Translocations And Mutations Flashcards
1
Q
Acute promyelocytic leukemia (APML)
A
T(15,17)
2
Q
Chronic myeloid leukemia
A
Philadelphia chromosome t(9,22). Protein is BCR ABL
3
Q
AML
A
T(8,21) and EPO Protein
4
Q
Burkitts
A
T(18,14). C-myc
5
Q
Mantle cell lymphoma
A
T(11,14) cyclin d1
6
Q
MALToma
A
T(11,18)
7
Q
Follicular lymphoma
A
T(14,18) bcl2
8
Q
Anaplastic large cell lymphoma
A
T (2,5)
9
Q
Ewing’s sarcoma
A
T (11,22)
10
Q
Mutation F508
A
Cystic fibrosis
11
Q
Mutation ATP7B on chromosome 13
A
Wilsons: hepatolenticular degeneration
12
Q
HFE on chromosome 6
A
Hereditary haemochromatosis
13
Q
45 XO
A
Turners
14
Q
47xxy
A
Klinefelters
15
Q
Trisomy 21
A
Downs
16
Q
Trisomy 18
A
Edwards
17
Q
Trisomy 13
A
Pataus
18
Q
Monosomy 5p
A
Cri du chat
19
Q
Deletion 22q11
A
Di George
20
Q
Deletion 7q11
A
Williams
21
Q
Paternal 15q11-13
A
Prader willi
22
Q
Maternal 15q11-13
A
Angelmans
23
Q
CGG repeat on chromosome X
A
Fragile X
24
Q
CAG Repeat on chromosome 4
A
Huntingtons
