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Illustration of chromosomes and DNA

A genetic disorder is a disease caused by a different form of a gene called a variation, or an alteration of a gene called a mutation. Many diseases have a genetic aspect. Some, including many cancers, are caused by a mutation in a gene or group of genes in a person's cells. These mutations can occur randomly or because of an environmental exposure such as cigarette smoke.

Other genetic disorders are inherited. A mutated gene is passed down through a family and each generation of children can inherit the gene that causes the disease. Still other genetic disorders are due to problems with the number of packages of genes called chromosomes. In Down syndrome, for example, there is an extra copy of chromosome 21.

If you know that you have a genetic problem in your family, you can have genetic testing to see if your baby could be affected.

National Human Genome Research Institute

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