neurogenetic syndromes

Topic: Adult

Created on Saturday, September 2 2006 by

Last modified on Saturday, September 2 2006.

 
        A) Hyperexplexia is associated with chromosomal location 5q.
 
        B) Argininosuccinicaciduria is associated with chromosomal location 7pter-q22.
 
        C) Lafora body myoclonic epilepsy is associated with chromosomal location 6q24.
 
        D) Nemaline myopathy is associated with chromosomal location 4q21-q23.
 
        E) Niemann-Pick disease type C is associated with chromosomal location 18p.
 

 

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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

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A) hyperexplexia is associated with chromosomal location 5q.

This answer is incorrect.

The statement, "hyperexplexia is associated with chromosomal location 5q." is true.
hyperexplexia is associated with chromosomal location 5q.  (See References)

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B) argininosuccinicaciduria is associated with chromosomal location 7pter-q22.

This answer is incorrect.

The statement, "argininosuccinicaciduria is associated with chromosomal location 7pter-q22." is true.
argininosuccinicaciduria is associated with chromosomal location 7pter-q22.  (See References)

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C) Lafora body myoclonic epilepsy is associated with chromosomal location 6q24.

This answer is incorrect.

The statement, "Lafora body myoclonic epilepsy is associated with chromosomal location 6q24." is true.
Lafora body myoclonic epilepsy is associated with chromosomal location 6q24.  (See References)

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D) nemaline myopathy is associated with chromosomal location 4q21-q23.

This answer is correct.

The statement, "nemaline myopathy is associated with chromosomal location 4q21-q23." is false.
nemaline myopathy is associated with chromosomal location 2q21.2-q22.  (See References)

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E) Niemann-Pick disease type C is associated with chromosomal location 18p.

This answer is incorrect.

The statement, "Niemann-Pick disease type C is associated with chromosomal location 18p." is true.
Niemann-Pick disease type C is associated with chromosomal location 18p.  (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
Estimated Permutations: 0