neurogenetic syndromes

Topic: Adult

Created on Saturday, September 2 2006 by

Last modified on Saturday, September 2 2006.

 
        A) Retinitis pigmentosa is associated with chromosomal location 17p13.3.
 
        B) Dentato-rubro-pallido-luysian atrophy (DRPLA) is associated with chromosomal location 12p12-ter.
 
        C) SCA 1 is associated with chromosomal location 6p24.
 
        D) SCA 14 is associated with chromosomal location 9q13.
 
        E) McArdle's disease is associated with chromosomal location 9q33.
 

 

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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

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A) retinitis pigmentosa is associated with chromosomal location 17p13.3.

This answer is incorrect.

The statement, "retinitis pigmentosa is associated with chromosomal location 17p13.3." 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) dentato-rubro-pallido-luysian atrophy (DRPLA) is associated with chromosomal location 12p12-ter.

This answer is incorrect.

The statement, "dentato-rubro-pallido-luysian atrophy (DRPLA) is associated with chromosomal location 12p12-ter." is true.
dentato-rubro-pallido-luysian atrophy (DRPLA) is associated with chromosomal location 12p12-ter.  (See References)

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C) SCA 1 is associated with chromosomal location 6p24.

This answer is incorrect.

The statement, "SCA 1 is associated with chromosomal location 6p24." is true.
SCA 1 is associated with chromosomal location 6p24.  (See References)

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D) SCA 14 is associated with chromosomal location 9q13.

This answer is incorrect.

The statement, "SCA 14 is associated with chromosomal location 9q13." is true.
SCA 14 is associated with chromosomal location 9q13.  (See References)

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E) McArdle's disease is associated with chromosomal location 9q33.

This answer is correct.

The statement, "McArdle's disease is associated with chromosomal location 9q33." is false.
McArdle's disease is associated with chromosomal location 11q13.  (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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FrontalCortex.com -- Neurology Review Questions -- Neurology Boards -- Board Review -- Residency Inservice Training Exam -- RITE Exam Review
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
Estimated Permutations: 0