cassdawgAlso, nonpaternity can be a way of saying that the assumed biological father is not actually the father (can be a case of artificial insemination or cheating, etc.). +4
betoIn genetics, a non-paternity event is when someone who is presumed to be an individual's father is not in fact the biological father.+1
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?
nissimhazkour1my 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
mittelschmerzYes thanks! That feels like it should have been so obvious in retrospect, ugh. +1
submitted by โhungrybox(1277)
A: Gonadal mosaicism | Present in child, not parent โ would not have family history of disease
B: Incomplete penetrance | Correct! Half of children affectd, skips a generation โ AD inheritance likely.
C: Nonpaternity โ Prader-Willi
D: Somatic mosaicism | Present in parent, not child โ would not have family history of disease
E: Variable expressivity | Affected patients have varying disease severity โ Rule out b/c mother is unaffected