Genetic Conditions

Question 1

What is the mode of inheritance of Von Willebrands disease?

Answer 1

Type 1 and 2 autosomoal dominant
Type 3 autosomal recessive

Question 2

What mode of inheritance is Neurofibromatosis?

Answer 2

Autosomal dominant

Question 3

What are common autosomal recessive conditions?

Answer 3

Sickle cell
Cystic Fibrosis
Tay-Sachs
PKU
Mucopolysaccharidoses
Glycogen storage diseases
Peutz-Jegher Syndrome

Question 4

What is the screening test for downs syndrome?

Answer 4

11-13+6 weeks
- nuchal translucency
- PAPPA and bHCG

14+ weeks
- AFP
- Unconjugated oestriol
- HCG
- Inhibin A

Question 5

What are common Autosomal Dominant Genetic Conditions?

Answer 5

Neurofibromatosis types 1 and 2
Familial hypercholesteraemia
Adult polycystic kidney disease
Hereditary spherocytosis
Marfan Syndrome
Huntingdons
VWF
HNPCC
BRCA 1/2