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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) Familial dysautonomia is associated with chromosomal location 9q31-33.
 
        B) Familial spastic paraplegia is associated with chromosomal location 14q.
 
        C) SCA 2 is associated with chromosomal location 12q23-24.1.
 
        D) Tuberous sclerosis is associated with chromosomal location 9q34.1-34.2.
 
        E) Blepharophimosis/ovarian failure is associated with chromosomal location 12cen.
 

 


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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) 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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B) familial spastic paraplegia is associated with chromosomal location 14q.

This answer is incorrect.


The statement, "familial spastic paraplegia is associated with chromosomal location 14q." is true.
familial spastic paraplegia is associated with chromosomal location 2p21-24, is associated with chromosomal location 8q, is associated with chromosomal location 14q, and is associated with chromosomal location 15q.  (See References)

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C) SCA 2 is associated with chromosomal location 12q23-24.1.

This answer is incorrect.


The statement, "SCA 2 is associated with chromosomal location 12q23-24.1." is true.
SCA 2 is associated with chromosomal location 12q23-24.1.  (See References)

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

This answer is incorrect.


The statement, "tuberous sclerosis is associated with chromosomal location 9q34.1-34.2." is true.
tuberous sclerosis is associated with chromosomal location 9q34.1-34.2, is associated with chromosomal location 11q14-23, and is associated with chromosomal location 16p13.3.  (See References)

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E) blepharophimosis/ovarian failure is associated with chromosomal location 12cen.

This answer is correct.


The statement, "blepharophimosis/ovarian failure is associated with chromosomal location 12cen." is false.
blepharophimosis/ovarian failure is associated with chromosomal location 3q22-23.  (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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