neurogenetic syndromes

Topic: Adult

Created on Saturday, September 2 2006 by

Last modified on Saturday, September 2 2006.

 
        A) Distal myopathy is associated with chromosomal location 14q11.
 
        B) Mannosidosis is associated with chromosomal location 19p.
 
        C) Hurler and Hurler-Scheie syndrome is associated with chromosomal location 4p16.3.
 
        D) Congenital myasthenic slow channel syndrome is associated with chromosomal location 22q11-13.1.
 
        E) Familial dysautonomia 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

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A) 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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B) mannosidosis is associated with chromosomal location 19p.

This answer is incorrect.

The statement, "mannosidosis is associated with chromosomal location 19p." is true.
mannosidosis is associated with chromosomal location 19p.  (See References)

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C) Hurler and Hurler-Scheie syndrome is associated with chromosomal location 4p16.3.

This answer is incorrect.

The statement, "Hurler and Hurler-Scheie syndrome is associated with chromosomal location 4p16.3." is true.
Hurler and Hurler-Scheie syndrome is associated with chromosomal location 4p16.3.  (See References)

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D) congenital myasthenic slow channel syndrome is associated with chromosomal location 22q11-13.1.

This answer is correct.

The statement, "congenital myasthenic slow channel syndrome is associated with chromosomal location 22q11-13.1." is false.
congenital myasthenic slow channel syndrome is associated with chromosomal location 17p.  (See References)

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E) familial dysautonomia is associated with chromosomal location 9q31-33.

This answer is incorrect.

The statement, "familial dysautonomia is associated with chromosomal location 9q31-33." is true.
familial dysautonomia 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
Estimated Permutations: 0