Genetics Flashcards
1
Q
Klinefelters syndrome genetic abnormality
A
47XXY
2
Q
Klinefelters affects males and females. True or false?
A
False
- affects males only
3
Q
What is klinefelters
A
Congenital cause for male primary hypogonadism
4
Q
Turners syndrome genetics
A
46 XO
- affects females
5
Q
Di George syndrome
A
22Q deletion
6
Q
First line investigation for di George syndrome
A
aCGH as there is a chromosome imbalance
