Pedigree = XLD (not all generations affected = X-linked, affects males and females similarly = dominant).
Affected fathers = 100% transmission to daughters, 0% transmission to sons.
Affected mothers = 50% to daughters, 50% transmission to sons.
Both parents affected = 100% transmission to daughters (due to father's X chromosome), 50% transmission to sons (due to mother's X chromosome).
Both parents affected each transmitting both to daughter (homozygous daughter) = 50% and more severe.
If condition is uniformly fatal to males in utero, then the 50% affected based on transmision (as above) will die in utero, and the 50% not affected will have live births. This means, risk of female being affected = 50% and risk of live-born males being affected = 0%.
https://en.wikipedia.org/wiki/Incontinentia_pigmenti
Is the woman in the first generation 1(2) not affected because of incomplete penetrance?1(2) has to have the trait for the disease to develop in the future generation.
I knew it had to be X-linked because it said that it was fatal to males who have it in utero, but I had a hard time deciding between dominant and recessive. Ultimately it has to be X-linked dominant because the affected mother in the second generation gave birth to unaffected sons (which can't happen in X-linked recessive). That means the mother in question is heterozygous and her daughters will have a 50% chance of inheriting the disease while her sons have to be unaffected if they live, as previous posters mentioned. I didn't figure this out until way after the test...this one was a doozy. Still not sure that it's XLD because how come nobody in the first gen has it? Guessing it was a spontaneous mutation?
Honest question: Why does it matter what pattern of inheritance it has? For all we know, its multi-factorial/can't be determined.
I feel like the easiest way to answer it is: acknowledging it is "uniformly fatal to males in-utero" = 0% chance for males; and legit just counting the fraction of females in generation III that have the disease = 4/6 ~50%.
Here, the mother is homozygous for the mutation therefore she displays the disease.
We see that,
Here we see, that mother can pass defective X chromosome to 50% females & other 50% will be carriers (healthy X chromosome from father, defective from mother) For males, Mother passes defective X chromosome so they die (only 1 X chromosome)
For the males who are living (III 6,11 shown in pedigree), they have been lucky to survive due to mosaicism! ;)
submitted by โdrmantistoboggan4(18)
It said it was fatal to males in utero, and the question asked about live born offspring. Since the males arenโt being born in the first place, I said 50% females and 0% males.