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Old 08-15-2011
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Default chorea

A 32-year-old male is brought in by his daughter for several months of frequent, irregular, and sudden jerking movements of his limbs and trunk. The daughter tells you that the patient has become more forgetful and inattentive over the past year. The patientís father and paternal aunt both had similar symptoms that started at age 45 and 48 respectively. Which could account for this patientís presentation?
A. CAG repeats on chromosome 4
B. Autosomal trisomy
C. Deletion of the Huntingtin gene
D. Cerebellar hemangioblastoma
E. GAA repeats on chromosome 9
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Old 08-15-2011
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A) CAG repeats on Chromosome 4 .. huntingtons dx
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Old 08-15-2011
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A. CAG repeats on chromosome 4
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  #4  
Old 08-16-2011
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A CAG repeats
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Old 08-16-2011
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Quote:
Originally Posted by ricko335 View Post
A 32-year-old male is brought in by his daughter for several months of frequent, irregular, and sudden jerking movements of his limbs and trunk. The daughter tells you that the patient has become more forgetful and inattentive over the past year. The patientís father and paternal aunt both had similar symptoms that started at age 45 and 48 respectively. Which could account for this patientís presentation?
A. CAG repeats on chromosome 4
B. Autosomal trisomy
C. Deletion of the Huntingtin gene
D. Cerebellar hemangioblastoma
E. GAA repeats on chromosome 9
i think its A cag repeats in huntington disease
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Old 08-16-2011
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huntington,.. ans is A
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Old 08-16-2011
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Correct Answer

If u c house tv series 13 has dis so i remember 13 with repeats in her chromosome 4

The correct answer is A.
This patient has Huntingtonís disease: The jerky movements described are chorea-like. The family history and the patientís earlier onset of the paternal symptoms suggest genetic anticipation. Of the answer choices, only CAG repeats on chromosome 4 can account for these symptoms. Deletion of the Huntingtin gene doesnít cause Huntingtonís disease. GAA repeats on chromosome 9 indicates Friedrichís ataxia, which presents differently and has an autosomal recessive inheritance pattern.
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