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Aneuploidy, or the presence of an abnormal number of chromosomes, is the cause of several well-known genetic disorders. The most common manifestation of aneuploidy in humans is a trisomy, or having a third copy of some chromosome instead of the normal two. Here are some disorders caused by aneuploidy:

  • Easily the best-known is Down Syndrome, which is caused by the presence of an extra chromosome 21. Down syndrome causes various birth defects including heart failure and mental retardation, as well as a distinctive "offset" facial structure.
  • Turner Syndrome is caused by the absence of one X chromosome in a woman (monosomy X). Most infants with Turner Syndrome are miscarried, but some survive; common symptoms include swollen appendages, underdeveloped breasts and infertility.
  • Trisomy 18 (having an extra chromosome 18) causes high risk of miscarriage, mental deficiency and malformation of various body parts including the head, feet, fingernails and jaw.
  • Klinefelter Syndrome is a non-life-threatening condition caused by the presence of an extra X chromosome in men; it results in a paucity of "masculine" features like armpit hair.
  • Trisomies of many chromosomes (like 12, 13 and 18) lead to various genetic disorders that lower chances of survival at birth and cause malformation of various organs.

The risks of aneuploidy rise with the mother's age. Over 40% of embryos in pregnant women aged 35 and older are abnormal. Most of these are not born, however. Nevertheless, one of every 19 children born to a 45-year-old mother has aneuploidy, as opposed to one of every 385 born to a 30-year-old.

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13y ago
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13y ago

certain disorders are caused by different forms of the difference in the cromosome.

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13y ago

yes, for example down's syndrome is caused by an extra 21st chromosome

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Q: What are chromosome disorders caused by?
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x-linked recessive chromosome.


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Too few of a type of chromosome can cause genetic disorders or death. Turner Syndrome occurs when there is a missing X chromosome.


What sex is more likely to get a sex-linked disorder?

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What has the author Thomas Liehr written?

Thomas Liehr has written: 'Small supernumerary marker chromosomes (sSMC)' -- subject(s): Genetic disorders, Medical genetics, Case Reports, Chromosome Disorders, Human cytogenetics, Chromosome Aberrations


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Well certain disorders are found on certain chromosomes and on certain parts of the chromosome. How they find out how, i don't know. But if some pieces of a specific chromosome they can predict they will have a certain disorder


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