paheli
It'sAllAboutGoodKarma
Topics: 150
Posts: 1,979
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Prepare as if you're the worst, Perform as if you're the best! As you dream, so you manifest. So, DREAM BIG!! When you face hardship, remember, God never gives you more than you can handle. Success is the best revenge! He's my boyf! And, yea, I'm lying...:-(
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| acintya
FOCUS on your Goal!
Topics: 6
Posts: 760
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B
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The more a memory has been encoded, elaborated, organized, and structured, the easier it will be to retrieve.
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| babydoc4usmle
Forum Guru
Topics: 18
Posts: 634
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incomplete penetrance suppose to give you some kind of history in pedigree, in this case most likely it will be a new mutation
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| darkhorse
Forum Elite
Topics: 56
Posts: 275
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should be DDd...u cant hide autosomal dominant disease
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When going gets tough, the tough gets going
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| mikky
Forum Senior
Topics: 12
Posts: 200
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d
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time to go back to books...
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| acintya
FOCUS on your Goal!
Topics: 6
Posts: 760
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Yeah I was wrong...new mutation does seem right.. I got a bit confused ...cos was thinking only about the fact that in Incomplete penetrance, the patient does NOT have the disease phenotype/ symptoms and only has the mutation....
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The more a memory has been encoded, elaborated, organized, and structured, the easier it will be to retrieve.
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| babydoc4usmle
Forum Guru
Topics: 18
Posts: 634
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in incomplete penetrance you will have disease in grand parent and a patient, but not in parent
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| acintya
FOCUS on your Goal!
Topics: 6
Posts: 760
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Thanks for that clarification babydoc4usmle!!!  I got it now.
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The more a memory has been encoded, elaborated, organized, and structured, the easier it will be to retrieve.
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| u3846158
Forum Newbie
Topics: 0
Posts: 7
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25% of Marfan syndrome patients are caused from de novo mutation of FBN1 gene.
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| u3846158
Forum Newbie
Topics: 0
Posts: 7
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25% of Marfan syndrome patients are caused from de novo mutation of FBN1 gene.
http://clinicalgenetics.blogspot.com
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| deja_vu
Forum Senior
Topics: 6
Posts: 182
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u386158,
wow.. [I first thought was that why would USMLE ask such a rare thing like a rare kind of spontaneous mutation in a rare genetic disease. but !@#$%^& it doesn't seem that rare]
I had always thought de novo mutations of such established genetic syndromes are rare.You taught me something. thanks.
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| yoga
usmlelogy professor
Topics: 73
Posts: 652
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what is the answer plz paheli?
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we are all in the gutter but some of us looking at the stars
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| GoodGirl
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Topics: 88
Posts: 1,175
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I think D is the right answer too.
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