neurogenetic syndromes

Topic: Adult

Created on Saturday, September 2 2006 by

Last modified on Saturday, September 2 2006.

 
        A) Schwartz-Jampel syndrome is associated with chromosomal location 1p34-p36.1.
 
        B) Infantile onset ataxia is associated with chromosomal location 10q23-24.
 
        C) Malignant hyperthermia is associated with chromosomal location 19q13.1.
 
        D) Charcot-Marie-Tooth (CMT-2A) is associated with chromosomal location 20q13.2-q13.3.
 
        E) Familial amyloid neuropathy is associated with chromosomal location 18q11.2-12.1.
 

 

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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) Schwartz-Jampel syndrome is associated with chromosomal location 1p34-p36.1.

This answer is incorrect.

The statement, "Schwartz-Jampel syndrome is associated with chromosomal location 1p34-p36.1." is true.
Schwartz-Jampel syndrome is associated with chromosomal location 1p34-p36.1.  (See References)

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B) infantile onset ataxia is associated with chromosomal location 10q23-24.

This answer is incorrect.

The statement, "infantile onset ataxia is associated with chromosomal location 10q23-24." is true.
infantile onset ataxia is associated with chromosomal location 10q23-24.  (See References)

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C) 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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D) Charcot-Marie-Tooth (CMT-2A) is associated with chromosomal location 20q13.2-q13.3.

This answer is correct.

The statement, "Charcot-Marie-Tooth (CMT-2A) is associated with chromosomal location 20q13.2-q13.3." is false.
Charcot-Marie-Tooth (CMT-2A) is associated with chromosomal location 1p35-36.  (See References)

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E) familial amyloid neuropathy is associated with chromosomal location 18q11.2-12.1.

This answer is incorrect.

The statement, "familial amyloid neuropathy is associated with chromosomal location 18q11.2-12.1." is true.
familial amyloid neuropathy is associated with chromosomal location 18q11.2-12.1.  (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