neurogenetic syndromes

Topic: Adult

Created on Saturday, September 2 2006 by

Last modified on Saturday, September 2 2006.

 
        A) Dihydrofolate reductase deficiency is associated with chromosomal location 5q11.2-q13.2.
 
        B) Beta-galactosidase I is associated with chromosomal location 3pter-3p21.
 
        C) Oculopharyngeal muscular dystrophy is associated with chromosomal location 14q11.2-q13.
 
        D) SCA 2 is associated with chromosomal location 7p13-p12.3.
 
        E) Recessive limb girdle muscular dystrophy type 2A is associated with chromosomal location 15q15-?22.
 

 

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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) dihydrofolate reductase deficiency is associated with chromosomal location 5q11.2-q13.2.

This answer is incorrect.

The statement, "dihydrofolate reductase deficiency is associated with chromosomal location 5q11.2-q13.2." is true.
dihydrofolate reductase deficiency is associated with chromosomal location 5q11.2-q13.2.  (See References)

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B) beta-galactosidase I is associated with chromosomal location 3pter-3p21.

This answer is incorrect.

The statement, "beta-galactosidase I is associated with chromosomal location 3pter-3p21." is true.
beta-galactosidase I is associated with chromosomal location 3pter-3p21.  (See References)

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C) oculopharyngeal muscular dystrophy is associated with chromosomal location 14q11.2-q13.

This answer is incorrect.

The statement, "oculopharyngeal muscular dystrophy is associated with chromosomal location 14q11.2-q13." is true.
oculopharyngeal muscular dystrophy is associated with chromosomal location 14q11.2-q13.  (See References)

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D) SCA 2 is associated with chromosomal location 7p13-p12.3.

This answer is correct.

The statement, "SCA 2 is associated with chromosomal location 7p13-p12.3." is false.
SCA 2 is associated with chromosomal location 12q23-24.1.  (See References)

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E) recessive limb girdle muscular dystrophy type 2A is associated with chromosomal location 15q15-?22.

This answer is incorrect.

The statement, "recessive limb girdle muscular dystrophy type 2A is associated with chromosomal location 15q15-?22." is true.
recessive limb girdle muscular dystrophy type 2A is associated with chromosomal location 15q15-?22.  (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