neurogenetic syndromes

Topic: Adult

Created on Saturday, September 2 2006 by

Last modified on Saturday, September 2 2006.

 
        A) Variegate porphyria is associated with chromosomal location 14q.
 
        B) Xeroderma pigmentosa is associated with chromosomal location 9q34.
 
        C) SCA 12 is associated with chromosomal location 5q31.
 
        D) SCA 1 is associated with chromosomal location 9q34.1-34.2.
 
        E) Infantile convulsions is associated with chromosomal location 16p.
 

 

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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) variegate porphyria is associated with chromosomal location 14q.

This answer is incorrect.

The statement, "variegate porphyria is associated with chromosomal location 14q." is true.
variegate porphyria is associated with chromosomal location 14q.  (See References)

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B) xeroderma pigmentosa is associated with chromosomal location 9q34.

This answer is incorrect.

The statement, "xeroderma pigmentosa is associated with chromosomal location 9q34." is true.
xeroderma pigmentosa is associated with chromosomal location 2q21, is associated with chromosomal location 3p25, and is associated with chromosomal location 9q34.  (See References)

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C) SCA 12 is associated with chromosomal location 5q31.

This answer is incorrect.

The statement, "SCA 12 is associated with chromosomal location 5q31." is true.
SCA 12 is associated with chromosomal location 5q31.  (See References)

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D) SCA 1 is associated with chromosomal location 9q34.1-34.2.

This answer is correct.

The statement, "SCA 1 is associated with chromosomal location 9q34.1-34.2." is false.
SCA 1 is associated with chromosomal location 6p24.  (See References)

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E) infantile convulsions is associated with chromosomal location 16p.

This answer is incorrect.

The statement, "infantile convulsions is associated with chromosomal location 16p." is true.
infantile convulsions is associated with chromosomal location 16p.  (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