Glossary Term: De Novo Mutation

Definition:

Not inherited. A genetic difference that is not inherited but arises due to a gene alteration that appears in one family member as a result of a mutation in an egg or a sperm of one of the parents, or in the fertilized egg itself. The mutation is not part of the parent's overall genetic code. See also copy number variation and mutation.

More Information:

See Deletions and Duplications: A Genetic Variation on Chromosome 16 Associated with Autism to learn more about de novo copy-number variations and their possible link to ASD.