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Retired NBME Free 120 Answers

free120/Block 1/Question#27 (reveal difficulty score)
A couple comes for preconceptional genetic ...
50% ๐Ÿ” / ๐Ÿ“บ / ๐ŸŒณ / ๐Ÿ“–
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submitted by โˆ—bwdc(697)
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The mom will pass on her deletion in 50%. The father will pass it on in 100% (because both of his copies are affected). Therefore, the child will automatically have at least one deletion and will have the double deletion in 50%.

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aaa1  "The mom will pass on her deletion in 50%. The father will pass it on in 100% (because both of his copies are affected). Therefore, the child will automatically have (?) one deletion and will have the double deletion in 50%" +2



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submitted by โˆ—an_improved_me(91)
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No idea if this is the right logic but: Start with a punnett square. We know there are 4 alleles ass. with alpha-globins. TBH, i'm not sure why, but i think of them as received together. So i used the following nomenclature:

A/ B/ C/ D = normal Ao / Bo = abnormal.

Mom has one mutation, so AoBCD x ABCD Dad had two mutations, one on each chromosome (trans): AoBCD, ABoCD

Crossing them together:

AoBCD x AoBCD = Hit (two mutations, oppisite chromosomes) AoBCD x ABoCD = hit (two mutations, oppisite chromosomes) ABCD x AoBCD = non-hit ABCD x ABoCD = non-hit - therefore, 50% chance of having a trans mutation in the offspring.

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