neurogenetic syndromes

Topic: Adult

Created on Saturday, September 2 2006 by

Last modified on Saturday, September 2 2006.

 
        A) Giant axonal neuropathy is associated with chromosomal location 17q23.
 
        B) Niemann-Pick disease type C is associated with chromosomal location 18p.
 
        C) Canavan leukodystrophy is associated with chromosomal location 17p13.
 
        D) Maple syrup urine disease is associated with chromosomal location 6p22-p21.
 
        E) Gaucher's disease is associated with chromosomal location 1q21.
 

 

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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) giant axonal neuropathy is associated with chromosomal location 17q23.

This answer is correct.

The statement, "giant axonal neuropathy is associated with chromosomal location 17q23." is false.
giant axonal neuropathy is associated with chromosomal location 16q24.  (See References)

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B) Niemann-Pick disease type C is associated with chromosomal location 18p.

This answer is incorrect.

The statement, "Niemann-Pick disease type C is associated with chromosomal location 18p." is true.
Niemann-Pick disease type C is associated with chromosomal location 18p.  (See References)

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C) Canavan leukodystrophy is associated with chromosomal location 17p13.

This answer is incorrect.

The statement, "Canavan leukodystrophy is associated with chromosomal location 17p13." is true.
Canavan leukodystrophy is associated with chromosomal location 17p13.  (See References)

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D) maple syrup urine disease is associated with chromosomal location 6p22-p21.

This answer is incorrect.

The statement, "maple syrup urine disease is associated with chromosomal location 6p22-p21." 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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E) Gaucher's disease is associated with chromosomal location 1q21.

This answer is incorrect.

The statement, "Gaucher's disease is associated with chromosomal location 1q21." is true.
Gaucher's disease is associated with chromosomal location 1q21.  (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