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) Hallervorden-Spatz disease is associated with chromosomal location 20p13.
 
        C) Familial dysautonomia is associated with chromosomal location 9q31-33.
 
        D) Charcot-Marie-Tooth (CMT-1A) is associated with chromosomal location 17p11.2.
 
        E) Blepharophimosis/ovarian failure is associated with chromosomal location 11q13.5.
 

 

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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) Hallervorden-Spatz disease is associated with chromosomal location 20p13.

This answer is incorrect.

The statement, "Hallervorden-Spatz disease is associated with chromosomal location 20p13." is true.
Hallervorden-Spatz disease is associated with chromosomal location 20p13.  (See References)

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C) familial dysautonomia is associated with chromosomal location 9q31-33.

This answer is incorrect.

The statement, "familial dysautonomia is associated with chromosomal location 9q31-33." is true.
familial dysautonomia is associated with chromosomal location 9q31-33.  (See References)

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D) Charcot-Marie-Tooth (CMT-1A) is associated with chromosomal location 17p11.2.

This answer is incorrect.

The statement, "Charcot-Marie-Tooth (CMT-1A) is associated with chromosomal location 17p11.2." is true.
Charcot-Marie-Tooth (CMT-1A) is associated with chromosomal location 17p11.2.  (See References)

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E) blepharophimosis/ovarian failure is associated with chromosomal location 11q13.5.

This answer is correct.

The statement, "blepharophimosis/ovarian failure is associated with chromosomal location 11q13.5." is false.
blepharophimosis/ovarian failure is associated with chromosomal location 3q22-23.  (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