Encyclopedia of Cancer

Living Edition
| Editors: Manfred Schwab

Bloom Syndrome

Living reference work entry
DOI: https://doi.org/10.1007/978-3-642-27841-9_671-2

Synonyms

Definition

Bloom syndrome (BS) is a rare human autosomal recessive disorder that belongs to the group of “chromosomal breakage syndromes,” and is characterized by marked chromosomal instability associated with a greatly increased predisposition to a wide range of cancers commonly affecting the general population. BS was first described by David Bloom in 1954 as “congenital telangiectatic erythema resembling lupus erythematosus in dwarfs.” The predominant and constant clinical feature of BS is proportionate pre- and postnatal growth retardation. Additional clinical features are described below. The hallmark of BS cells is an approximately tenfold increase in the rate of sister chromatid exchanges (SCEs) compared to normal cells. This increased level of SCE is the only objective criteria for BS diagnosis (Fig. 1). SCEs frequency averages 0.24 per chromosome in normal cells and 2.12 per chromosome in BS cells.

Keywords

Acute Myeloid Leukemia Lynch Syndrome Fanconi Anemia Sister Chromatid Exchange Werner Syndrome 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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References

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See Also

  1. (2012) Ataxia telangiectasia. In: Schwab M (ed) Encyclopedia of cancer, 3rd edn. Springer, Berlin/Heidelberg, p 298. doi:10.1007/978-3-642-16483-5_426Google Scholar
  2. (2012) D-Amino Acid. In: Schwab M (ed) Encyclopedia of cancer, 3rd edn. Springer, Berlin/Heidelberg, p 1059. doi:10.1007/978-3-642-16483-5_223Google Scholar
  3. (2012) G1/S transition. In: Schwab M (ed) Encyclopedia of cancer, 3rd edn. Springer, Berlin/Heidelberg, p 1484. doi:10.1007/978-3-642-16483-5_2291Google Scholar
  4. (2012) G2/M arrest. In: Schwab M (ed) Encyclopedia of cancer, 3rd edn. Springer, Berlin/Heidelberg, p 1484. doi:10.1007/978-3-642-16483-5_2465Google Scholar
  5. (2012) Genotoxic. In: Schwab M (ed) Encyclopedia of cancer, 3rd edn. Springer, Berlin/Heidelberg, p 1540. doi:10.1007/978-3-642-16483-5_2393Google Scholar
  6. (2012) Helicase. In: Schwab M (ed) Encyclopedia of cancer, 3rd edn. Springer, Berlin/Heidelberg, p 1639. doi:10.1007/978-3-642-16483-5_2605Google Scholar
  7. (2012) Loss of heterozygosity. In: Schwab M (ed) Encyclopedia of cancer, 3rd edn. Springer, Berlin/Heidelberg, pp 2075–2076. doi:10.1007/978-3-642-16483-5_3415Google Scholar
  8. (2012) P53. In: Schwab M (ed) Encyclopedia of cancer, 3rd edn. Springer, Berlin/Heidelberg, p 2747. doi:10.1007/978-3-642-16483-5_4331Google Scholar
  9. (2012) Rho. In: Schwab M (ed) Encyclopedia of cancer, 3rd edn. Springer, Berlin/Heidelberg, p 3302. doi:10.1007/978-3-642-16483-5_5099Google Scholar
  10. (2012) Sister chromatid exchange. In: Schwab M (ed) Encyclopedia of cancer, 3rd edn. Springer, Berlin/Heidelberg, p 3418. doi:10.1007/978-3-642-16483-5_5328Google Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  1. 1.Institut Curie – UMR 3348 CNRSOrsay CedexFrance