Manifesting carrier | definition of manifesting carrier by Medical dictionary
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.
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).
References in periodicals archive
She is herself a manifesting carrier
of Duchenne muscular dystrophy, which has given her a serious heart condition and muscle weakness.
From these findings it is highly unlikely that Mrs Griffiths is a manifesting carrier
for Duchenne muscular dystrophy.