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  #1  
Old 10-03-2011
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Question Genetİcs

A 35-year-old retarded man with a strong history of mental retardation among male relatives undergoes genetic testing. His lymphocytes are cultured in a medium containing methotrexate and 4% of the metaphase chromosomes in the lymphocytes show a breakpoint at q27.3 on the X chromosome. This man is at increased risk for which of the following cardiovascular disorders?
A. Aortic stenosis
B. Atrial septal defect
C. Mitral valve prolapse
D. Tricuspid atresia
E. Ventricular septal defect
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  #2  
Old 10-03-2011
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I go for C. This might be a case of "Fragile X Syndrome"
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  #3  
Old 10-03-2011
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mental retardation,chromosomal breakpoint

Fragile X syndrome.

C. Mitral valve prolapse
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  #4  
Old 10-06-2011
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Plz post the answer
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  #5  
Old 10-06-2011
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The correct answer is C. The disease is Fragile X Syndrome, which is a familial form of mental retardation that is roughly as common as Down's syndrome. The phenotype has a variable expression, but can include large head circumference at birth, perinatal complications (premature birth, asphyxia, seizures), and possibly increased incidence of sudden infant death syndrome. Later, mental retardation, particularly involving language, and symptoms suggestive of attention deficit disorder and/or autism may appear. Features suggestive of connective tissue disorder (lax skin and joints, flat feet, large ears) are common. After puberty, there may be a long narrow face with prominent jaw and nasal bridge. Macro-orchidism is also common after puberty. Mitral valve prolapse and aortic root dilatation, which may appear in late adolescence or adulthood, are among the most serious complications of this disorder.
Aortic regurgitation related to aortic root dilatation, not stenosis (choice A), can be a problem in this population.
Common congenital cardiac malformations such as atrial septal defect (choice B) or ventricular septal defect (choice E) are not features of Fragile X syndrome, but can be seen with Down's syndrome.
Tricuspid atresia (choice D) is a serious congenital cardiac malformation limiting flow into the right ventricle, but it is not part of Fragile X syndrome.
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Old 10-07-2011
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C. Mitral valve prolapse
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