Genetic Counselor Case Studies

You are a genetic counselor working with parents who are planning their families.

Each of these families is concerned about passing a different inherited disorder to their potential children. You will read through each case study and determine the possibility that a child will inherit a specific condition from their parents. You will need to research the common inheritance pattern of the condition, create a Punnet square, and determine the possibility that a specific offspring will inherit the condition.

Prepare a report detailing your findings for each couple. Be sure to include the following:

  • A description of the condition and the inheritance pattern
  • A Punnet square
  • An evaluation of the inheritance risk for the couple’s children

This assignment should be in current APA Style with both a title page and a reference list that includes all of the sources used for these case studies.

Case 1: A couple is concerned that their future children will inherit hemophilia. The father has a brother that suffers from the condition. As their genetic counselor, you must determine the probability that hemophilia will be passed to their children.

Case 2: A couple is concerned that their children may inherit Turner syndrome from the mother’s side of the family. The mother has an aunt with the condition.

Case 3: The first child born to a couple was a female with sickle cell anemia. Neither parent has sickle cell anemia. The mother has a sister with the condition. The father was adopted and is unsure of his family history.

Case 4: The father has been diagnosed with Huntington’s disease. The couple would like to have children and they are concerned about passing the disorder to their offspring

 

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