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Retired NBME 16 Answers

nbme16/Block 4/Question#3 (reveal difficulty score)
A couple seeks genetic counseling because of ...
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tags: genetics

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submitted by โˆ—cassdawg(1781)
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Fragile X syndrome is X-linked dominant inheritance associated with a trinucleotide repeat in FMR1 (FA2020 p62).

Even if you did not know this fact, fragile X syndrome (a disease affecting the X chromosome) should be X-liked of some sort.

Knowing the disease is X-linked, you can get to the answer because in the couple, the father is the only one with a family history of the disease. Whether the disease was X-linked recessive or X-linked dominant, if the father had the diseased X-chromosome he would have the disease (as males only have one X chromosome). Since the father does not have the disease, he does not have the chromosome and thus cannot pass it on. Thus, the chance of their child having the disease is 0%

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the_enigma28  Any reason why II-2 & II-3 females are not shown to be affected?? +3
yhm17  Possibly due to X-inactivation leading to mosaicism so they wouldn't demonstrate the phenotype. +14
specialist_jello  My thought process was trinucleotide repeat diseases show anticipation Stem says "SIMILAR EXPANSION" so the number of repeats cant be same generations later. +2
hivwizard  Yeah i figured that the chances of the next generation having the same repeat expansion as generation 0 would be really low +1



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