A patient with cognitive and movement complaints 01

Topic: Adult

Created on Tuesday, January 1 2008 by jdmiles

Last modified on Tuesday, January 1 2008.

 
        A) This disorder is associated with a defect on chromosome 2
 
        B) This disorder involves an expanding GTC trinucleotide repeat
 
        C) This disorder is associated with a defect on chromosome 10
 
        D) This disorder involves an expanding CTG trinucleotide repeat
 
        E) This disorder has an autosomal dominant inheritance pattern.
 

 

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This question was created on January 01, 2008 by jdmiles.
This question was last modified on January 01, 2008.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS

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A) This disorder is associated with a defect on chromosome 2

This answer is incorrect.

This patient's history, family history, exam findings, and axillary studies are strongly suggestive of Huntington disease (HD). HD is an autosomal dominant disorder, involving an expanding CAG trinucleotide repeat on chromosome 4.   (See References)

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B) This disorder involves an expanding GTC trinucleotide repeat

This answer is incorrect.

This patient's history, family history, exam findings, and axillary studies are strongly suggestive of Huntington disease (HD). HD is an autosomal dominant disorder, involving an expanding CAG trinucleotide repeat on chromosome 4.   (See References)

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C) This disorder is associated with a defect on chromosome 10

This answer is incorrect.

This patient's history, family history, exam findings, and axillary studies are strongly suggestive of Huntington disease (HD). HD is an autosomal dominant disorder, involving an expanding CAG trinucleotide repeat on chromosome 4.   (See References)

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---

D) This disorder involves an expanding CTG trinucleotide repeat

This answer is incorrect.

This patient's history, family history, exam findings, and axillary studies are strongly suggestive of Huntington disease (HD). HD is an autosomal dominant disorder, involving an expanding CAG trinucleotide repeat on chromosome 4.   (See References)

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E) This disorder has an autosomal dominant inheritance pattern.

This answer is correct.

This patient's history, family history, exam findings, and axillary studies are strongly suggestive of Huntington disease (HD). HD is an autosomal dominant disorder, involving an expanding CAG trinucleotide repeat on chromosome 4.   (See References)

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References:

1. Walker, F.O. (2007). "Huntington's Disease." Semin Neurol, 27(2) 143-50. (PMID:17390259)
2. Walker, F.O. (2007). "Huntington's disease." Lancet, 369(9557) 218-28. (PMID:17240289)
3. Zaidat, O.O., and Lerner, A.J. (2002). The Little Black Book of Neurology, 4th Edition. Mosby, St. Louis (ISBN:0323014151)	Advertising:
4. Bertelson, J.A., and Price, B.H. (2004). Depression and psychosis in neurological practice. In Bradley, W.G., Daroff, R.B., Fenichel, G.M., and Jankovic, J. (Eds.). Neurology in Clinical Practice, Fourth Edition. Butterworth Heinemann, Philadelphia, pp. 103-116 (ISBN:0750674695).	Advertising:

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adult
A patient with cognitive and movement complaints 01
Question ID: 010108110
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 01/01/2008
Modified: 01/01/2008
Estimated Permutations: 45360