Genetic dilemmas Flashcards
1
Q
What is the role of a clinical geneticist?
A
- Identify patients with, or at risk of a genetic condition
- Communicate genetic information in an understandable, non-directive manner
- Offer recommendations (screening)
- Discuss implications of gene testing
- Options (treatment)
2
Q
Type of inheritance in Huntingtons?
A
Autosomal dominant
3
Q
If a daughter tests positive for Huntingtons disease who should be tested next?
A
The father will be a obligate carrier
4
Q
Prenatal diagnosis?
A
- Chorionic villus sampling >11 weeks
- 12 week viability scans (USS) - Nuchal folds
- Amniocentesis >15 weeks
5
Q
Which mutations are associated with developing breast and ovarian cancer?
A
BRCA1 and BRCA2
6
Q
What tests can be used to screen fro breast cancer?
A
- Genetic screening for mutations in BRCA1 and BRCA2
- Mammography
7
Q
If an individual is BRCA1 or BRCA2 positive what treatment may they consider?
A
Prophylactic surgery to remove their breast or ovaries
8
Q
What are the risks involved in antenatal testing?
A
- Increased risk of miscarriage
- 50% risk of terminating a healthy fetus
9
Q
If a father is positive for Huntington’s what is the chance of the child being positive?
A
50%
10
Q
What chromosome is affected in Huntingtons?
A
Chromosome 4
