neurogenetic syndromes

Topic: Adult

Created on Saturday, September 2 2006 by

Last modified on Saturday, September 2 2006.

 
        A) Glycogenosis type VII is associated with chromosomal location 1cen-q32.
 
        B) Charcot-Marie-Tooth (CMT-4C) is associated with chromosomal location 5q23-33.
 
        C) Myopathy due to phosphoglycerate mutase deficiency is associated with chromosomal location 7p13-p12.3.
 
        D) Dentato-rubro-pallido-luysian atrophy (DRPLA) is associated with chromosomal location 12p12-ter.
 
        E) Hypokalemic periodic paralysis is associated with chromosomal location 2q33-qter.
 

 

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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) glycogenosis type VII is associated with chromosomal location 1cen-q32.

This answer is incorrect.

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

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B) Charcot-Marie-Tooth (CMT-4C) is associated with chromosomal location 5q23-33.

This answer is incorrect.

The statement, "Charcot-Marie-Tooth (CMT-4C) is associated with chromosomal location 5q23-33." is true.
Charcot-Marie-Tooth (CMT-4C) is associated with chromosomal location 5q23-33.  (See References)

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C) myopathy due to phosphoglycerate mutase deficiency is associated with chromosomal location 7p13-p12.3.

This answer is incorrect.

The statement, "myopathy due to phosphoglycerate mutase deficiency is associated with chromosomal location 7p13-p12.3." is true.
myopathy due to phosphoglycerate mutase deficiency is associated with chromosomal location 7p13-p12.3.  (See References)

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D) 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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E) hypokalemic periodic paralysis is associated with chromosomal location 2q33-qter.

This answer is correct.

The statement, "hypokalemic periodic paralysis is associated with chromosomal location 2q33-qter." is false.
hypokalemic periodic paralysis is associated with chromosomal location 1q31.  (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