Analysis. New York: W. H. Freeman. ISBN 0-7167-3118-5.
- Jacobs PA, Browne C, Gregson N, Joyce C, White H (February 1992). "Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding". J. Med. Genet. 29 (2): 103–8. PMC 1015848. PMID 1613759.
- Piazza A, Serero A, Boulé JB, Legoix-Né P, Lopes J, Nicolas A (2012). "Stimulation of gross chromosomal rearrangements by the human CEB1 and CEB25 minisatellites in Saccharomyces cerevisiae depends on G-quadruplexes or Cdc13". PLoS Genet. 8 (11): e1003033. doi:10.1371/journal.pgen.1003033. PMC 3486850. PMID 23133402.
- Karadeniz N, Mrasek K, Weise A (2008). "Further delineation of complex chromosomal rearrangements in fertile male using multicolor banding". Mol Cytogenet 1: 17. doi:10.1186/1755-8166-1-17. PMC 2531127. PMID 18687140.