Ataxia-Telangiectasia 01

Topic: Adult

Created on Saturday, February 17 2007 by jdmiles

Last modified on Saturday, February 17 2007.

 
        A) X
 
        B) Y
 
        C) 14
 
        D) 11
 
        E) 21
 

 

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This question was created on February 17, 2007 by jdmiles.
This question was last modified on February 17, 2007.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS

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A) X

This answer is incorrect.

This patient's history and eye findings are diagnostic for ataxia-telangiectasia. This is associated with a defect of the ATM gene, located on chromosome 11. The specific locus is 11q22-23.  (See References)

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B) Y

This answer is incorrect.

This patient's history and eye findings are diagnostic for ataxia-telangiectasia. This is associated with a defect of the ATM gene, located on chromosome 11. The specific locus is 11q22-23.  (See References)

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C) 14

This answer is incorrect.

This patient's history and eye findings are diagnostic for ataxia-telangiectasia. This is associated with a defect of the ATM gene, located on chromosome 11. The specific locus is 11q22-23.  (See References)

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D) 11

This answer is correct.

This patient's history and eye findings are diagnostic for ataxia-telangiectasia. This is associated with a defect of the ATM gene, located on chromosome 11. The specific locus is 11q22-23.  (See References)

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E) 21

This answer is incorrect.

This patient's history and eye findings are diagnostic for ataxia-telangiectasia. This is associated with a defect of the ATM gene, located on chromosome 11. The specific locus is 11q22-23.  (See References)

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References:

1. Santos, C.C., Miller, V.S., and Roach, E.S. (2004). Neurocutaneous syndromes. In Bradley, W.G., Daroff, R.B., Fenichel, G.M., and Jankovic, J. (Eds.). Neurology in Clinical Practice, 4th Edition. Butterworth Heinemann, Philadelphia. Pp. 1867-1900.
2. NINDS Ataxia Telangiectasia Information Page, NINDS. http://www.ninds.nih.gov/disorders/a_t/a-t.htm
3. Victor, M., and Ropper, A.H. (2001). Adams and Victor's Principles of Neurology, 7th Edition. McGraw-Hill, New York. Pp. 1011-1012.

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adult
Ataxia-Telangiectasia 01
Question ID: 02170702
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 02/17/2007
Modified: 02/17/2007
Estimated Permutations: 0