Determining Genetic Risk

Case 1 - Marfan Syndrome

Family history:

Jill, a 30-year-old woman with Marfan syndrome arrives for a consultation. She explains that her diagnosis was made based on her clinical features and her family history of Marfan syndrome. Jill's father is affected, as was her paternal grandmother. She is married to a man who does not have any features of Marfan syndrome. She informs you that she is pregnant.