neurogenetic syndromes

Topic: Adult

Created on Saturday, September 2 2006 by

Last modified on Saturday, September 2 2006.

 
        A) Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is associated with chromosomal location 19q12.
 
        B) Hyperexplexia is associated with chromosomal location 5q.
 
        C) Juvenile myoclonic epilepsy is associated with chromosomal location 16q24.
 
        D) Dominant ataxia with retinal dystrophy is associated with chromosomal location 3p12-p21.1.
 
        E) Xeroderma pigmentosa is associated with chromosomal location 2q21.
 

 

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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) cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is associated with chromosomal location 19q12.

This answer is incorrect.

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

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B) hyperexplexia is associated with chromosomal location 5q.

This answer is incorrect.

The statement, "hyperexplexia is associated with chromosomal location 5q." is true.
hyperexplexia is associated with chromosomal location 5q.  (See References)

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C) juvenile myoclonic epilepsy is associated with chromosomal location 16q24.

This answer is correct.

The statement, "juvenile myoclonic epilepsy is associated with chromosomal location 16q24." is false.
juvenile myoclonic epilepsy is associated with chromosomal location 6p24.  (See References)

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D) dominant ataxia with retinal dystrophy is associated with chromosomal location 3p12-p21.1.

This answer is incorrect.

The statement, "dominant ataxia with retinal dystrophy is associated with chromosomal location 3p12-p21.1." is true.
dominant ataxia with retinal dystrophy is associated with chromosomal location 3p12-p21.1.  (See References)

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E) xeroderma pigmentosa is associated with chromosomal location 2q21.

This answer is incorrect.

The statement, "xeroderma pigmentosa is associated with chromosomal location 2q21." is true.
xeroderma pigmentosa is associated with chromosomal location 2q21, is associated with chromosomal location 3p25, and is associated with chromosomal location 9q34.  (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