Chapter 19, Problem 8PDQ

Summary Introduction

Case summary:

A couple with European ancestry having the history of cystic fibrosis in the husband’s family. The husband is heterozygous for the $∆$ 508 mutation and the wife is heterozygous for the R117 mutation. The couple does not want to have a child affected with cystic fibrosis.

Characters in the case:

A couple and the genetic counselor.

Adequate information:

Both husband and wife are heterozygous for specific mutations and do not want to have a child homozygous for either mutation. They express their conviction while consulting with a genetic counselor.

To determine: the adequate suggestion provided by the genetic counselor to the couple.

Given information:

Both husband and wife are heterozygous for specific mutations and do not want to have a child homozygous for either of the mutation which leads to the risk of developing cystic fibrosis in the child.