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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) Dopa-responsive dystonia is associated with chromosomal location 14q.
 
        B) Bilateral acoustic neurofibromatosis is associated with chromosomal location 22q11-13.1.
 
        C) SCA 3 is associated with chromosomal location 7p13-p12.3.
 
        D) Juvenile myoclonic epilepsy is associated with chromosomal location 6p24.
 
        E) Retinitis pigmentosa is associated with chromosomal location 7p15.1-p13.
 

 


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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) dopa-responsive dystonia is associated with chromosomal location 14q.

This answer is incorrect.


The statement, "dopa-responsive dystonia is associated with chromosomal location 14q." is true.
dopa-responsive dystonia is associated with chromosomal location 14q.  (See References)

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B) bilateral acoustic neurofibromatosis is associated with chromosomal location 22q11-13.1.

This answer is incorrect.


The statement, "bilateral acoustic neurofibromatosis is associated with chromosomal location 22q11-13.1." is true.
bilateral acoustic neurofibromatosis is associated with chromosomal location 22q11-13.1.  (See References)

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C) SCA 3 is associated with chromosomal location 7p13-p12.3.

This answer is correct.


The statement, "SCA 3 is associated with chromosomal location 7p13-p12.3." is false.
SCA 3 is associated with chromosomal location 14q24.3-32.  (See References)

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D) juvenile myoclonic epilepsy is associated with chromosomal location 6p24.

This answer is incorrect.


The statement, "juvenile myoclonic epilepsy is associated with chromosomal location 6p24." is true.
juvenile myoclonic epilepsy is associated with chromosomal location 6p24.  (See References)

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E) retinitis pigmentosa is associated with chromosomal location 7p15.1-p13.

This answer is incorrect.


The statement, "retinitis pigmentosa is associated with chromosomal location 7p15.1-p13." 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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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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