neurogenetic syndromes

Topic: Adult

Created on Saturday, September 2 2006 by

Last modified on Saturday, September 2 2006.

 
        A) Simple partial epilepsy with auditory features is associated with chromosomal location 17p13.3.
 
        B) Carnitine palmitoyltransferase deficiency is associated with chromosomal location 1p32-12.
 
        C) Acute intermittent porphyria is associated with chromosomal location 11q23.2.
 
        D) Xeroderma pigmentosa is associated with chromosomal location 9q34.
 
        E) Malignant hyperthermia is associated with chromosomal location 19q13.1.
 

 

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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) simple partial epilepsy with auditory features is associated with chromosomal location 17p13.3.

This answer is correct.

The statement, "simple partial epilepsy with auditory features is associated with chromosomal location 17p13.3." is false.
simple partial epilepsy with auditory features is associated with chromosomal location 10q22.  (See References)

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B) carnitine palmitoyltransferase deficiency is associated with chromosomal location 1p32-12.

This answer is incorrect.

The statement, "carnitine palmitoyltransferase deficiency is associated with chromosomal location 1p32-12." is true.
carnitine palmitoyltransferase deficiency is associated with chromosomal location 1p32-12.  (See References)

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C) acute intermittent porphyria is associated with chromosomal location 11q23.2.

This answer is incorrect.

The statement, "acute intermittent porphyria is associated with chromosomal location 11q23.2." is true.
acute intermittent porphyria is associated with chromosomal location 11q23.2.  (See References)

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D) 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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E) malignant hyperthermia is associated with chromosomal location 19q13.1.

This answer is incorrect.

The statement, "malignant hyperthermia is associated with chromosomal location 19q13.1." is true.
malignant hyperthermia is associated with chromosomal location 19q13.1.  (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