penetrance
Noun
Meaning
Alt. of Penetrancy
Source: Webster's dictionaryRelated terms
Anagrams
Examples
36–39 repeats result in a reduced- penetrance form of the disease, with a much later onset and slower progression of symptoms.
There is over 90% penetrance by the age of 65. citation Age at diagnosis varies from infancy to age 60–70 years, with an average patient age at clinical diagnosis of 26 years.
In some cases the onset may be so late that symptoms are never noticed. citation 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.
It is seen in approximately half of male carriers over the age of 70, while penetrance in females is lower.
Since penetrance of the mutation is very high, those who have a mutated copy of the gene will have the disease.