neurogenetic syndromes

Topic: Adult

Created on Saturday, September 2 2006 by

Last modified on Saturday, September 2 2006.

 
        A) Early onset familial Alzheimer's disease is associated with chromosomal location 21q11-22.
 
        B) Myopathy due to phosphoglycerate mutase deficiency is associated with chromosomal location 7p13-p12.3.
 
        C) Congenital alpha tocopherol transport protein defect is associated with chromosomal location 8q13.
 
        D) Zellweger's syndrome type I is associated with chromosomal location 7q11.23.
 
        E) Hyperexplexia is associated with chromosomal location 1p35-36.
 

 

	= Go back to the top of the page.
	= Reload a different version of this question ().
	= Load a random question from the database.
	= Use this question as a template to create a totally NEW question.
	= Enter detailed rating for this question!
	= How users like you have rated this question.

This question was created on September 02, 2006 by .
This question was last modified on September 02, 2006.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS

---

A) early onset familial Alzheimer's disease is associated with chromosomal location 21q11-22.

This answer is incorrect.

The statement, "early onset familial Alzheimer's disease is associated with chromosomal location 21q11-22." is true.
early onset familial Alzheimer's disease is associated with chromosomal location 1q31-42, is associated with chromosomal location 14q24.3, and is associated with chromosomal location 21q11-22.  (See References)

Please log in if you want to rate questions.

 

 

 

 

 

 

 

 

 

---

B) myopathy due to phosphoglycerate mutase deficiency is associated with chromosomal location 7p13-p12.3.

This answer is incorrect.

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

Please log in if you want to rate questions.

 

 

 

 

 

 

 

 

 

---

C) congenital alpha tocopherol transport protein defect is associated with chromosomal location 8q13.

This answer is incorrect.

The statement, "congenital alpha tocopherol transport protein defect is associated with chromosomal location 8q13." is true.
congenital alpha tocopherol transport protein defect is associated with chromosomal location 8q13.  (See References)

Please log in if you want to rate questions.

 

 

 

 

 

 

 

 

 

---

D) Zellweger's syndrome type I is associated with chromosomal location 7q11.23.

This answer is incorrect.

The statement, "Zellweger's syndrome type I is associated with chromosomal location 7q11.23." is true.
Zellweger's syndrome type I is associated with chromosomal location 7q11.23.  (See References)

Please log in if you want to rate questions.

 

 

 

 

 

 

 

 

 

---

E) hyperexplexia is associated with chromosomal location 1p35-36.

This answer is correct.

The statement, "hyperexplexia is associated with chromosomal location 1p35-36." is false.
hyperexplexia is associated with chromosomal location 5q.  (See References)

Please log in if you want to rate questions.

 

 

 

 

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.

Please log in if you want to rate questions.

 

FrontalCortex.com -- Neurology Review Questions -- Neurology Boards -- Board Review -- Residency Inservice Training Exam -- RITE Exam Review
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