13.1 Flashcards
1
Q
Aneuploidy
A
Missing or extra chromosomes in a cell
2
Q
Triploidy
A
Three complete sets of chromosomes (in humans: 69)
3
Q
Name of trisomy 18
A
Edward’s syndrome
4
Q
Name of trisomy 21
A
Down Syndrome
5
Q
Name of trisomy 13
A
Patau syndrome (BDubs)
6
Q
Why do autosomal trisomies have such severe effects?
A
- Changes the “balance” between genes
- For some genes, having three copies is disastrous for development
7
Q
Why is X aneuploidy considered mild?
A
X inactivation occurs in females anyway
8
Q
Why is Y aneuploidy considered mild?
A
There are very few genes on the Y chromosome, so the effects of aneuploidy are less than an autosomal aneuploidy
