genetics Flashcards
1
Q
what is the aim for medical genetics?
A
understand the genetics of inherited disease to work towards a cure and improved risk diagnosis
2
Q
what is the process involved with clinical genetics diagnosing?
A
- clinical features & family history
- diagnosis
- request test
> confirm diagnosis and manage treatment
3
Q
pedigree symbols…
A
diagonal line = dead
shaded = affected
cherries with band = identical twins
4
Q
what is autosomal mode of inheritance?
A
passing an affected gene from parent to child
5
Q
what is X- linked recessive?
A
Features:
Two males related through unaffected female
Only males affected
Mode of inheritance:
X-linked recessive (the female has an additional unaffected X chromosome which ‘protects’ her)
