neurogenetic syndromes

Topic: Adult

Created on Saturday, September 2 2006 by

Last modified on Saturday, September 2 2006.

 
        A) Late infantile lipufucsinosis is associated with chromosomal location 12q21-32.
 
        B) Spastic paraplegia is associated with chromosomal location 14q.
 
        C) Tuberous sclerosis is associated with chromosomal location 9q34.1-34.2.
 
        D) Retinitis pigmentosa is associated with chromosomal location 4p16.3.
 
        E) Giant axonal neuropathy is associated with chromosomal location 3q.
 

 

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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) late infantile lipufucsinosis is associated with chromosomal location 12q21-32.

This answer is incorrect.

The statement, "late infantile lipufucsinosis is associated with chromosomal location 12q21-32." is true.
late infantile lipufucsinosis is associated with chromosomal location 12q21-32.  (See References)

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B) spastic paraplegia is associated with chromosomal location 14q.

This answer is incorrect.

The statement, "spastic paraplegia is associated with chromosomal location 14q." is true.
spastic paraplegia is associated with chromosomal location 14q, and is associated with chromosomal location 16q24.  (See References)

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C) tuberous sclerosis is associated with chromosomal location 9q34.1-34.2.

This answer is incorrect.

The statement, "tuberous sclerosis is associated with chromosomal location 9q34.1-34.2." 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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D) retinitis pigmentosa is associated with chromosomal location 4p16.3.

This answer is incorrect.

The statement, "retinitis pigmentosa is associated with chromosomal location 4p16.3." 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) giant axonal neuropathy is associated with chromosomal location 3q.

This answer is correct.

The statement, "giant axonal neuropathy is associated with chromosomal location 3q." is false.
giant axonal neuropathy is associated with chromosomal location 16q24.  (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