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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) Benign neonatal seizures is associated with chromosomal location 8q.
 
        B) Recessive limb girdle muscular dystrophy type 2A is associated with chromosomal location 15q15-?22.
 
        C) Dutch hereditary cerebral hemorrhage is associated with chromosomal location 21q21.2.
 
        D) Episodic ataxia with nystagmus is associated with chromosomal location 19p13.
 
        E) Carnitine palmitoyltransferase deficiency is associated with chromosomal location 6q2.
 

 


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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) benign neonatal seizures is associated with chromosomal location 8q.

This answer is incorrect.


The statement, "benign neonatal seizures is associated with chromosomal location 8q." is true.
benign neonatal seizures is associated with chromosomal location 8q.  (See References)

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B) 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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C) Dutch hereditary cerebral hemorrhage is associated with chromosomal location 21q21.2.

This answer is incorrect.


The statement, "Dutch hereditary cerebral hemorrhage is associated with chromosomal location 21q21.2." is true.
Dutch hereditary cerebral hemorrhage is associated with chromosomal location 21q21.2.  (See References)

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D) episodic ataxia with nystagmus is associated with chromosomal location 19p13.

This answer is incorrect.


The statement, "episodic ataxia with nystagmus is associated with chromosomal location 19p13." is true.
episodic ataxia with nystagmus is associated with chromosomal location 19p13.  (See References)

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E) carnitine palmitoyltransferase deficiency is associated with chromosomal location 6q2.

This answer is correct.


The statement, "carnitine palmitoyltransferase deficiency is associated with chromosomal location 6q2." is false.
carnitine palmitoyltransferase deficiency is associated with chromosomal location 1p32-12.  (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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