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neurogenetic syndromes

Topic: Adult

Created on Saturday, September 2 2006 by

Last modified on Saturday, September 2 2006.

Which of the following statements regarding neurogenetic syndromes is FALSE?

 
        A) Wilson's disease is associated with chromosomal location 13q14.2.
 
        B) SCA 2 is associated with chromosomal location 12q23-24.1.
 
        C) Xeroderma pigmentosa is associated with chromosomal location 9q34.
 
        D) Coproporhyria is associated with chromosomal location 8p.
 
        E) Dopa-responsive dystonia is associated with chromosomal location 14q.
 

 


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This question was created on September 02, 2006 by .
This question was last modified on September 02, 2006.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS




A) Wilson's disease is associated with chromosomal location 13q14.2.

This answer is incorrect.


The statement, "Wilson's disease is associated with chromosomal location 13q14.2." is true.
Wilson's disease is associated with chromosomal location 13q14.2.  (See References)

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B) SCA 2 is associated with chromosomal location 12q23-24.1.

This answer is incorrect.


The statement, "SCA 2 is associated with chromosomal location 12q23-24.1." is true.
SCA 2 is associated with chromosomal location 12q23-24.1.  (See References)

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C) xeroderma pigmentosa is associated with chromosomal location 9q34.

This answer is incorrect.


The statement, "xeroderma pigmentosa is associated with chromosomal location 9q34." is true.
xeroderma pigmentosa is associated with chromosomal location 2q21, is associated with chromosomal location 3p25, and is associated with chromosomal location 9q34.  (See References)

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D) coproporhyria is associated with chromosomal location 8p.

This answer is correct.


The statement, "coproporhyria is associated with chromosomal location 8p." is false.
coproporhyria is associated with chromosomal location 9.  (See References)

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E) dopa-responsive dystonia is associated with chromosomal location 14q.

This answer is incorrect.


The statement, "dopa-responsive dystonia is associated with chromosomal location 14q." is true.
dopa-responsive dystonia is associated with chromosomal location 14q.  (See References)

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References:

1. Bird, T.D., and Tapscott, S.J. K.M. (2004). Clinical Neurogenetics. In Bradley, W.G., Daroff, R.B., Fenichel, G.M., and Jankovic, J. (Eds.). Neurology in Clinical Practice, 4th Edition. Butterworth Heinemann, Philadelphia. Pp. 781-808.
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adult
neurogenetic syndromes
Question ID: 095325505
Question written by . (C) FrontalCortex.com 2006-2009, all rights reserved. Created: 09/02/2006
Modified: 09/02/2006
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