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Overview of Genetics and Genomics in Nursing

Mr. Wayne is a 38-year-old man with a significant family history of elevated cholesterol levels. His father died at age 42 from a massive heart attack secondary to elevated cholesterol and triglycerides, and two of his older siblings are currently taking medications to lower their cholesterol levels. Mr. Wayne makes an appointment to discuss his risk for hypercholesterolemia. The nurse recognizes that Mr. Wayne is at risk for familial hypercholesterolemia because this is an autosomal dominant inherited condition. (Learning Objective 2)

  1. Describe the pattern of autosomal dominant inheritance.
  2. Mr. Wayne asks what chance his children have of      developing familial hypercholesterolemia. How should the nurse respond?
  3. Explain the phenomenon of penetrance observed in      autosomal dominant inheritance.

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