Robert and Angela recently learned that their newborn son Mark has phenylketonuria (PKU), a genetic disorder. As genetic counselors, they are advising the family on PKU and answering their questions. The family wants to know the chances of any future children inheriting or being carriers for PKU, and whether the counselor recommends they have more biological children given this risk.

1. Name: ______________________ Per: __________
AP Biology Project- Be a Genetic Counselor
Task: You will be learning about phenylketonuria (PKU), a genetic disease. As a genetic counselor, you will
be advising a family on their chances of passing on this disease to their children. You will be answering
several questions the family has about PKU and advising them on their future.
Procedure: Complete research about PKU to learn about the disease. Answer the questions to the family, as
if you are a genetic counselor and are teaching the family about this disorder.
Grading: You will be graded with the following rubric. All assignments are due: Friday, January 3rd!!!!
Typed with Bibliography
Points
/10
/10
/5
/5
/5
/35
Total:
Requirements
Correct, thorough answers to questions 1-6, and 9
Complete and accurate pedigree- question 7
Correct and accurate answer to question 8
Answers are in your own words!! Not copied!
Answers are easy to understand and fully answer Robert and Angela’s questions
/ 35 points
Family Description:
Robert, the dad, is 32. He is a businessman and travels several days in a week. He is married to Angela, his
college sweetheart whom is a registered nurse and works in the local hospital. Neither Robert nor Angela has
PKU. Robert’s parents, Jim and Cathie, are both retired. Cathie is affected with PKU, but Jim is not.
Angela’s parents, Ron and Marie, are also both retired. Neither Ron nor Marie has PKU, but Angela does
have a younger sister, Kiersten, whom does have PKU.
Robert and Angela have a 2 week-old son, Mark, whom they just found out is affected with PKU. Because
of this, Robert and Angela have decided to seek the expertise of you, a genetic counselor, to answer their
questions about phenylketonuria. They have several questions they need answered and would like advice on
how to proceed with any future children they might have.

2. Questions to Answer
1. What exactly is phenylketonuria?
2. What causes this disease?
3. What symptoms will Mark have due to his PKU?
4. What are our treatment options for Mark to handle his PKU?
5. How common is PKU?
6. What is the outlook for Mark’s life with his PKU? What will the future look like for him?
7. Please draw Robert and Angela’s family pedigree below, to explain how PKU has been passed on in their
family. Include: all the family members listed in the description above, correct shading to show PKU, Roman
numerals and Arabic numbers, and please put the family members’ names below their appropriate symbol.
8. We (Robert and Angela) would like to have more children. What are the chances that our children have of
inheriting PKU? What are the chances they a child could be a carrier for PKU? What are the chances that a
child would not have PKU nor be a carrier for it?
9. What is your opinion on us (Robert and Angela) having future children? Would you personally
recommend us to have children if we would like, with the risk of them inheriting PKU, or do you think we
should look at other options, such as adoption? Please explain why.