Inversions

Question 1

Duplication

Answer 1

An additional copy of a segment is present

Question 2

Insertion

Answer 2

A segment from one chromosome is intercalated into the same/another breakpoint (3 break points)

Question 3

Inversion

Answer 3

Occurs when a single chromosome undergoes breakage and rearrangement within itself (2 breaks)

Question 4

Pericentric inversion

Answer 4

Break in the short and long arm of the chromosome

Involves the centromere

Question 5

Paracentric inversion

Answer 5

Breaks in either the short arm or the long arm

No centromere involved

Question 6

4 possible gametes from inversion heterozygote

Answer 6

1. Normal homolog
2. Inverted homolog
3. Dup of part of short arm and del of part of long arm
4. Dup of part of long arm and del of part of short arm

Question 7

Stature genes located on

Answer 7

Xp

Question 8

Ovarian genes located on

Answer 8

Xq

Question 9

Recurrence risk for pericentric inversion (with rec child)

Answer 9

5-15%

Question 10

Recurrence risk for pericentric inversion (no family history)

Answer 10

1%

Question 11

Recurrence risk for paracentric inversion

Answer 11

0.1-0.5%

Question 12

Deletion

Answer 12

A loss of any part of a chromosome