neurogenetic syndromes

Topic: Adult

Created on Saturday, September 2 2006 by

Last modified on Saturday, September 2 2006.

 
        A) Bethlem myopathy is associated with chromosomal location 21q22.3.
 
        B) Limb girdle muscular dystrophy is associated with chromosomal location 3p25.
 
        C) Zellweger's syndrome type II is associated with chromosomal location 1p22-qter.
 
        D) Retinitis pigmentosa is associated with chromosomal location 7q.
 
        E) Usher syndrome type 1B is associated with chromosomal location 22q13-qter.
 

 

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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) Bethlem myopathy is associated with chromosomal location 21q22.3.

This answer is incorrect.

The statement, "Bethlem myopathy is associated with chromosomal location 21q22.3." is true.
Bethlem myopathy is associated with chromosomal location 21q22.3.  (See References)

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B) limb girdle muscular dystrophy is associated with chromosomal location 3p25.

This answer is incorrect.

The statement, "limb girdle muscular dystrophy is associated with chromosomal location 3p25." is true.
limb girdle muscular dystrophy is associated with chromosomal location 2p13-16, is associated with chromosomal location 3p25, and is associated with chromosomal location 17q12-q21.33.  (See References)

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C) Zellweger's syndrome type II is associated with chromosomal location 1p22-qter.

This answer is incorrect.

The statement, "Zellweger's syndrome type II is associated with chromosomal location 1p22-qter." is true.
Zellweger's syndrome type II is associated with chromosomal location 1p22-qter.  (See References)

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D) retinitis pigmentosa is associated with chromosomal location 7q.

This answer is incorrect.

The statement, "retinitis pigmentosa is associated with chromosomal location 7q." is true.
retinitis pigmentosa is associated with chromosomal location 1q, is associated with chromosomal location 3q, is associated with chromosomal location 4p16.3, is associated with chromosomal location 6p21, is associated with chromosomal location 7p15.1-p13, is associated with chromosomal location 7q, is associated with chromosomal location 8p11-q21, is associated with chromosomal location 11q13, is associated with chromosomal location 17p13.3, and is associated with chromosomal location 19q.  (See References)

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E) Usher syndrome type 1B is associated with chromosomal location 22q13-qter.

This answer is correct.

The statement, "Usher syndrome type 1B is associated with chromosomal location 22q13-qter." is false.
Usher syndrome type 1B is associated with chromosomal location 11q13.5.  (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