NURS 315 Pathophysiology
Module 1 Genetics Case Study

Name _____Tammy Bills_______________________________________________
Review the following case study and answer the questions for each part located at the end of the case. Submit as directed to the drop box.

“In Sickness and in Health” by Barry Chess Page

A Trip to the Genetic Counselor

Part 1—Pedigree Construction
Greg and Olga were both a little worried. Starting a family presented choices and responsibilities far more long-reaching and complex than anything either of them had encountered before, and sitting here in the reception area of the genetic counselor’s office they were beginning to feel the pressure. They had met four years earlier in the hemophilia
But, we can spend a little time going over the chance that you both carry a gene that has never before shown its face. The first step is we have to convert the family information you two have provided into a graphical representation called a pedigree. From there we can begin to correlate family relationships with the appearance of specific diseases.”
Answer Question #1
Part 2—Autosomal Dominant Traits
“Great, so this looks like an accurate representation of your family, right?” Dr. Ciletti asked.
“Looks good to me,” replied Greg.
“My family is so small, there’s not much to miss until you get to my grandparents,” said Olga.
“Well, factor viii deficiency and myotonic dystrophy are inherited in completely different ways. Come to think of it, you asked about CF as well and …”
“CF?” asked Greg.
“Cystic fibrosis,” Dr. Ciletti continued. “I was about to say that cystic fibrosis is inherited in a manner different than both of the other diseases you are concerned about, but let’s tackle them one at a time.”
“Myotonic dystrophy is an autosomal dominant disease and it is the easiest to pick out of a pedigree. Now Greg, even though you have an uncle and aunt as well as a grandmother who all have the disease, you don’t and there is no way that you will pass this disease on to your children. So that is the first piece of good