Patient's question:
I would like to consult about the hereditary issue of Marfan syndrome. If the father is a patient and the mother is normal, what are the probabilities of the child, both male and female, having the disease? The mother of the father is suspected of being a patient because of the lack of medical development in the early years, and she passed away without a diagnosis. Will it be hereditary?Doctor's answer:
Marfan syndrome is an autosomal dominant hereditary connective tissue disease that primarily affects systems such as the eyes, bones, and cardiovascular system. It is inherited across generations without gender reversal. The probability of inheritance across generations is relatively high, meaning if one parent has the disease, there is a 50% chance of the offspring developing it. Additionally, some cases may occur without a family history, as they can result from spontaneous genetic mutations in individuals. The mutated genes can also be passed down to offspring across generations.