neurogenetic syndromes

Topic: Adult

Created on Saturday, September 2 2006 by

Last modified on Saturday, September 2 2006.

 
        A) Gaucher's disease is associated with chromosomal location 1q21.
 
        B) Zellweger's syndrome type I is associated with chromosomal location 7q11.23.
 
        C) Nemaline myopathy is associated with chromosomal location 2q21.2-q22.
 
        D) Bethlem myopathy is associated with chromosomal location 21q22.3.
 
        E) Paramyotonia congenita is associated with chromosomal location 6p21.
 

 

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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) Gaucher's disease is associated with chromosomal location 1q21.

This answer is incorrect.

The statement, "Gaucher's disease is associated with chromosomal location 1q21." is true.
Gaucher's disease is associated with chromosomal location 1q21.  (See References)

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B) Zellweger's syndrome type I is associated with chromosomal location 7q11.23.

This answer is incorrect.

The statement, "Zellweger's syndrome type I is associated with chromosomal location 7q11.23." is true.
Zellweger's syndrome type I is associated with chromosomal location 7q11.23.  (See References)

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C) nemaline myopathy is associated with chromosomal location 2q21.2-q22.

This answer is incorrect.

The statement, "nemaline myopathy is associated with chromosomal location 2q21.2-q22." is true.
nemaline myopathy is associated with chromosomal location 2q21.2-q22.  (See References)

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D) Bethlem myopathy is associated with chromosomal location 21q22.3.

This answer is incorrect.

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

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E) paramyotonia congenita is associated with chromosomal location 6p21.

This answer is correct.

The statement, "paramyotonia congenita is associated with chromosomal location 6p21." is false.
paramyotonia congenita is associated with chromosomal location 17q22-24.  (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