Week 3 - Mendelian Genetics

Question 1

What is variable penetrance?

Answer 1

• variable: range of signs/ symptoms occurring due to genetic background and environment
• penetrance: proportion of individuals with same mutation who show the signs/ symptoms associated with the disorder

Question 2

What are the symbols in a pedigree for deaths during pregnancy?

Answer 2

stillbirth
- gestation
- after 20 weeks of pregnancy
- gendered symbol
- with deceased line
- mention SB and week number
spontaneous abortion
- miscarriage
- triangle
termination of pregnancy
- actively aborted
- triangle
- with deceased line

Question 3

Which professionals provide genetic counselling?

Answer 3

• clinical geneticists
• genetic counsellors

Question 4

What are the guiding principles for ethical issues?

Answer 4

• beneficence: act for benefit to others, best interest of patient
• non-maleficence: do no harm
• autonomy: right of individual to control their destiny, freedom to make an informed decision
• justice: fair distribution of health resources