what is aneuploidy

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Nature

Aneuploidy is a genetic disorder where there is an abnormal number of chromosomes in a cell. It can occur when there is an extra copy of a chromosome (trisomy) or when a chromosome is missing (monosomy) . Aneuploidy can affect almost every body system and is a common cause of genetic disorders, including Down syndrome, Edwards syndrome, or Patau syndrome. The risk of aneuploidy during pregnancy is higher in individuals with advanced maternal age.

Aneuploidy is the result of a genetic error that most often happens before the fertilization of sperm and egg cells. During meiosis, when a single cell divides twice to create two cells with half of the original amount of their genetic code, pairs of chromosomes may fail to separate, leading to aneuploidy. Aneuploidy is random and unpredictable.

Aneuploidy can be caused by various factors, including exposure to aneugens, which are agents capable of causing aneuploidy. Many mutagenic carcinogens are aneugens, and X-rays, for example, may cause aneuploidy by fragmenting the chromosome.

In conclusion, aneuploidy is a genetic disorder that results in an abnormal number of chromosomes in a cell. It can occur when there is an extra copy of a chromosome or when a chromosome is missing. Aneuploidy can affect almost every body system and is a common cause of genetic disorders. It is caused by a genetic error that most often happens before the fertilization of sperm and egg cells, and it can also be caused by exposure to aneugens.