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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) Juvenile spinal muscular atrophy is associated with chromosomal location 5q11.2-13.3.
 
        B) Familial amyloid neuropathy is associated with chromosomal location 18q11.2-12.1.
 
        C) Congenital myasthenic syndromes is associated with chromosomal location 2q.
 
        D) Charcot-Marie-Tooth (CMT-4B) is associated with chromosomal location 12q23-24.1.
 
        E) Juvenile lipofuscinosis is associated with chromosomal location 16p12.
 

 


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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) juvenile spinal muscular atrophy is associated with chromosomal location 5q11.2-13.3.

This answer is incorrect.


The statement, "juvenile spinal muscular atrophy is associated with chromosomal location 5q11.2-13.3." is true.
juvenile spinal muscular atrophy is associated with chromosomal location 5q11.2-13.3.  (See References)

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B) familial amyloid neuropathy is associated with chromosomal location 18q11.2-12.1.

This answer is incorrect.


The statement, "familial amyloid neuropathy is associated with chromosomal location 18q11.2-12.1." is true.
familial amyloid neuropathy is associated with chromosomal location 18q11.2-12.1.  (See References)

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C) congenital myasthenic syndromes is associated with chromosomal location 2q.

This answer is incorrect.


The statement, "congenital myasthenic syndromes is associated with chromosomal location 2q." is true.
congenital myasthenic syndromes is associated with chromosomal location 2q.  (See References)

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D) Charcot-Marie-Tooth (CMT-4B) is associated with chromosomal location 12q23-24.1.

This answer is correct.


The statement, "Charcot-Marie-Tooth (CMT-4B) is associated with chromosomal location 12q23-24.1." is false.
Charcot-Marie-Tooth (CMT-4B) is associated with chromosomal location 11q23.  (See References)

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E) juvenile lipofuscinosis is associated with chromosomal location 16p12.

This answer is incorrect.


The statement, "juvenile lipofuscinosis is associated with chromosomal location 16p12." is true.
juvenile lipofuscinosis is associated with chromosomal location 16p12.  (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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