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neurogenetic syndromes

Topic: Adult

Created on Saturday, September 2 2006 by

Last modified on Saturday, September 2 2006.

Which of the following statements regarding neurogenetic syndromes is FALSE?

 
        A) Retinitis pigmentosa is associated with chromosomal location 1q.
 
        B) Infantile ceroid lipofuscinosis is associated with chromosomal location 1p32.
 
        C) Benign neonatal seizures is associated with a genetic defect on chromosome 11.
 
        D) Juvenile myoclonic epilepsy is associated with chromosomal location 6p24.
 
        E) Paramyotonia congenita is associated with chromosomal location 17q22-24.
 

 


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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




A) retinitis pigmentosa is associated with chromosomal location 1q.

This answer is incorrect.


The statement, "retinitis pigmentosa is associated with chromosomal location 1q." 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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B) infantile ceroid lipofuscinosis is associated with chromosomal location 1p32.

This answer is incorrect.


The statement, "infantile ceroid lipofuscinosis is associated with chromosomal location 1p32." is true.
infantile ceroid lipofuscinosis is associated with chromosomal location 1p32.  (See References)

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C) benign neonatal seizures is associated with a genetic defect on chromosome 11.

This answer is correct.


The statement, "benign neonatal seizures is associated with a genetic defect on chromosome 11." is false.
benign neonatal seizures is associated with chromosomal location 8q.  (See References)

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D) juvenile myoclonic epilepsy is associated with chromosomal location 6p24.

This answer is incorrect.


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

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E) paramyotonia congenita is associated with chromosomal location 17q22-24.

This answer is incorrect.


The statement, "paramyotonia congenita is associated with chromosomal location 17q22-24." is true.
paramyotonia congenita is associated with chromosomal location 17q22-24.  (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
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