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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) Ataxia telangiectasia is associated with chromosomal location 11q23.
 
        B) Infantile spinal muscular atrophy is associated with chromosomal location 15q15-?22.
 
        C) Tay-Sachs disease is associated with chromosomal location 15q23-24.
 
        D) Early onset familial Alzheimer's disease is associated with chromosomal location 21q11-22.
 
        E) Distal myopathy is associated with chromosomal location 14q11.
 

 


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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) ataxia telangiectasia is associated with chromosomal location 11q23.

This answer is incorrect.


The statement, "ataxia telangiectasia is associated with chromosomal location 11q23." is true.
ataxia telangiectasia is associated with chromosomal location 11q23.  (See References)

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B) infantile spinal muscular atrophy is associated with chromosomal location 15q15-?22.

This answer is correct.


The statement, "infantile spinal muscular atrophy is associated with chromosomal location 15q15-?22." is false.
infantile spinal muscular atrophy is associated with chromosomal location 5q11.2-13.3.  (See References)

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C) Tay-Sachs disease is associated with chromosomal location 15q23-24.

This answer is incorrect.


The statement, "Tay-Sachs disease is associated with chromosomal location 15q23-24." is true.
Tay-Sachs disease is associated with chromosomal location 15q23-24.  (See References)

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D) early onset familial Alzheimer's disease is associated with chromosomal location 21q11-22.

This answer is incorrect.


The statement, "early onset familial Alzheimer's disease is associated with chromosomal location 21q11-22." is true.
early onset familial Alzheimer's disease is associated with chromosomal location 1q31-42, is associated with chromosomal location 14q24.3, and is associated with chromosomal location 21q11-22.  (See References)

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E) distal myopathy is associated with chromosomal location 14q11.

This answer is incorrect.


The statement, "distal myopathy is associated with chromosomal location 14q11." is true.
distal myopathy is associated with chromosomal location 14q11.  (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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