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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) Retinitis pigmentosa is associated with chromosomal location 1q.
 
        B) Essential tremor is associated with chromosomal location 3q13.
 
        C) Retinitis pigmentosa is associated with chromosomal location 8p11-q21.
 
        D) Variegate porphyria is associated with chromosomal location 14q.
 
        E) Infantile ceroid lipofuscinosis is associated with chromosomal location 5q33-q34.
 

 


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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) retinitis pigmentosa is associated with chromosomal location 1q.

This answer is incorrect.


The statement, "retinitis pigmentosa is associated with chromosomal location 1q." is true.
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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B) essential tremor is associated with chromosomal location 3q13.

This answer is incorrect.


The statement, "essential tremor is associated with chromosomal location 3q13." is true.
essential tremor is associated with chromosomal location 3q13.  (See References)

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C) retinitis pigmentosa is associated with chromosomal location 8p11-q21.

This answer is incorrect.


The statement, "retinitis pigmentosa is associated with chromosomal location 8p11-q21." is true.
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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D) variegate porphyria is associated with chromosomal location 14q.

This answer is incorrect.


The statement, "variegate porphyria is associated with chromosomal location 14q." is true.
variegate porphyria is associated with chromosomal location 14q.  (See References)

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E) infantile ceroid lipofuscinosis is associated with chromosomal location 5q33-q34.

This answer is correct.


The statement, "infantile ceroid lipofuscinosis is associated with chromosomal location 5q33-q34." is false.
infantile ceroid lipofuscinosis is associated with chromosomal location 1p32.  (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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