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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) SCA 6 is associated with chromosomal location 14q24.3-32.
 
        B) Xeroderma pigmentosa is associated with chromosomal location 3p25.
 
        C) Benign neonatal seizures is associated with chromosomal location 8q.
 
        D) Friedreich's ataxia is associated with chromosomal location 9q13-21.1.
 
        E) Variegate porphyria is associated with chromosomal location 14q.
 

 


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ANSWERS AND EXPLANATIONS




A) SCA 6 is associated with chromosomal location 14q24.3-32.

This answer is correct.


The statement, "SCA 6 is associated with chromosomal location 14q24.3-32." is false.
SCA 6 is associated with chromosomal location 19p13.  (See References)

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B) xeroderma pigmentosa is associated with chromosomal location 3p25.

This answer is incorrect.


The statement, "xeroderma pigmentosa is associated with chromosomal location 3p25." 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) benign neonatal seizures is associated with chromosomal location 8q.

This answer is incorrect.


The statement, "benign neonatal seizures is associated with chromosomal location 8q." is true.
benign neonatal seizures is associated with chromosomal location 8q.  (See References)

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D) 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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E) 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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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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