neurogenetic syndromes

Topic: Adult

Created on Saturday, September 2 2006 by

Last modified on Saturday, September 2 2006.

 
        A) Hurler and Hurler-Scheie syndrome is associated with chromosomal location 9q33.
 
        B) Xeroderma pigmentosa is associated with chromosomal location 9q34.
 
        C) SCA 13 is associated with chromosomal location 9q13.
 
        D) Nocturnal frontal lobe epilepsy is associated with chromosomal location 20q13.2-q13.3.
 
        E) Bilateral acoustic neurofibromatosis is associated with chromosomal location 22q11-13.1.
 

 

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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) Hurler and Hurler-Scheie syndrome is associated with chromosomal location 9q33.

This answer is correct.

The statement, "Hurler and Hurler-Scheie syndrome is associated with chromosomal location 9q33." is false.
Hurler and Hurler-Scheie syndrome is associated with chromosomal location 4p16.3.  (See References)

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B) xeroderma pigmentosa is associated with chromosomal location 9q34.

This answer is incorrect.

The statement, "xeroderma pigmentosa is associated with chromosomal location 9q34." 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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C) SCA 13 is associated with chromosomal location 9q13.

This answer is incorrect.

The statement, "SCA 13 is associated with chromosomal location 9q13." is true.
SCA 13 is associated with chromosomal location 9q13.  (See References)

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D) nocturnal frontal lobe epilepsy is associated with chromosomal location 20q13.2-q13.3.

This answer is incorrect.

The statement, "nocturnal frontal lobe epilepsy is associated with chromosomal location 20q13.2-q13.3." is true.
nocturnal frontal lobe epilepsy is associated with chromosomal location 20q13.2-q13.3.  (See References)

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E) bilateral acoustic neurofibromatosis is associated with chromosomal location 22q11-13.1.

This answer is incorrect.

The statement, "bilateral acoustic neurofibromatosis is associated with chromosomal location 22q11-13.1." is true.
bilateral acoustic neurofibromatosis is associated with chromosomal location 22q11-13.1.  (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