manifesting heterozygote


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Related to manifesting heterozygote: homozygous, nondisjunction

man·i·fest·ing het·er·o·zy·gote

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

manifesting carrier

A 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).

man·i·fest·ing het·er·o·zy·gote

(man'i-fest'ing het'ĕr-ō-zī'gōt)
An organism heterozygous for what is ordinarily a recessive condition, which, as a result of special mechanisms (e.g., lyonization, allelic exclusion, or a deletion in the homologous chromosome), has phenotypic manifestations.
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