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4
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EMQ. Mode of
inheritance.
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11
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With regard to
anti-phospholipid syndrome:
1. outline the
clinical manifestations of APS. 4 marks.
2. outline the
implications of APS for pregnancy 4
marks.
3. critically
evaluate how the diagnosis is made. 4
marks.
4. critically
evaluate the management in the woman wishing to be pregnant. 8 marks.
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12
|
A 25-year-old
attends the A&E department at 36 weeks’ gestation complaining of
headache.
1. List the differential diagnosis. 6 marks
2. Justify the history you will obtain. 6 marks
3. Evaluate the management options. 8 marks
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13
|
Critically
evaluate vitamin supplementation in pregnancy.
|
14
|
With regard to
the Clinical Negligence Scheme for Trusts.
1. What it
the CNST?
8 marks
2. Describe the impact of the CNST on obstetric
practice. 12 marks
|
Mode of
inheritance.
Lead-in.
The following questions relate to the mode of inheritance
– some not quite to “mode”, but I am sure you will indulge me!
For each question, write what you think is the mode of
inheritance or appropriate answer. There is no option list.
Comment.
You are expected to know a lot of basic genetics and it
is hard to remember the details. A list to go over in the days before the exam
makes sense. Use this one and add anything else you can think of – and let me
know of your additions so I can add them to this list. Don’t add a load of rare
syndromes – you will just end up confused. But add anything that you know has
featured in the exam.
List of questions.
1.
achondrogenesis.
2.
achondroplasia.
3.
acute fatty liver of pregnancy (AFLP).
4.
adreno-genital syndrome
5.
adult polycystic kidney disease.
6.
androgen insensitivity syndrome.
7.
albinism.
8.
Angelman syndrome.
9.
Apert syndrome.
10.
Becker muscular dystrophy.
11.
Beckwith-Wiedemann syndrome.
12.
BRCA 1.
13.
BRCA2.
14.
Cavanan syndrome.
15.
Charcot-Marie-Tooth disease.
16.
chondrodystrophy.
17.
Christmas disease.
18.
congenital adrenal hyperplasia.
19.
cri-du-chat syndrome.
20.
cystic fibrosis.
21.
Dandy-Walker syndrome.
22.
developmental dysplasia of the hip.
23.
Down’s syndrome.
24.
Duchenne muscular dystrophy
25.
Dwarfism. See isolated growth hormone
deficiency.
26.
Edward’s syndrome.
27.
exomphalos.
28.
Ehlers-Danlos syndrome
29.
Fanconi anaemia
30.
Fitz-Hugh-Curtis syndrome.
31.
Fragile X syndrome.
32.
galactosaemia.
33.
gastroschisis.
34.
glucose-6-phosphatase deficiency. G6PD.
35.
glucose-6-phosphate dehydrogenase deficiency.
G6PDD.
36.
haemochromatosis.
37.
haemosiderosis..
38.
haemophilia A:
39.
haemophilia B:
40.
Hunter syndrome.
41.
Huntington’s disease.
42.
ichthyosis.
43.
isolated growth hormone deficiency.
44.
juvenile polycystic kidney disease.
45.
Kallmann’s syndrome.
46.
Klinefelter’s syndrome.
47.
Lesch Nyhan syndrome.
48.
Lynch syndrome (HNPCC).
49.
Malignant hyperthermia.
50.
Maple syrup urine disease.
51.
Marfan’s syndrome.
52.
Martin-Bell syndrome.
53.
Mayer-Rokitansky-Kuster-Hauser syndrome.
54.
McCune-Albright syndrome.
55.
Meckel-Gruber syndrome.
56.
Medium-chain acyl-CoA dehydrogenase deficiency.
57.
mucopolysaccharidosis
type I.
58.
Myotonic dystrophy.
59.
neurofibromatosis.
60.
Niemann-Pick disease.
61.
Noonan syndrome.
62.
ocular albinism.
63.
osteogenesis imperfecta.
64.
osteoporosis.
65.
Patau’s syndrome.
66.
Perrault syndrome.
67.
phenyketonuria.
68.
polydactyly.
69.
porphyria.
70.
Prader-Willi syndrome.
71.
Potter’s syndrome.
72.
pyruvate kinase deficiency.
73.
sickle cell disease.
74.
spherocytosis.
75.
Syndrome X.
76.
Tay-Sach’s disease.
77.
Thalassaemia.
78.
Thrombophilia.
79.
Triple X syndrome.
80.
Turner’s syndrome.
81.
Swyer’s syndrome.
82.
Uniparental disomy.
83.
VACTERL.
84.
vitamin D resistant rickets
85.
von Willebrand’s disease.
86.
A mother has spina bifida. What is the risk of a
child being affected?
87.
A mother has had a child with spina bifida, what
is the risk of the next child being affected?
88.
A mother has had two children with spina bifida.
What is the risk of the next child being affected?
89.
A mother has grand-mal epilepsy. What is the
risk of her child having epilepsy?
90.
A mother and her partner both have grand-mal
epilepsy. What is the risk of their child having epilepsy?
91.
A mother has insulin-dependent diabetes
mellitus. What is the risk of a child being affected?
92.
A mother has congenital heart disease. What is
the risk of a child being affected?
93.
A mother takes lithium for bi-polar disorder
throughout her pregnancy. What is the risk of the child having congenital heart
disease?
94.
A mother has a nuchal translucency scan at 11
weeks. The result is 6 mm. What is the risk of the fetus having congenital
heart disease?
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