manifesting carrier

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).

Mentioned in ?

manifesting heterozygote

References in periodicals archive ?

In summary, the female manifesting carrier of DMD mutation is a challenging condition for diagnosis which often relies on a clear X-linked family history of dystrophinopathy.

The manifesting carrier in Duchenne muscular dystrophy.

In DMD, BMD, and manifesting carriers, cardiomyopathy should always be considered.

A De novo Mutation in Dystrophin Causing Muscular Dystrophy in a Female Patient

She is herself a manifesting carrier of Duchenne muscular dystrophy, which has given her a serious heart condition and muscle weakness.

We can't find a home because we're disabled; Mum hits out at 'benefits stigma'

From these findings it is highly unlikely that Mrs Griffiths is a manifesting carrier for Duchenne muscular dystrophy.

WALES: I needlessly aborted two children and took life when it was unnecessary ... I still think of how they would have turned out; MUM'S LIFE 'RUINED' AS MUSCULAR DYSTROPHY MISDIAGNOSIS LED TO LOSS OF UNBORN BABY BOYS DAILY POST EXCLUSIVE