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neurogenetic syndromes

Topic: Adult

Created on Saturday, September 2 2006 by

Last modified on Saturday, September 2 2006.

Which of the following statements regarding neurogenetic syndromes is FALSE?

 
        A) Giant axonal neuropathy is associated with chromosomal location 16q24.
 
        B) Limb girdle muscular dystrophy is associated with chromosomal location 17q12-q21.33.
 
        C) Coproporhyria is associated with chromosomal location 10q.
 
        D) Dihydrofolate reductase deficiency is associated with chromosomal location 5q11.2-q13.2.
 
        E) Recurrent neuropathy with pressure palsies is associated with chromosomal location 17p11.2.
 

 


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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




A) giant axonal neuropathy is associated with chromosomal location 16q24.

This answer is incorrect.


The statement, "giant axonal neuropathy is associated with chromosomal location 16q24." is true.
giant axonal neuropathy is associated with chromosomal location 16q24.  (See References)

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B) limb girdle muscular dystrophy is associated with chromosomal location 17q12-q21.33.

This answer is incorrect.


The statement, "limb girdle muscular dystrophy is associated with chromosomal location 17q12-q21.33." is true.
limb girdle muscular dystrophy is associated with chromosomal location 2p13-16, is associated with chromosomal location 3p25, and is associated with chromosomal location 17q12-q21.33.  (See References)

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C) coproporhyria is associated with chromosomal location 10q.

This answer is correct.


The statement, "coproporhyria is associated with chromosomal location 10q." is false.
coproporhyria is associated with chromosomal location 9.  (See References)

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D) dihydrofolate reductase deficiency is associated with chromosomal location 5q11.2-q13.2.

This answer is incorrect.


The statement, "dihydrofolate reductase deficiency is associated with chromosomal location 5q11.2-q13.2." is true.
dihydrofolate reductase deficiency is associated with chromosomal location 5q11.2-q13.2.  (See References)

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E) recurrent neuropathy with pressure palsies is associated with chromosomal location 17p11.2.

This answer is incorrect.


The statement, "recurrent neuropathy with pressure palsies is associated with chromosomal location 17p11.2." is true.
recurrent neuropathy with pressure palsies is associated with chromosomal location 17p11.2.  (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
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