Mutation, hereditary

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Medical Definition of Mutation, hereditary

Mutation, hereditary: A heritable change in the DNA of a gene or chromosome in a cell destined to become an egg or a sperm or the zygote (the conceptus) at the single-cell stage. When transmitted to a child, an hereditary mutation is incorporated in every cell of their body.

Hereditary mutations play a key role in genetic diseases. They also play a role in certain types of cancer as, for example, the eye tumor retinoblastoma and Wilms tumor, a childhood malignancy of the kidney.

Hereditary mutations are also called germline mutations.


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Reviewed on 6/9/2016

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