17. Genetics counselling demo Flashcards
1
Q
what are the steps of the process of genetic counselling
A
1) comprehend the medical facts
2) appreciate the way hereditary factors
contribute to the disorder, and the risk of recurrence in specific relatives
3) understand the option for dealing with the risk of recurrence
4) choose the course of action that seems appropriate to them
5) make the best possible adjustments to the disorder in an affected member and/or to the risk of recurrence of that disorder
2
Q
Aetiology (cause) of down-syndrome
A
- meiotic non-disjunction
- mosaicism
- parental translocation
3
Q
Robertsonian chromosome translocation
A
- when two acrocentric chromosome fuse to form a whole chromosome
- usually happens with chromosome 13,14,15,21,22
- not all Robertsonian translocations cause health problems, they are usually balanced
4
Q
results of an unbalanaced Robertsonian chromosome translocation
A
- most lost as early as 1st trimester miscarriages
