Chapter 4, Problem 2RQ

A couple has had a child born with neurofibromatosis. They come to your genetic counseling office for help. After taking an extensive family history, you determine that there is no history of this disease on either side of the family. The couple wants to have another child and wants to be advised about the risks of that child having neurofibromatosis. What advice do you give them?

If diseases such as cardiovascular disease (hypertension and atherosclerosis) are familial, is this an indication that there is a genetic contribution to these traits? What would you do to confirm that genetics is involved in this condition?

Which of the following genetic diseases is/are inherited as an autosomal recessive trait: phenylketonuria, Huntingtons disease, Tay-Sachs disease?