neurogenetic syndromes

Topic: Adult

Created on Saturday, September 2 2006 by

Last modified on Saturday, September 2 2006.

 
        A) Recessive limb girdle muscular dystrophy type 2A is associated with chromosomal location 15q15-?22.
 
        B) Juvenile myoclonic epilepsy is associated with chromosomal location 3q21.
 
        C) Sandhoff's disease is associated with chromosomal location 5q13.
 
        D) Acute intermittent porphyria is associated with chromosomal location 11q23.2.
 
        E) Oculopharyngeal muscular dystrophy is associated with chromosomal location 14q11.2-q13.
 

 

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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) 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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B) juvenile myoclonic epilepsy is associated with chromosomal location 3q21.

This answer is correct.

The statement, "juvenile myoclonic epilepsy is associated with chromosomal location 3q21." is false.
juvenile myoclonic epilepsy is associated with chromosomal location 6p24.  (See References)

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C) Sandhoff's disease is associated with chromosomal location 5q13.

This answer is incorrect.

The statement, "Sandhoff's disease is associated with chromosomal location 5q13." is true.
Sandhoff's disease is associated with chromosomal location 5q13.  (See References)

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D) acute intermittent porphyria is associated with chromosomal location 11q23.2.

This answer is incorrect.

The statement, "acute intermittent porphyria is associated with chromosomal location 11q23.2." is true.
acute intermittent porphyria is associated with chromosomal location 11q23.2.  (See References)

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E) 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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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