Quick Snappers: Genetic Associations Flashcards

1
Q

t(12;16)

A

Myxoid liposarc

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2
Q

Rothmund-Thompson syndrome - name the gene affected and associated tumour

A

RECQL4 - osteosarcoma

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3
Q

Osteogenesis Imperfecta Gene

A

COL1A1, COL1A2 (don’t mix up with ehler’s danlos - COL5A1/2)

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4
Q

Duchenne Muscular Dystrophy

A

Dystrophin Gene

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5
Q

t(12;22)

A

clear cell sarcoma

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6
Q

Neurofibromatosis

A

NF1

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7
Q

Spinal Muscular Atrophy

A

Survival Motor Neuro (SMN) Think: defective survival motor neuron decreases survival: SMA is often fatal

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8
Q

Marfan’s

A

FBN-1 (fibrillin)

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9
Q

name as many conditions as possible with multiple inheritance patterns (ortho related)

A

CMT

osteopetrosis

OI

NF

SED

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10
Q

MED type 1 gene

A

COMP

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11
Q

Retinoblastoma - name the gene affected and associated tumour

A

RB1 - osteosarcoma

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12
Q

oilier’s disease

A

PTHR1 - GNAS1 - enchondromas, chondrosarc

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13
Q

cleidocranial dysplasia gene

A

CBFA-1

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14
Q

Ehlers-Danlos Gene

A

Classic: COL5A1/2 Don’t mix up with OI: COL1A1 & COL1A2

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15
Q

t(2;13)

A

alveolar rhabdomyosarc

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16
Q

name as many x-linked dominant conditions as possible (ortho related)

A

hypophosphatemic rickets

leri-weil dyschondrosteosis

17
Q

SED gene

18
Q

mazabraud syndrome - name the gene affected and associated tumour

A

GNAS1 - IM myxomas and fibrous dysplasia

19
Q

name as many Autosomal Dominant conditions as possible (related to ortho)

A
  • 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
20
Q

t(9;22)

A

myxoid chondrosarc

21
Q

apert syndrome gene

22
Q

t(x;18)

A

synovial sarcoma

23
Q

Achondroplasia

A

FGFR3 Chris’s mnemonic: Think of a little dwarf running into battle yelling “fgfr fgfr fgfr”

24
Q

name as many Autosomal Recessive conditions as possible (related to ortho)

A

Gaucher’s

Diastrophic dysplasia

Friedrich’s Ataxia

Spinal Muscular Atrophy

Sickle cell

OI (types II, III)

hypophosphatasia

infantile osteopetrosis

25
NF1 - name the gene affected and associated tumour
NF1 gene - neurofibromas and malignant peripheral nerve sheath tumours
26
Madelung's: Gene and syndrome
SHOX Leri-Weill Dyschondrosteosis Mesomelic dwarf
27
t(11;22)
Ewings/PNET
28
diastrophic dysplasia gene
DTD
29
McCune Albright syndrome - name the gene affected and associated ortho condition
GNAS1 - fibrous dysplasia
30
Friedrich's ataxia
Frataxin gene
31
Li Fraumeni syndrome - name the gene affected and associated tumour
p53. Osteosarc and rhabdomyosarc
32
pseudoachondroplasia gene
COMP
33
MHE - name the gene affected and associated tumour
EXT1, EXT2 - osteochondromas, secondary chondrosarc
34
SED Tarda gene
COL2A1
35
Maffucci syndrome
PTHR1 - enchondromas, angiomas, chondrosarc, angiosarc
36
CMT
PMP22 - Peripheral myelin protein: CMT is a demyelinating disease
37
Name as many X-linked recessive conditions as possible (related to ortho)
Duchenne MD Becker MD Hunter syndrome hemophilia SED tarda
38
FGFR2
Apert's Syndrome (you said achondroplasia, didn't you...you're a disappointment) Achondroplasia is FGFR3