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