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Retired NBME 19 Answers

nbme19/Block 2/Question#38 (reveal difficulty score)
Members of the same family have a progressive ...
The number of triplet repeat sequences ๐Ÿ” / ๐Ÿ“บ / ๐ŸŒณ / ๐Ÿ“–
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submitted by โˆ—surgerydoctorca_sgu(6)
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(FA 2021, Pg. 538)

This question is eluding to the genetic concept of "anticipation" which is seen in the condition being described in this stem (Huntington disease).

Huntington disease is the result of a triple repeat expansion (a CAG repeat to be specific). When younger family members present with the disease earlier then the previous generations then we can suspect that they have MORE of these triple repeat expansions (e.g. Son has 1000 CAG repeats and the father has only 100 CAG repeats). Ultimately this leads to an earlier manifestation of the disease.

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drdoom  thanks for adding this to NBME 19! +



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