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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) Recurrent neuropathy with pressure palsies is associated with chromosomal location 17p11.2.
 
        B) SCA 2 is associated with chromosomal location 12q23-24.1.
 
        C) Homocystinuria is associated with chromosomal location 21q22.3.
 
        D) Cerebrotendinous xanthomatosis is associated with chromosomal location 2q33-qter.
 
        E) Congenital alpha tocopherol transport protein defect is associated with chromosomal location 5q11.2-q13.2.
 

 


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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) recurrent neuropathy with pressure palsies is associated with chromosomal location 17p11.2.

This answer is incorrect.


The statement, "recurrent neuropathy with pressure palsies is associated with chromosomal location 17p11.2." is true.
recurrent neuropathy with pressure palsies is associated with chromosomal location 17p11.2.  (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) homocystinuria is associated with chromosomal location 21q22.3.

This answer is incorrect.


The statement, "homocystinuria is associated with chromosomal location 21q22.3." is true.
homocystinuria is associated with chromosomal location 21q22.3.  (See References)

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D) cerebrotendinous xanthomatosis is associated with chromosomal location 2q33-qter.

This answer is incorrect.


The statement, "cerebrotendinous xanthomatosis is associated with chromosomal location 2q33-qter." is true.
cerebrotendinous xanthomatosis is associated with chromosomal location 2q33-qter.  (See References)

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E) congenital alpha tocopherol transport protein defect is associated with chromosomal location 5q11.2-q13.2.

This answer is correct.


The statement, "congenital alpha tocopherol transport protein defect is associated with chromosomal location 5q11.2-q13.2." is false.
congenital alpha tocopherol transport protein defect is associated with chromosomal location 8q13.  (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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