14. Investigating a genetic disorder in childhood Flashcards
1
Q
What is the role of a clinical geneticist?
A
Diagnosis of genetic disorders
Investigation and genetic risk assessment
Appropriate follow-up support to patient and extended family
Liaison with genetic laboratories
Education and training
Research
2
Q
What are the different types of genetic conditions that can occur?
A
Chromosomal abnormalities
Single gene disorders
Cancer
Factor V leiden - about 1 in 5 people carry this
