Aneuploidy

presence of an abnormal number of specific chromosomes in a cell

Aneuploidy is a condition where the nucleus of a cell has one or a few chromosomes more or less than the usual number in the species.[1] It is a common cause of genetic disorders. Aneuploidy occurs during cell division when the chromosomes do not separate properly between the two cells.[2]

Aneuploidy often causes birth defects and miscarriages.[3] Birth defects make up about 3% of births in the United States.[4] Among those who survive birth, Down syndrome is the most common form of aneuploidy.[5] Many with Down syndrome do survive to adulthood.[5] Some cancer cells also have abnormal numbers of chromosomes.[6] The aneuploid theory of cancer suggests that aneuploidy is a cause of cancer rather than a result of it.[7]

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  1. Species normally have a set number of chromosomes in each individual, and the term "aneuploidy" refers to the chromosome number being different from the usual number for that species.
  2. Dudek R.W. 2007. High-yield cell and molecular biology. 2nd ed, Philadelphia: Wolters Kluwer/Lippincott Williams & Wilkins, p. 129
  3. Hassold T; Hall H. & Hunt P. 2007. The origin of human aneuploidy: where we have been, where we are going. Human Molecular Genetics 16, Review Issue 2, p. R203.
  4. "Birth defects". Centers for Disease Control and Prevention. 20 October 2014. Retrieved 31 October 2014.
  5. 5.0 5.1 Benson J.B. & Haith M.M. (eds) 2009. Diseases and disorders in infancy and early childhood. Academic Press, p. 85
  6. Sen S (2000). "Aneuploidy and cancer". Current Opinion in Oncology. 12 (1): 82–8. doi:10.1097/00001622-200001000-00014. PMID 10687734. S2CID 24886651.
  7. Harvard Medical School (2013). "Study offers new theory of cancer development". ScienceDaily, LLC. Retrieved 31 October 2014.