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Chapter: 14 / Q: 20
A 7 year old presented with chronic cough and is also found to be jaundiced on exam. What is the most likely diagnosis?
Chapter: 14 / Q: 21
Mother having 2 children with CF. What is the risk of getting another baby?
Chapter: 14 / Q: 22
Healthy parents have 2 children, a child with cystic fibrosis and a healthy child. They want to have another child. What are the chances of that child being a carrier?
Chapter: 14 / Q: 23
The biological parents of a child with CF (cystic fibrosis) come to you to know about the chances of their future children with the same disease. What would you say to them?
Chapter: 14 / Q: 24
A young anxious mother of a 10 month boy comes to you and requests a test for CF (cystic fibrosis). What is the most appropriate investigation?
Chapter: 14 / Q: 25
A 26 year old man with history of hereditary hemorrhagic telengectasia is planning to start a family. What is the mode of inheritance?
Chapter: 14 / Q: 26
A 6 year old boy presents with jaundice following treatment with sulphathiazole. Investigations suggest that the jaundice is due to haemolysis caused by G6DP deficiency. Which is true regarding etiology of G6DP deficiency?
Chapter: 14 / Q: 27
A 6 year old boy has been noticed to have problems with co-ordinating his voluntary movements over the last two years. He has a waddling gait and needs to support himself on his hands when rising from the floor. He has larger calves than other boys but he runs more slowly. Which is the likely d
Chapter: 14 / Q: 28
A 59 year old man has shown a change in mood and personality over a 9 month period. He has subsequently developed difficulty with memory and concentration, and then progressive fidgety movements of his limbs and facial musculature. By the time of medical assessment he has franc choreiform moveme
Chapter: 14 / Q: 29
A middle aged woman has severe collapse of the right femoral head requiring replacement. The removed femoral head is sent for pathology and is found to contain enlarged fat cells. The pathologist explains that this is the likely cause of the patient's femoral head collapse. A likely aetiology i
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