neurogenetic syndromes

Topic: Adult

Created on Saturday, September 2 2006 by

Last modified on Saturday, September 2 2006.

 
        A) Usher syndrome type 3 is associated with chromosomal location 3q.
 
        B) Hereditary sensory neuropathy type 1 is associated with chromosomal location 9q22.1-q22.3.
 
        C) Cerebrotendinous xanthomatosis is associated with chromosomal location 2q33-qter.
 
        D) Nemaline myopathy is associated with chromosomal location 8p11-q21.
 
        E) Dihydrofolate reductase deficiency is associated with chromosomal location 5q11.2-q13.2.
 

 

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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 3 is associated with chromosomal location 3q.

This answer is incorrect.

The statement, "Usher syndrome type 3 is associated with chromosomal location 3q." is true.
Usher syndrome type 3 is associated with chromosomal location 3q.  (See References)

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B) hereditary sensory neuropathy type 1 is associated with chromosomal location 9q22.1-q22.3.

This answer is incorrect.

The statement, "hereditary sensory neuropathy type 1 is associated with chromosomal location 9q22.1-q22.3." is true.
hereditary sensory neuropathy type 1 is associated with chromosomal location 9q22.1-q22.3.  (See References)

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C) cerebrotendinous xanthomatosis is associated with chromosomal location 2q33-qter.

This answer is incorrect.

The statement, "cerebrotendinous xanthomatosis is associated with chromosomal location 2q33-qter." is true.
cerebrotendinous xanthomatosis is associated with chromosomal location 2q33-qter.  (See References)

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D) nemaline myopathy is associated with chromosomal location 8p11-q21.

This answer is correct.

The statement, "nemaline myopathy is associated with chromosomal location 8p11-q21." is false.
nemaline myopathy is associated with chromosomal location 1q21-23.  (See References)

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E) dihydrofolate reductase deficiency is associated with chromosomal location 5q11.2-q13.2.

This answer is incorrect.

The statement, "dihydrofolate reductase deficiency is associated with chromosomal location 5q11.2-q13.2." is true.
dihydrofolate reductase deficiency is associated with chromosomal location 5q11.2-q13.2.  (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