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paheli
It'sAllAboutGoodKarma  Topics: 207 Posts: 2793 |
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acintya
| Power to Choose...  Topics: 7 Posts: 759
B
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babydoc4usmle
| Forum Guru  Topics: 18 Posts: 627
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: 271
should be DDd...u cant hide autosomal dominant disease
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acintya
| Power to Choose... Topics: 7 Posts: 759
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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babydoc4usmle
| Forum Guru Topics: 18 Posts: 627
in incomplete penetrance you will have disease in grand parent and a patient, but not in parent
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acintya
| Power to Choose... Topics: 7 Posts: 759
Thanks for that clarification babydoc4usmle!!!  I got it now.
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u3846158
| Forum Newbie Topics: 0 Posts: 6
25% of Marfan syndrome patients are caused from de novo mutation of FBN1 gene.
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u3846158
| Forum Newbie Topics: 0 Posts: 6
25% of Marfan syndrome patients are caused from de novo mutation of FBN1 gene. http://clinicalgenetics.blogspot.com
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deja_vu |
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
| Forum Guru  Topics: 73 Posts: 637
what is the answer plz paheli?
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GoodGirl
| . Topics: 154 Posts: 2516
I think D is the right answer too.
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Ig F
| Forum Guru  Topics: 3 Posts: 500
yes its due to the new mutation transmitted by one of the parent....
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usmlekiller
| Forum Newbie  Topics: 23 Posts: 785
d
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dr_puma
| Forum Junior  Topics: 141 Posts: 1549
a
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dr_puma
| Forum Junior Topics: 141 Posts: 1549
sorry D,I checked w paheli www.wrongdiagnosis.com/m/ma...arfan_syndrome/inherit.htm
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brainstem
| Forum Junior  Topics: 30 Posts: 1531
D
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meawanderer
| Forum Newbie  Topics: 2 Posts: 13
D
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Passerby |
D
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backontrack
| Forum Newbie Topics: 2 Posts: 16
hmmm. i thought new mutation is always a wrong .. bt not in this case.. thanks
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