Tonight we kicked off with a tutorial on modes of inheritance. A lot of questions on this are common in the exam and it is another "last minute revision" topic. I hope the EMQ helps with this. Then we discussed how to tackle 4 essays.
Mode of inheritance.
Lead-in.
The following questions relate to the mode of inheritance.
For each question, choose the answer from the option list that best matches. Each option can be used once, more than once or not at all.
List of questions.
1. achondroplasia
2. adreno-genital syndrome
3. androgen insensitivity syndrome
4. Angelman syndrome. Dandy-Walker syndrome
5. Dandy-Walker syndrome
6. Down’s syndrome
7. Duchenne muscular dystrophy
8. Edward’s syndrome
9. Ehlers-Danlos syndrome
10. Fitz-Hugh-Curtis syndrome
11. Fragile X syndrome
12. Glucose-6-phosphate dehydrogenase deficiency X-linked recessive
13. haemophilia A
14. haemophilia B
15. Lynch syndrome (HNPCC). Marfan’s syndrome
16. Marfan’s syndrome
17. Mayer-Rokitansky-Kuster-Hauser syndrome
18. Noonan syndrome.
19. Prader-Willi syndrome
20. Potter’s syndrome
21. Sickle cell disease
22. Tay-Sach’s disease
23. thalassaemia
24. Triple X syndrome
25. Turner’s syndrome
26. Swyer’s syndrome
27. VACTERL
28. von Willebrand’s disease
29. A mother has spina bifida. What is the risk of a child being affected?
30. A mother has had a child with spina bifida, what is the risk of the next child being affected?
31. A mother has had two children with spina bifida. What is the risk of the next child being affected?
32. A mother has grand-mal epilepsy. What is the risk of her child having epilepsy?
33. A mother and her partner both have grand-mal epilepsy. What is the risk of their child having epilepsy?
34. A mother has insulin-dependent diabetes mellitus. What is the risk of a child being affected?
35. A mother and her partner have insulin-dependent diabetes mellitus. What is the risk of a child being affected?
Essays 22 August 2011.
Question 1.
A nulliparous woman attends the antenatal clinic at 36 weeks. She has no health problems and the pregnancy has been normal. The presentation is cephalic and the head is engaged. She states that she wishes Caesarean section. Outline your management.
Question 2.
2. A primigravid woman has a normal delivery of a baby with the facial features of Down’s syndrome. She has recognised that the baby has Down’s syndrome. The paediatricians are all busy in the A&E department due to a crash involving a school bus and you have been asked to see her. Outline your management.
Question 3.
A primigravid woman is admitted with severe abdominal pain at 36 weeks. Outline how you will go about establishing a diagnosis.
Question 4.
A nulliparous woman is admitted to the Early Pregnancy Unit with abdominal pain and bleeding. Her hCG is 2,000 i.u. per litre. An ultrasound scan shows an empty uterus and a left adnexal mass.
1. Discuss the differential diagnosis. 4 marks.
2. Discuss the treatment options. 10 marks.
3. Discuss the advice you will give for when she has recovered. 6 marks.
No comments:
Post a Comment