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Gonadal Mosaic

Hey there not sure if anyone knows much about Gonadal Mosaic but that's what the geneticist told me I have meaning that some of my eggs have the mutation and some do not as my daughter has the deletion and is a carrier and my son has DMD he is exon deletion of 3-11. Does anyone know anything about this that can help me understand it and what would i see in my daughter (17) if she is a manifesting carrier. Thanks in advance for any help or information.

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Permalink Reply by Ofelia Marin on November 19, 2012 at 3:47pm

The 10-15% chance is ridiculous, as it depends on how many eggs carry the mutation. As I mentioned before there is a non-carrier mom who posted here before with 75% of her eggs carrying the mutation. Obviously, in her case, the 10-15% rule was far off. It varies from person to person. Pre-natal testing performed regardless of carrier status reduces the chance of having another son with Duchenne in many cases.

Jonathan said:

We went and saw a geneticist who told us of our chances were in having another child with DMD. As we werent a carrier the chance of it happening again was listed at about 10% through gonadal mosaiciscm. If we went PGD/IVF it would reduce the risk to 5%.

We decided the issue with IVF/PGD werent worth the reduction by 5% so we took or chances and went for it! We did have a CVS at 12 weeks, and we had a girl after 3 boys!

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StaffPermalink Reply by Ann Martin on November 19, 2012 at 4:57pm

The 10-15% chance that is quoted in medical literature is the chance that any woman with an affected son and a negative blood carrier test would have a second affected. It is a risk based on epidemiological studies and is not referring to the percentage of eggs that could carry the DMD mutation. It is true that if a woman is a gonadal mosaic, she could have anywhere from 1% - 100% of her eggs affected. That is why prenatal testing is always offered (or should be) to any woman with an affected son.

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Permalink Reply by Ofelia Marin on November 19, 2012 at 8:25pm

When any of us asks the doctor what our chance is to have another son with DMD, we do not care what doctors 'think' it can be. We want to know in my particular case, how likely I am to have another son. The answer to that question is what I am interested in. Luckily many doctors today are not quoting the 10-15% anymore. This is a misleading number. When my son was diagnosed 5 years ago Dr Mendell was very clear that no one can actually answer this question hence they are not quoting any numbers. Neither should you. Many women reading your previous answer might think that their chance is si low that it is not worth having prenatal testing or exploring other ways to have additional children like IVF/PGD. As always, each of us should consult phisicians before making these decisions and not use information from any website.

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Permalink Reply by lisa burke on November 20, 2012 at 4:57am

I would also like to add that any reputable clinic should offer a less than 1 in a 1000 chance of error when performing PGD/IVF. If you are not quoted these 'odds' then I would look elsewhere.

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Permalink Reply by Jonathan on November 21, 2012 at 5:27pm

I guess I didnt give all the information that I should have!

Yes the 10%-15% range is misleading, but it was given that you cant take it as gospel and the best way to be certain was to go with IVF/PGD as it would reduce the risk. We were also given the option of choosing to have a girl if we wanted to as it is very easy to choose a female embryo through IVF but that is for another discussion.

the only way one can be sure is to go teh IVF/PGD option or otherwise play the odds and have CVS/amnio testing, but then if you are carrying another DMD child it raises a whole new moral dilema.