genetics

Question 1

• beta-glucoceribrosidase deficiency (disease and inheritance pattern)

Answer 1

• gaucher

- autosomal recessive

Question 2

wilsons disease (chromosome, defect, signs/symptoms, lab)

Answer 2

• 13
• defect in copper metabolism leads to deposition
• kayser-fleischer rings, rigidity, resting tremor, bradykinesia
• low ceruloplasmin levels

Question 3

turners syndrome is associated with what vascular abnormality?

Answer 3

-coarctation of the aorta