Family Histories and probabilities Flashcards
1
Q
What are some of the features of Beckwith-Wiedermann syndrome?
A
acclerated growth
macroglossia
umbilical hernia
increased cancer risk
neonatal hypoglycaemia
2
Q
What mode of inheritance does cystic fibrosis have?
A
autosomal recessive
3
Q
Carol and James present to you at 10 weeks gestation. Carol’s brother has cystic fibrosis. What is the risk of Carol being a carrier?
A
2/3
4
Q
Give examples of X-Linked recessive conditions
A
duchenne muscular dystrophy
haemophilia A
red-green colour blindness
5
Q
A
