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USMLE Step 1 Mnemonics Mnemonics, acronyms, reminders, and memorizing tips for the USMLE Step 1.


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Old 12-07-2010
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Smile Fragile X syndrome!

Important findings in Fragile X syndrome= "6M"

1) Mental Retardation

2) Mutation in FMR1 gene on X chromosome (X linked Dominant)

3) Macro jaw(large jaw)

4) Macro orchidism

5) Macrotia (large everted ears)

6) Mitral valve prolapse is associated with it.


(Other points to remember for Fragile X=1)CGG Trinucleotide repeats in non coding region of DNA 2)can cause Attention deficit disorder in females)
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Old 01-24-2011
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fragile x is x linked recessive not dominant.
i just read it in Goljan in the chapter of genetics.
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Old 01-24-2011
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Quote:
Originally Posted by salz View Post
fragile x is x linked recessive not dominant.
i just read it in Goljan in the chapter of genetics.
Also have a look here
Fragile X Syndrome
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Old 01-24-2011
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It's debatable whether it is dominant or recessive - different texts say different things. The variable penetrance that results from both the anticipation of the trinucleotide repeat and the mosaicism of X inactivation makes it confusing. The way we classically think of an x-linked recessive disease, the mutation is phenotypically silent in females. This is not true of Fragile X, so many sources list it as an x-linked dominant. However, with a smaller number of repeats, the mother can have a normal phenotype (so an affected son could inherit from an unaffected mother), so other sources list it as x-linked recessive. Hopefully, given the differing versions, there won't be a question on the exam directly asking whether FXS is recessive or dominant!
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Old 01-26-2011
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oh ok thanks a lot for your help
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Posted By For Type Date
CGG Fragile X Syndrome USMLE - ??????? This thread Refback 02-04-2017 07:26 PM
mnemonics- – Grays Medicine This thread Refback 11-01-2012 09:47 AM

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