Textbook Problem

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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?

Summary Introduction

To determine: The piece of advice that should be given to a couple explaining all the risks associated with having a second child when their first child is already affected by neurofibromatosis.

Introduction: Neurofibromatosis is a polygenic and autosomal dominantly inherited disorder. It causes disturbance in the cell growth of the nervous system and forms tumors on the nerve tissue. The tumors remain benign and do not lead to cancer in most of the cases. The couple has no family history for the occurrence of the disease.

Explanation of Solution

As there is no history of the disease on either side of the family, it means that the genetic disease might have arisen in the first child due to mutation. By considering the family history, the chances of the second child to inherit the disease is very less. The parents can have a second child after proper genetic counseling.

The parents should go for prenatal screening and cytogenetic analysis to determine if the baby is under risk of any similar genetic abnormality...