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 7q.
 
        B) Atypical myotonia congenita is associated with chromosomal location 17q22-24.
 
        C) Recurrent neuropathy with pressure palsies is associated with chromosomal location 1q21-23.
 
        D) Homocystinuria is associated with chromosomal location 21q22.3.
 
        E) Hurler and Hurler-Scheie syndrome is associated with chromosomal location 4p16.3.
 

 

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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 7q.

This answer is incorrect.

The statement, "retinitis pigmentosa is associated with chromosomal location 7q." 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) atypical myotonia congenita is associated with chromosomal location 17q22-24.

This answer is incorrect.

The statement, "atypical myotonia congenita is associated with chromosomal location 17q22-24." is true.
atypical myotonia congenita is associated with chromosomal location 17q22-24.  (See References)

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C) recurrent neuropathy with pressure palsies is associated with chromosomal location 1q21-23.

This answer is correct.

The statement, "recurrent neuropathy with pressure palsies is associated with chromosomal location 1q21-23." is false.
recurrent neuropathy with pressure palsies is associated with chromosomal location 17p11.2.  (See References)

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D) homocystinuria is associated with chromosomal location 21q22.3.

This answer is incorrect.

The statement, "homocystinuria is associated with chromosomal location 21q22.3." is true.
homocystinuria is associated with chromosomal location 21q22.3.  (See References)

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E) Hurler and Hurler-Scheie syndrome is associated with chromosomal location 4p16.3.

This answer is incorrect.

The statement, "Hurler and Hurler-Scheie syndrome is associated with chromosomal location 4p16.3." is true.
Hurler and Hurler-Scheie syndrome is associated with chromosomal location 4p16.3.  (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