penetrance in A Sentence

    1

    Penetrance is about 50-60% in males and 10-15% in females.

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    2

    Since Penetrance of the mutation is very high, those who have a mutated copy of the gene will have the disease.

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    3

    The term' Penetrance' is applicable not only to heterozygously dominant genes like the blue sclerotic gene cited above but also to other dominant or recessive homozygous genotypes.

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    4

    With very large repeat counts, HD has full Penetrance and can occur under the age of 20, when it is then referred to as juvenile HD, akinetic-rigid, or Westphal variant HD.

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    5

    This causes the number of repeats to change in successive generations, such that an unaffected parent with an"intermediate" number of repeats(28-35), or"reduced Penetrance"(36-40), may pass on a copy of the gene with an increase in the number of repeats that produces fully penetrant HD.

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