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Rare Disease Forum by Genetidoc Genetic Clinic Forums Frequently Asked Questions What is the difference between a chromosomal disorder and a single-gene disorder

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    • #299
      Anonymous
      Moderator

      What is the difference between a chromosomal disorder and a single-gene disorder?

    • #304
      Sana Fathima K S
      Keymaster

      A single-gene disorder is caused by a change in one specific gene, such as cystic fibrosis or sickle cell disease. A chromosomal disorder involves a larger change, such as an extra, missing, or rearranged chromosome, such as Down syndrome. Both are detected through different types of genetic tests.

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