W31/L5: Genetic imprinting Flashcards
1
Q
What is the only monosomy that can make it to full term?
A
XO
2
Q
What are some common trisomies?
A
13
18
21
XXY
3
Q
How do we write the karyotype of a normal person?
A
46,XX or 46.XY
4
Q
How do we write the karyotype of a female with Down syndrome?
A
47,XX+21
5
Q
What’s the other name for trisomy 18?
A
Edwards syndrome
6
Q
What does monoallelic expression refer to?
A
The idea that come genes must only be expressed from only one copy for normal cell function
7
Q
What two mechanisms do we have to ensure monoallelic gene expression where required?
A
X inactivation
Genomic imprinting
8
Q
What is the evidence that some genes in the Barr bodie that are expressed anyway?
A
Monosomy X (turners syndrome) have abnormalities
9
Q
What are 3 syndromes of imprinting defects?
A
Beckwith-Wiedemann
Prader-Willi
Angelman
