NBME Answers : nissimhazkour1's page

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submitted by mittelschmerz(49), visit this page

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How do you know for sure that this is incomplete penetrance and not gonadal mosaicism? Dont both allow an AD disease to be transmitted by a phenotypically non-expressing carrier?

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nissimhazkour1 my line of thinking is that gonadal mosaicism is much less likely considering there is a family history of the disease. If there was no family history then a gonadal mutation causing mosaicism is possible, but taking into consideration how there is a clear AD inheritance, it must be that the person inherited the disorder but is not expressing the phenotype. hope this helps! +3

mittelschmerz Yes thanks! That feels like it should have been so obvious in retrospect, ugh. +1

i_hate_it_here Don't sweat it fam, I hate it here too +5