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Old 10-31-2012
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Question marfans syndrome

10 yr old girl .the presents with long arms and hyperextensible joints.on she is found to have Lens dislocation;mid systolic click.There is no previous family history.which of the following is the most likely explanation of the pattern?
a)highly variable expression of disease phenotype.
b)incomplete penetrance
c)plieotropy
d)new mutation transmitted by the parents to affected girl
e)mitochondrial inheritance
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Old 10-31-2012
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i think it's D) new mutation ---coz no previous family history

thanks
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  #3  
Old 10-31-2012
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Pleiotropy
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Old 10-31-2012
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Correct Answer

yah the answer is new mutation which has been explained by @venky 2600
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Old 10-31-2012
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Quote:
Originally Posted by subbi View Post
Pleiotropy
marfan syndrome provides a good example of the principle of pleiotropy but they are asking explanation of the pattern in above case,which is new mutation
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