Genetic Pearls Flashcards
1
Q
Name 4 autosomal recessive conditions
A
DD
Friedereich’s ataxia
OI (type II and III)
McKusic metaphyseal dysplasia
2
Q
Name 2 X-linked recessive conditions
A
- SED tarda
- CMT (20%) connexin gene
3
Q
Name 12 autosomal dominant conditions
A
- Achondroplasa/pseudoachon
- CMT (80%), SED congenita
- Jansen and Schmid’s metaphyseal chondrodysp
- MED I/II
- OI (I and IV) and Kniest
- Apert and cleidocranial
4
Q
Myxoid chondrosarcoma translocation
A
(9:22)
EWS-CHN fusion protein
5
Q
Ewing’s translocation
A
(11:22)
EWS-FLI fusion protein
6
Q
Clear cell csarcoma translocation
A
(12:22)
EWS-ATF1 fusion protein
nests on histo
7
Q
Myxoid liposarcoma translocation
A
(12:16)
TLS-CHOP
8
Q
Synovial sarcoma translocation
A
(X:18)
SYT-SSX1,2, or 4
9
Q
Rhabdomyosarcoma translocation
A
(2:13)
Pax3-FKHR
10
Q
Name 2 tumor suppressor genes
A
Rb1 and p53
11
Q
colorectal carcinoma antigen
A
CEA
12
Q
pancreatic cancer
A
CA 19-9
13
Q
ovarian cancer
A
CA 125
14
Q
breast cancer antigen
A
CA 15-3
15
Q
hepatocellular carcinomas
A
AFP (seen in many)
