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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 7p15.1-p13.
 
        B) Limb girdle muscular dystrophy is associated with chromosomal location 2p13-16.
 
        C) SCA 14 is associated with chromosomal location 8q22-24.
 
        D) Familial amyloid neuropathy is associated with chromosomal location 18q11.2-12.1.
 
        E) Myoshimyopathy is associated with chromosomal location 2p12-14.
 

 


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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 7p15.1-p13.

This answer is incorrect.


The statement, "retinitis pigmentosa is associated with chromosomal location 7p15.1-p13." 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) limb girdle muscular dystrophy is associated with chromosomal location 2p13-16.

This answer is incorrect.


The statement, "limb girdle muscular dystrophy is associated with chromosomal location 2p13-16." is true.
limb girdle muscular dystrophy is associated with chromosomal location 2p13-16, is associated with chromosomal location 3p25, and is associated with chromosomal location 17q12-q21.33.  (See References)

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C) SCA 14 is associated with chromosomal location 8q22-24.

This answer is correct.


The statement, "SCA 14 is associated with chromosomal location 8q22-24." is false.
SCA 14 is associated with chromosomal location 9q13.  (See References)

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D) familial amyloid neuropathy is associated with chromosomal location 18q11.2-12.1.

This answer is incorrect.


The statement, "familial amyloid neuropathy is associated with chromosomal location 18q11.2-12.1." is true.
familial amyloid neuropathy is associated with chromosomal location 18q11.2-12.1.  (See References)

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E) myoshimyopathy is associated with chromosomal location 2p12-14.

This answer is incorrect.


The statement, "myoshimyopathy is associated with chromosomal location 2p12-14." is true.
myoshimyopathy is associated with chromosomal location 2p12-14.  (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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