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Kaplan Qbank USMLE



Author5 Posts
  #1

A one year old male baby is suffering from a serious metabolic disorder. Lab reports show very diminished levels of enzyme homogentisate 1,2- deoxygenase. Doctors attending him strongly suspect an underlying molecular defect and dispatch 0.5ml of his venous blood to Gensoft, a reputed genetic counseling center in the city. Susan, the lab director of Gensoft, lists two options for analyzing the blood sample: 1, to simultaneously inspect all the chromosomes using batttery of molecular probes, or 2, to look for specific defects based on the background literature. AFter carefully weighin all the pros and cons, she chooses to investigate a specific region of a specifc chromosome. Assuming that you were asked to investigate this case, which chromosomal regions would your prefer to examine first?

A Short arm of chromosome 1
B Long arm of chromosome 2
C Long arm of chromosome 3
D Centrometric region of chromosome 4
E Telometric region of chromosome 5

  #2

this sound like Akaptonuria associated with chromosome 3, so the answer is C


  #3

nod

  #4

PatriciaLim wrote:
A one year old male baby is suffering from a serious metabolic disorder. Lab reports show very diminished levels of enzyme homogentisate 1,2- deoxygenase. Doctors attending him strongly suspect an underlying molecular defect and dispatch 0.5ml of his venous blood to Gensoft, a reputed genetic counseling center in the city. Susan, the lab director of Gensoft, lists two options for analyzing the blood sample: 1, to simultaneously inspect all the chromosomes using batttery of molecular probes, or 2, to look for specific defects based on the background literature. AFter carefully weighin all the pros and cons, she chooses to investigate a specific region of a specifc chromosome. Assuming that you were asked to investigate this case, which chromosomal regions would your prefer to examine first?

A Short arm of chromosome 1
B Long arm of chromosome 2
C Long arm of chromosome 3
D Centrometric region of chromosome 4
E Telometric region of chromosome 5



  #5

chromosome 3







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