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An autosomal recessive condition present in individuals in two or more generations of a family, thereby appearing to follow a dominant inheritance pattern. Common explanations include: 1) a high carrier frequency; 2) birth of an affected child to an affected individual and a genetically related (consanguineous) reproductive partner.

Definition from: GeneReviewsThis link leads to a site outside Genetics Home Reference. from the University of Washington and the National Center for Biotechnology Information

See also Understanding Medical Terminology.

Published: February 1, 2016