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 Mode of inheritance of Fragile X  



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Author7 Posts
  #1

in Robbins and First Aid it states that the mode of inheritance is SXR(x-linked recessive) but in Kaplan biochem it says it's SXD(dominant) can anyone tell me which i should follow.....i'm leaning towards recessive but just want to confer.
thanks




  #2

IT'S X-LINKED - so, all males are affected, and female if she heterozygous show no physical signs other than early menopause, but they may have learning difficulties or frank retardation.


  #3

Id say x-linked recessive
***X-link dominant is rare, I only know of hypophosphatemia and Vit D dependent rickets.


  #4

actually 30-50%of female carriers who have the full mutation(>240 repeats) will have mental retardation,so even in robbins in one place it says SXD while in another SXR,in the text it says variable inheritance but x-linked.


  #5

In this case of ambiguity, I wouldnt worry if anything i could see the usmle just having multiple choice with:
autosomal dominant
"""""""" recessive
mitochondrial
x -linked
y- linked
multifactorial

Ill return with more info.


  #6

YES you r right many books says it SXD AND SOME S says it is SXR I WILL GO W/ SXD .DiaHuq


  #7

alport is also x-linked dominant... (plus vit d res and fragile x)... doubtful they would ask it on step one, but at least it helps remeber that these diseases are xlinked





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