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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) Usher syndrome type 1A is associated with chromosomal location 14q32.
 
        B) Friedreich's ataxia is associated with chromosomal location 9q13-21.1.
 
        C) Familial spastic paraplegia is associated with chromosomal location 15q.
 
        D) Congenital myasthenic syndromes is associated with chromosomal location 2q.
 
        E) Retinitis pigmentosa is associated with chromosomal location 18q11.2-12.1.
 

 


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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) Usher syndrome type 1A is associated with chromosomal location 14q32.

This answer is incorrect.


The statement, "Usher syndrome type 1A is associated with chromosomal location 14q32." is true.
Usher syndrome type 1A is associated with chromosomal location 14q32.  (See References)

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B) Friedreich's ataxia is associated with chromosomal location 9q13-21.1.

This answer is incorrect.


The statement, "Friedreich's ataxia is associated with chromosomal location 9q13-21.1." is true.
Friedreich's ataxia is associated with chromosomal location 9q13-21.1.  (See References)

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C) familial spastic paraplegia is associated with chromosomal location 15q.

This answer is incorrect.


The statement, "familial spastic paraplegia is associated with chromosomal location 15q." is true.
familial spastic paraplegia is associated with chromosomal location 2p21-24, is associated with chromosomal location 8q, is associated with chromosomal location 14q, and is associated with chromosomal location 15q.  (See References)

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D) congenital myasthenic syndromes is associated with chromosomal location 2q.

This answer is incorrect.


The statement, "congenital myasthenic syndromes is associated with chromosomal location 2q." is true.
congenital myasthenic syndromes is associated with chromosomal location 2q.  (See References)

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E) retinitis pigmentosa is associated with chromosomal location 18q11.2-12.1.

This answer is correct.


The statement, "retinitis pigmentosa is associated with chromosomal location 18q11.2-12.1." is false.
retinitis pigmentosa is associated with chromosomal location 1q, is associated with chromosomal location 3q, is associated with chromosomal location 4p16.3, is associated with chromosomal location 6p21, is associated with chromosomal location 7p15.1-p13, is associated with chromosomal location 7q, is associated with chromosomal location 8p11-q21, is associated with chromosomal location 11q13, is associated with chromosomal location 17p13.3, and is associated with chromosomal location 19q.  (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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