Quick Snappers: Genetic Associations Flashcards
t(12;16)
Myxoid liposarc
Rothmund-Thompson syndrome - name the gene affected and associated tumour
RECQL4 - osteosarcoma
Osteogenesis Imperfecta Gene
COL1A1, COL1A2 (don’t mix up with ehler’s danlos - COL5A1/2)
Duchenne Muscular Dystrophy
Dystrophin Gene
t(12;22)
clear cell sarcoma
Neurofibromatosis
NF1
Spinal Muscular Atrophy
Survival Motor Neuro (SMN) Think: defective survival motor neuron decreases survival: SMA is often fatal
Marfan’s
FBN-1 (fibrillin)
name as many conditions as possible with multiple inheritance patterns (ortho related)
CMT
osteopetrosis
OI
NF
SED
MED type 1 gene
COMP
Retinoblastoma - name the gene affected and associated tumour
RB1 - osteosarcoma
oilier’s disease
PTHR1 - GNAS1 - enchondromas, chondrosarc
cleidocranial dysplasia gene
CBFA-1
Ehlers-Danlos Gene
Classic: COL5A1/2 Don’t mix up with OI: COL1A1 & COL1A2
t(2;13)
alveolar rhabdomyosarc
name as many x-linked dominant conditions as possible (ortho related)
hypophosphatemic rickets
leri-weil dyschondrosteosis
SED gene
COL2A1
mazabraud syndrome - name the gene affected and associated tumour
GNAS1 - IM myxomas and fibrous dysplasia
name as many Autosomal Dominant conditions as possible (related to ortho)
- achondroplasia
- metaphyseal chondrodysplasia (Schmid and Jansen types)
- Syndactyly
- polydactyly
- Marfans
- Cleidocranial dysplasia
- MHE
- MED
- Kneist’s
- ehler-danlos
- OI (type I and IV)
- osteopetrosis
- malignant hyperthermia
t(9;22)
myxoid chondrosarc
apert syndrome gene
FGFR2
t(x;18)
synovial sarcoma
Achondroplasia
FGFR3 Chris’s mnemonic: Think of a little dwarf running into battle yelling “fgfr fgfr fgfr”
name as many Autosomal Recessive conditions as possible (related to ortho)
Gaucher’s
Diastrophic dysplasia
Friedrich’s Ataxia
Spinal Muscular Atrophy
Sickle cell
OI (types II, III)
hypophosphatasia
infantile osteopetrosis