Facts And Figures Flashcards
1
Q
How many people carry translocation?
A
1:500
2
Q
Haploid autosomal length
A
2% monosomy
4% trisomy
Depends chromosome and gene content
3
Q
Reproductive risk for insertion?
A
32% male
36-50% female
4
Q
Recurrence risk for de novo del/dup?
A
Small - 0.5%
5
Q
What proportion of apparently balanced translocations turned out to br unbalanced?
A
40%
6
Q
Frequency of inversions?
A
0.1-0.7 (slightly higher for pericentric)
Most common Inv(9)(p11q12)
7
Q
Frequency robertsonian carriers
A
1:1000
13;14 most common - 75%
8
Q
Risk abn child for robertsonian carriers
A
10-15% for females
1% males
Also risk UPD
