neurogenetic syndromes

Topic: Adult

Created on Saturday, September 2 2006 by

Last modified on Saturday, September 2 2006.

 
        A) Maple syrup urine disease is associated with chromosomal location 1p31.
 
        B) Hyperexplexia is associated with chromosomal location 5q.
 
        C) Central core myopathy is associated with chromosomal location 19q13.1.
 
        D) Glycogenosis type VII is associated with chromosomal location 14q11.
 
        E) Retinitis pigmentosa is associated with chromosomal location 11q13.
 

 

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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) maple syrup urine disease is associated with chromosomal location 1p31.

This answer is incorrect.

The statement, "maple syrup urine disease is associated with chromosomal location 1p31." is true.
maple syrup urine disease is associated with chromosomal location 1p31, and is associated with chromosomal location 6p22-p21.  (See References)

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B) hyperexplexia is associated with chromosomal location 5q.

This answer is incorrect.

The statement, "hyperexplexia is associated with chromosomal location 5q." is true.
hyperexplexia is associated with chromosomal location 5q.  (See References)

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C) central core myopathy is associated with chromosomal location 19q13.1.

This answer is incorrect.

The statement, "central core myopathy is associated with chromosomal location 19q13.1." is true.
central core myopathy is associated with chromosomal location 19q13.1.  (See References)

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D) glycogenosis type VII is associated with chromosomal location 14q11.

This answer is correct.

The statement, "glycogenosis type VII is associated with chromosomal location 14q11." is false.
glycogenosis type VII is associated with chromosomal location 1cen-q32.  (See References)

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E) retinitis pigmentosa is associated with chromosomal location 11q13.

This answer is incorrect.

The statement, "retinitis pigmentosa is associated with chromosomal location 11q13." 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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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
Estimated Permutations: 0