neurogenetic syndromes

Topic: Adult

Created on Saturday, September 2 2006 by

Last modified on Saturday, September 2 2006.

 
        A) Tuberous sclerosis is associated with chromosomal location 11q14-23.
 
        B) Xeroderma pigmentosa is associated with chromosomal location 2q21.
 
        C) Muscular dystrophy is associated with chromosomal location 4q12.
 
        D) Familial spastic paraplegia is associated with chromosomal location 14q.
 
        E) Oculopharyngeal muscular dystrophy is associated with chromosomal location 8q13-21.
 

 

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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) tuberous sclerosis is associated with chromosomal location 11q14-23.

This answer is incorrect.

The statement, "tuberous sclerosis is associated with chromosomal location 11q14-23." is true.
tuberous sclerosis is associated with chromosomal location 9q34.1-34.2, is associated with chromosomal location 11q14-23, and is associated with chromosomal location 16p13.3.  (See References)

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B) xeroderma pigmentosa is associated with chromosomal location 2q21.

This answer is incorrect.

The statement, "xeroderma pigmentosa is associated with chromosomal location 2q21." 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) muscular dystrophy is associated with chromosomal location 4q12.

This answer is incorrect.

The statement, "muscular dystrophy is associated with chromosomal location 4q12." is true.
muscular dystrophy is associated with chromosomal location 4q12, is associated with chromosomal location 5q33-q34, is associated with chromosomal location 6q2, and is associated with chromosomal location 13q12.  (See References)

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D) familial spastic paraplegia is associated with chromosomal location 14q.

This answer is incorrect.

The statement, "familial spastic paraplegia is associated with chromosomal location 14q." is true.
familial spastic paraplegia is associated with chromosomal location 2p21-24, is associated with chromosomal location 8q, is associated with chromosomal location 14q, and is associated with chromosomal location 15q.  (See References)

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E) oculopharyngeal muscular dystrophy is associated with chromosomal location 8q13-21.

This answer is correct.

The statement, "oculopharyngeal muscular dystrophy is associated with chromosomal location 8q13-21." is false.
oculopharyngeal muscular dystrophy is associated with chromosomal location 14q11.2-q13.  (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