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) Late infantile lipufucsinosis is associated with chromosomal location 12q21-32.
 
        C) Muscular dystrophy is associated with chromosomal location 13q12.
 
        D) Argininosuccinicaciduria is associated with chromosomal location 10q22.
 
        E) Niemann-Pick disease types A and B is associated with chromosomal location 11p15.
 

 

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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) late infantile lipufucsinosis is associated with chromosomal location 12q21-32.

This answer is incorrect.

The statement, "late infantile lipufucsinosis is associated with chromosomal location 12q21-32." is true.
late infantile lipufucsinosis is associated with chromosomal location 12q21-32.  (See References)

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C) muscular dystrophy is associated with chromosomal location 13q12.

This answer is incorrect.

The statement, "muscular dystrophy is associated with chromosomal location 13q12." is true.
muscular dystrophy is associated with chromosomal location 4q12, is associated with chromosomal location 5q33-q34, is associated with chromosomal location 6q2, and is associated with chromosomal location 13q12.  (See References)

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D) argininosuccinicaciduria is associated with chromosomal location 10q22.

This answer is correct.

The statement, "argininosuccinicaciduria is associated with chromosomal location 10q22." is false.
argininosuccinicaciduria is associated with chromosomal location 7pter-q22.  (See References)

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E) Niemann-Pick disease types A and B is associated with chromosomal location 11p15.

This answer is incorrect.

The statement, "Niemann-Pick disease types A and B is associated with chromosomal location 11p15." is true.
Niemann-Pick disease types A and B is associated with chromosomal location 11p15.  (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