Just wondering if everyone could respond and tell me if your son's duplication was the result of a spontaneous mutation of if it was passed down from a previous generation? Also, if the mutation was passed down, how many generations past were affected with MD that you are aware of?
Sorry to get get personal but can I ask how old is your daughter and have (the mother) you been tested.
PS. My grand-son (4 yrs old) has duplications also with no family history and my daugther is not a carrier.
Terry Porcaro said:
I have two grandsons with a duplication. My daughter is a carrier. No one else in our family has DMD, and we never heard about any prior generations having it either.
My oldest son is 10 and has Duchenne (a deletion, not a duplication) and my younger son is 6, and does not. My mother is not a carrier and I am, so it started with my birth. It strikes me just now as I write this, that if I had been born a boy, I would have Duchenne.