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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) Blepharophimosis/ovarian failure is associated with chromosomal location 1p35-36.
 
        B) Xeroderma pigmentosa is associated with chromosomal location 9q34.
 
        C) Friedreich's ataxia is associated with chromosomal location 9q13-21.1.
 
        D) Simple partial epilepsy with auditory features is associated with chromosomal location 10q22.
 
        E) Walker-Warburg syndrome is associated with chromosomal location 9q31-33.
 

 


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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) blepharophimosis/ovarian failure is associated with chromosomal location 1p35-36.

This answer is correct.


The statement, "blepharophimosis/ovarian failure is associated with chromosomal location 1p35-36." is false.
blepharophimosis/ovarian failure is associated with chromosomal location 3q22-23.  (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) Friedreich's ataxia is associated with chromosomal location 9q13-21.1.

This answer is incorrect.


The statement, "Friedreich's ataxia is associated with chromosomal location 9q13-21.1." is true.
Friedreich's ataxia is associated with chromosomal location 9q13-21.1.  (See References)

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D) simple partial epilepsy with auditory features is associated with chromosomal location 10q22.

This answer is incorrect.


The statement, "simple partial epilepsy with auditory features is associated with chromosomal location 10q22." is true.
simple partial epilepsy with auditory features is associated with chromosomal location 10q22.  (See References)

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E) Walker-Warburg syndrome is associated with chromosomal location 9q31-33.

This answer is incorrect.


The statement, "Walker-Warburg syndrome is associated with chromosomal location 9q31-33." is true.
Walker-Warburg syndrome is associated with chromosomal location 9q31-33.  (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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