neurogenetic syndromes

Topic: Adult

Created on Saturday, September 2 2006 by

Last modified on Saturday, September 2 2006.

 
        A) Usher syndrome type 1B is associated with chromosomal location 11q13.5.
 
        B) Tuberous sclerosis is associated with chromosomal location 16p13.3.
 
        C) Epilepsy with febrile seizures plus is associated with chromosomal location 19q13.
 
        D) Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is associated with chromosomal location 9q33.
 
        E) McArdle's disease is associated with chromosomal location 11q13.
 

 

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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) Usher syndrome type 1B is associated with chromosomal location 11q13.5.

This answer is incorrect.

The statement, "Usher syndrome type 1B is associated with chromosomal location 11q13.5." is true.
Usher syndrome type 1B is associated with chromosomal location 11q13.5.  (See References)

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B) tuberous sclerosis is associated with chromosomal location 16p13.3.

This answer is incorrect.

The statement, "tuberous sclerosis is associated with chromosomal location 16p13.3." 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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C) epilepsy with febrile seizures plus is associated with chromosomal location 19q13.

This answer is incorrect.

The statement, "epilepsy with febrile seizures plus is associated with chromosomal location 19q13." is true.
epilepsy with febrile seizures plus is associated with chromosomal location 19q13.  (See References)

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D) cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is associated with chromosomal location 9q33.

This answer is correct.

The statement, "cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is associated with chromosomal location 9q33." is false.
cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is associated with chromosomal location 19q12.  (See References)

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E) McArdle's disease is associated with chromosomal location 11q13.

This answer is incorrect.

The statement, "McArdle's disease is associated with chromosomal location 11q13." is true.
McArdle's disease is associated with chromosomal location 11q13.  (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