nbme 13 concept help…Really need help!

Discussion in 'Step I' started by abelabbot, 05.20.14.

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  1. abelabbot

    abelabbot Banned Banned Account on Hold 2+ Year Member

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    Guys nbme 13 had two questions where I selected anticipation for both of them…i was wrong…I obviously had the right answer as my second choices…but seriously, whats the best way to determine if the question stem is talking about anticipation or something else?

    My reasoning as of now is, if it sounds like anticipation, but they mention mitochon. diz, MOM affected but kids are worse, and other hints pointing to mito. diz, then select heteroplasmy(if thats in the answer choice).

    But what about questions where the stem can sound like both anticipation and ermm lets say variable expression?

    Don't wanna make these mistakes on the real deal…if someone can clear this up for me, that'll be great!
     
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  3. Missorleans

    Missorleans 5+ Year Member

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    Anticipation is going to show a pedigree with autosomal dominant expression, and they will give the ages of each affected individual. You'll notice that the disease presents earlier in each successive generation. Or I guess they could just describe the inheritance in words and let you know that the disease presented at an earlier age in each successive generation.
    That's all anticipation is, the disease presenting earlier in successive generations, because the trinucleotide repeat is expanding. They'll make it obvious by giving you the ages.
     
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  4. abelabbot

    abelabbot Banned Banned Account on Hold 2+ Year Member

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    Thank you for your explanation. Really appreciate it
     

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