Reference no: EM133380288

Question: Your favorite patient Lari comes into the pharmacy with his mother to pick up his medication. He is about 11 years old and is in a wheelchair. His prescriptions include albuterol, prednisone, and benazepril. Lari is an amiable kid and loves to tell you all about his family and what they are up to. He tells you that his sisters and brother are all older than him. His brother plays football and his two sisters are dancers. His mother's sister is also a dancer, but his mother's brother is like him, in a wheelchair. His grandma and grandpa danced the foxtrot last fall at their 60th wedding anniversary. His cousin Jill is a gymnast, and his cousin Jack just started kindergarten. Jack is a silly kid and falls all the time.

1. Draw a pedigree depicting the members of the three generations described. Indicate which symbol represents the affected person described in the case. Indicate which relatives are likely to be affected individuals and which are carriers, if any. You may not know every possible member of this pedigree, but you should know enough to determine the answers to the following questions.

2. What is the most likely genetic disorder Lari has? What is the mutation that causes this disorder?

3. Is any information known about how the mutation causes the disease symptoms? If so, how?

4. What type of genetic disorder is this? Which characteristics of the pedigree indicate this type of genetic disorder?

5. Do you think Lari's siblings and cousins should get their DNA tested to see if they inherited the mutation? Should all of them do this? How might this affect their decision to have children in the future?

6. If Lari's parents have another child, what is the likelihood that the new child will inherit and/or exhibit this disorder?