an organism heterozygous for what is ordinarily a recessive condition that, as a result of special mechanisms (such as lyonization, allelic exclusion, or a deletion in the homologous chromosome), has phenotypic manifestations.
Synonym(s): manifesting carrier
Farlex Partner Medical Dictionary © Farlex 2012
manifesting carrierA term of art for a person—typically a woman—who is a heterozygous carrier of a gene, the mutation of which is fully expressed in males (e.g., DMD, the gene defective in Duchenne muscular dystrophy), and who has partial expression of the defective gene (e.g., camptocormia).
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.