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Boards Orthopaedics
Genetic Pearls
27
Medical
Professional
06/30/2016
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Term
Ewing's Sarcoma
 Definition
t(11;22) EWS-FL1
Term
Rhabdomyosarcoma
 Definition
t(2;13) Pax3-FKHR
Term
Myxoid Liposarcoma
 Definition
t(12;16) TLS-Chop
Term
Synovial Sarcoma
 Definition
t(x;18) SYT-SSX1
Term
Clear Cell
 Definition
t(12;22) EWS-ATF1
Term
Chondrosarcoma (Myxoid)
 Definition
t(9;22) EWS-CHN
Term
Retinoblastom protein (pRB-1)
 Definition
Osteosarcoma
Unable to bind DNA
Term
p53
 Definition
50% All tumors
Ostoesarcomas
Chondrosarcoma
Term
Achondroplasia
 Definition
FGFR-3
Inhibit Proliferation
AD
Term
Apert Syndrome
 Definition
FGFR-2
Inhibit Proliferation
AD
Term
Charcot Marie Tooth
 Definition
PMP 22
Nerve Demyelination
AD
Term
Pseudoachondroplasia
 Definition
COMP
Abnormal Cartilage Formation
AD
Term
SED Congenita
 Definition
COL2A1
Cartilage Matrix
AD
Term
MED- Type1
 Definition
COMP
Type 2 collagen
Term
Cleidocranial dysplasia
 Definition
CBFA-1
Impaired intramembranous ossification
AD
Term
OI
 Definition
COL1A1/COL1A2
Type 1 Collagen
AD
Term
Diastrophic Dysplasia
 Definition
DTD (Sulfate Transport)
AR
Term
Friedreich's Ataxia
 Definition
Frataxin
Term
Autosomal Recessive
 Definition
Diastrophic dysplasia
Friedreichs Ataxia
Gauger
SMA
Sickle cell
Term
Sex Recessive (boys)
 Definition
Duchenne
Beckers
Hemophelia
Term
Sex Dominant
 Definition
Hypophophatemia
Term
Autosomal Dominant
 Definition
Syn/Polydactyly
Marfans
Cleidocranial
MHE
Achondroplasi
MED
Ehlers-Danlos
OI
Term
Southern Blot
 Definition
DNA
Term
Northern Blot
 Definition
RNA
Term
Western Blot
 Definition
Protein
Term
PCR
 Definition
Generate multiple copies of DNA from DNA
Term
RT-PCR
 Definition
Copies of DNA from RNA
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