Question about gonadal mosaicism
Is it hereditary? From what I can tell, a gonadal mosaic happens when a mutation occurs in an early stage of embryonic development, so that makes me think that no, it isn't hereditary. I mean, obviously it is passed on to the children if they get one of the flawed eggs, but I didn't get it from my mother, right?? So if I am a gonadal mosaic and not a DNA carrier, my mom and sisters don't need to worry about also being gonadal mosaics, right? It's just my own personal mutation, right?
Replies to This Discussion
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Permalink Reply by Janine on
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That is correct, your mom and sister would not need to be tested for carrier status if you are not a DNA carrier.
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Permalink Reply by Hally Goldstein on
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Your sisters should be tested since your mother may have had more then one affected egg with the mutation.
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Permalink Reply by Maggie on
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Right, but if I got the mutation from my mother, that would make me a carrier (my egg had the mutation, so I have the deletion too), not a gonadal mosaic. If I don't have the mutation but my son does, it was either just his egg or some percentage of MY eggs that have it. I think I get it now.
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Any daughters you have or will have will need to be tested for carrier status. Hally what I thought from her post is that she is not a dna carrier. If she is not then it did not come from any of her mother's eggs because in that case she would be a dna carrier. If she is not a dna carrier her sisters are no more likely to be carriers than anyone else in the general population.
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