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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) Congenital myasthenic slow channel syndrome is associated with chromosomal location 17p.
 
        B) Spastic ataxia is associated with chromosomal location 13q11.
 
        C) Dihydrofolate reductase deficiency is associated with chromosomal location 19p13.
 
        D) Xeroderma pigmentosa is associated with chromosomal location 2q21.
 
        E) Paramyotonia congenita is associated with chromosomal location 17q22-24.
 

 


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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) congenital myasthenic slow channel syndrome is associated with chromosomal location 17p.

This answer is incorrect.


The statement, "congenital myasthenic slow channel syndrome is associated with chromosomal location 17p." is true.
congenital myasthenic slow channel syndrome is associated with chromosomal location 17p.  (See References)

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B) spastic ataxia is associated with chromosomal location 13q11.

This answer is incorrect.


The statement, "spastic ataxia is associated with chromosomal location 13q11." is true.
spastic ataxia is associated with chromosomal location 13q11.  (See References)

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C) dihydrofolate reductase deficiency is associated with chromosomal location 19p13.

This answer is correct.


The statement, "dihydrofolate reductase deficiency is associated with chromosomal location 19p13." is false.
dihydrofolate reductase deficiency is associated with chromosomal location 5q11.2-q13.2.  (See References)

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D) xeroderma pigmentosa is associated with chromosomal location 2q21.

This answer is incorrect.


The statement, "xeroderma pigmentosa is associated with chromosomal location 2q21." 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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E) paramyotonia congenita is associated with chromosomal location 17q22-24.

This answer is incorrect.


The statement, "paramyotonia congenita is associated with chromosomal location 17q22-24." is true.
paramyotonia congenita is associated with chromosomal location 17q22-24.  (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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