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?

Thanks,

Dennis

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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.

Sorry to get get personal but can I ask how old is your daughter and have (the mother) you been tested.
Dennis, Thanks

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 daughter is 39.  She was 32 when she had her first son, and 34 with her second.  No, I was never tested.
I have 2 grandsons. One has DMD the other does not. No family history, and my daughter is not a carrier.
I have 2 sons affected with DMD I am a carrier as was my mother.  My uncle died at age 16 from DMD, so my grandmother was a carrier. We also know a great uncle died from DMD, so that means my great grandmother was a carrier. If I ask any family members that are still alive, we feel the other males in the family that died young had symptoms, but were not diagnosed with DMD.  That is over 80 years of it in my family. I also have another son not affected and a daughter yet to be tested.  Hopefully she wasn't passed the bad x chromosome.
I have two sons wih DMD, I am a carrier, no history of DMD in family we are aware of, don't know if my mother was a carrier since she was never tested and she is deceased now,  I also have a sister, she has not been tested, but her son 26 yrs old and daughter 22 yrs old do not have dmd, but since we are not sure why I am a carrier my niece plans on getting tested one day.
I have a 17 year old son with duplications and no family history.  My 20 year old daughter is a carrier and the bloodwork says that I am not a carrier.  Although, the geneticist told me that it is still possible that I'm still a carrier.
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.
Exactly our situation too Rebecca.

Rebecca Saulsbury said:
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.
Joshua is 8 with duplications 8-25. I was tested and am not a carrier. We had no idea what this disease was until he was diagnosed at 6 weeks.
My son is 8 with DMD. I have a healthy son and healthy daughter via IVF with PGD, which is how I found out that I'm a germline carrier (it's in my eggs). It's in about 15% of them.
Dennis - It's my understanding that mutations can be spontaneous or passed down on the X chromosome.  I read that it's about 2/3's passed down from the mom and  1/3 spontaneous.  But, you know statistics are only as good as the facts imput.  So, if there haven't been much definitive testing until say last ten years, then hard to measure if it reoccurred in your family if you were to go back in the family tree.  And, what if your ancestors had many years of just girls or the mutation skipped years.  You get the idea.  Also - the dystrophin gene is the biggest in the human body.  That being the case, I heard it's the most unstable so that seems logical that it would be subject to mutations.  You could look in the University of Leiden data base on mutations and I think duplications are about 20%.  Char Burke

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