Three sisters have developed breast cancer and one sister has not. Each sister has the BRCA-1 hereditary breast cancer gene. The phenomenon observed in this autosomal dominant inheritance is referred to as:
A) Variable expression
B) Expressivity
C) Camptodactyly
D) Penetrance
Ans: D
Chapter: 9
Cognitive Level: Application
Difficulty: Difficult
Integrated Process: Nursing Process
Objective: 3
Patient Needs: D-4
Feedback: A phenomenon observed in autosomal dominant inheritance is penetrance, or the percentage of persons known to have a particular gene mutation who actually show the trait. Variable expression is the autosomal dominant condition often present with varying degrees of severity among affected people. In variable expression some may have significant symptoms, whereas others may have only mild ones. Expressivity is the degree of the phenotype expressed. Camptodactyly is a dominant trait that is expressed by immobile little fingers which are permanently bent.
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