Question
Inquire about the inheritance of Marfan syndrome across generations, particularly when the father is a patient and the mother is normal. What are the respective chances of illness in male and female offspring? If the father’s mother is suspected to be a patient but was not diagnosed due to the underdevelopment of early medicine, will this affect the inheritance?
Answer
Marfan syndrome is a chromosomal dominant genetic disorder affecting connective tissue, primarily the eyes, skeleton, and cardiovascular system. The inheritance pattern is gender-neutral; therefore, if one parent is a patient, the chance of the child developing the condition is 50%. Additionally, some patients may not have a family history, possibly due to a genetic mutation, and this mutated gene can also be inherited across generations by offspring.