neurogenetic syndromes

Topic: Adult

Created on Saturday, September 2 2006 by

Last modified on Saturday, September 2 2006.

 
        A) Beta-galactosidase I is associated with chromosomal location 3pter-3p21.
 
        B) Niemann-Pick disease type C is associated with chromosomal location 21q22.1-22.2.
 
        C) Usher syndrome type 1A is associated with chromosomal location 14q32.
 
        D) Familial dysautonomia is associated with chromosomal location 9q31-33.
 
        E) Retinitis pigmentosa is associated with chromosomal location 7p15.1-p13.
 

 

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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) beta-galactosidase I is associated with chromosomal location 3pter-3p21.

This answer is incorrect.

The statement, "beta-galactosidase I is associated with chromosomal location 3pter-3p21." is true.
beta-galactosidase I is associated with chromosomal location 3pter-3p21.  (See References)

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B) Niemann-Pick disease type C is associated with chromosomal location 21q22.1-22.2.

This answer is correct.

The statement, "Niemann-Pick disease type C is associated with chromosomal location 21q22.1-22.2." is false.
Niemann-Pick disease type C is associated with chromosomal location 18p.  (See References)

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C) Usher syndrome type 1A is associated with chromosomal location 14q32.

This answer is incorrect.

The statement, "Usher syndrome type 1A is associated with chromosomal location 14q32." is true.
Usher syndrome type 1A is associated with chromosomal location 14q32.  (See References)

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D) 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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E) retinitis pigmentosa is associated with chromosomal location 7p15.1-p13.

This answer is incorrect.

The statement, "retinitis pigmentosa is associated with chromosomal location 7p15.1-p13." 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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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