neurogenetic syndromes

Topic: Adult

Created on Saturday, September 2 2006 by

Last modified on Saturday, September 2 2006.

 
        A) Argininosuccinicaciduria is associated with chromosomal location 7pter-q22.
 
        B) Myopathy due to phosphoglycerate mutase deficiency is associated with chromosomal location 17p11.2.
 
        C) Tuberous sclerosis is associated with chromosomal location 11q14-23.
 
        D) Maple syrup urine disease is associated with chromosomal location 6p22-p21.
 
        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) argininosuccinicaciduria is associated with chromosomal location 7pter-q22.

This answer is incorrect.

The statement, "argininosuccinicaciduria is associated with chromosomal location 7pter-q22." is true.
argininosuccinicaciduria is associated with chromosomal location 7pter-q22.  (See References)

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B) myopathy due to phosphoglycerate mutase deficiency is associated with chromosomal location 17p11.2.

This answer is correct.

The statement, "myopathy due to phosphoglycerate mutase deficiency is associated with chromosomal location 17p11.2." is false.
myopathy due to phosphoglycerate mutase deficiency is associated with chromosomal location 7p13-p12.3.  (See References)

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C) tuberous sclerosis is associated with chromosomal location 11q14-23.

This answer is incorrect.

The statement, "tuberous sclerosis is associated with chromosomal location 11q14-23." 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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D) maple syrup urine disease is associated with chromosomal location 6p22-p21.

This answer is incorrect.

The statement, "maple syrup urine disease is associated with chromosomal location 6p22-p21." is true.
maple syrup urine disease is associated with chromosomal location 1p31, and is associated with chromosomal location 6p22-p21.  (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