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 4p16.3.
 
        B) Charcot-Marie-Tooth (CMT-4A) is associated with chromosomal location 8q13-21.
 
        C) British dementia is associated with chromosomal location 5q13.
 
        D) Maple syrup urine disease is associated with chromosomal location 1p31.
 
        E) Glycogenosis type VII is associated with chromosomal location 1cen-q32.
 

 

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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 4p16.3.

This answer is incorrect.

The statement, "retinitis pigmentosa is associated with chromosomal location 4p16.3." 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) Charcot-Marie-Tooth (CMT-4A) is associated with chromosomal location 8q13-21.

This answer is incorrect.

The statement, "Charcot-Marie-Tooth (CMT-4A) is associated with chromosomal location 8q13-21." is true.
Charcot-Marie-Tooth (CMT-4A) is associated with chromosomal location 8q13-21.  (See References)

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C) British dementia is associated with chromosomal location 5q13.

This answer is correct.

The statement, "British dementia is associated with chromosomal location 5q13." is false.
British dementia is associated with a genetic defect on chromosome 13.  (See References)

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D) 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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E) 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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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