3. Extensions to Mendelian Inheritance

A group of individuals exhibit a range of intermediate phenotype between dominant and recessive. What term measures this phenotype?

Penetrance measures which of the following?

Define and distinguish incomplete penetrance and variable expressivity.

Brachydactyly type D is a human autosomal dominant condition in which the thumbs are abnormally short and broad. In most cases, both thumbs are affected, but occasionally just one thumb is involved. The accompanying pedigree shows a family in which brachydactyly type D is segregating. Filled circles and squares represent females and males who have involvement of both thumbs. Half-filled symbols represent family members with just one thumb affected.

Is there any evidence of variable expressivity in this family? Explain. 

Brachydactyly type D is a human autosomal dominant condition in which the thumbs are abnormally short and broad. In most cases, both thumbs are affected, but occasionally just one thumb is involved. The accompanying pedigree shows a family in which brachydactyly type D is segregating. Filled circles and squares represent females and males who have involvement of both thumbs. Half-filled symbols represent family members with just one thumb affected.

Is there evidence of incomplete penetrance in this family? Explain.