1. Which of the following is true regarding the inheritance of autosomal dominant disorders?
2. Which of the following mutations are most commonly associated with autosomal dominant disorders?
3. Which of the following statements is true regarding autosomal recessive disorders?
4. Which of the following is matched correctly?
5. In a disease with mendelian pattern of inheritance, all the girls in a family and their father is affected wheras, mother and all the boys are unaffected. What is the pattern of inheritance?
6. A 14 year old boy visited the pediatrician with complaints of chest pain.The pediatrician observes that the boy has enlarged upper and lower limbs. He suspects marfan syndrome and on further examination finds ectopia lentis and aortic root dilatation. Which of the following statements is true regarding this condition?
7. Ghent criteria is used to diagnose which of the following conditions?
30. Which of the following subtypes of Ehlers danlos syndrome ( EDS) is autosomal recessive.?
9. All of the following mutations are associated with familial hypercholesterolemia except?
10. An infant presented with vomiting, diarrhea and failure to thrive. An ultrasound examination reveals, chalky calcification of the adrenal glands. Which of the following statements is false regarding this condition?