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 FRAGILE X SYNDROME  



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Author7 Posts
  #1

fragile X syndrome is X linked recessive according to FA,
it is X linked dominant acc to Kaplan.

Which is correct?




  #2

Fragile X syndrome is an X-linked dominant condition with reduced penetrance.


  #3

X linked dominantnod


  #4

It is classified under non-mendelian inheritance & it is X-Linked Inheritance, it does not follow the patterns for normal X-linked recessive or dominant mutation. Females are affected differently than males. The penetrance in male is 100% and females 60%.


  #5

That's a really interesting question...and I say this because I was convinced it was X linked dominant since the females are also affected.Problem is that Goljan RR also puts it in the X recessive category...Kaplan sais it's X-linked dominant,and due to the big percentage of women affected (even if milder), I would go with Kaplan - X linked dominant.
Again,a very interesting issue.


  #6

I think it's been discussed and debated before as wellgrin

https://www.prep4usmle.com/forum/thread/31445/


  #7

I think for USMLE exam purposes we should select what is Kaplan's answer.





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