Quick Snappers: Genetic Associations Flashcards

1
Q

t(12;16)

A

Myxoid liposarc

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

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

A

RECQL4 - osteosarcoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Osteogenesis Imperfecta Gene

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Duchenne Muscular Dystrophy

A

Dystrophin Gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

t(12;22)

A

clear cell sarcoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Neurofibromatosis

A

NF1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Spinal Muscular Atrophy

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Marfan’s

A

FBN-1 (fibrillin)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

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

A

CMT

osteopetrosis

OI

NF

SED

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

MED type 1 gene

A

COMP

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Retinoblastoma - name the gene affected and associated tumour

A

RB1 - osteosarcoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

oilier’s disease

A

PTHR1 - GNAS1 - enchondromas, chondrosarc

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

cleidocranial dysplasia gene

A

CBFA-1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Ehlers-Danlos Gene

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

t(2;13)

A

alveolar rhabdomyosarc

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

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

A

hypophosphatemic rickets

leri-weil dyschondrosteosis

17
Q

SED gene

A

COL2A1

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

A

FGFR2

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
Q

NF1 - name the gene affected and associated tumour

A

NF1 gene - neurofibromas and malignant peripheral nerve sheath tumours

26
Q

Madelung’s: Gene and syndrome

A

SHOX Leri-Weill Dyschondrosteosis Mesomelic dwarf

27
Q

t(11;22)

A

Ewings/PNET

28
Q

diastrophic dysplasia gene

A

DTD

29
Q

McCune Albright syndrome - name the gene affected and associated ortho condition

A

GNAS1 - fibrous dysplasia

30
Q

Friedrich’s ataxia

A

Frataxin gene

31
Q

Li Fraumeni syndrome - name the gene affected and associated tumour

A

p53. Osteosarc and rhabdomyosarc

32
Q

pseudoachondroplasia gene

A

COMP

33
Q

MHE - name the gene affected and associated tumour

A

EXT1, EXT2 - osteochondromas, secondary chondrosarc

34
Q

SED Tarda gene

A

COL2A1

35
Q

Maffucci syndrome

A

PTHR1 - enchondromas, angiomas, chondrosarc, angiosarc

36
Q

CMT

A

PMP22 - Peripheral myelin protein: CMT is a demyelinating disease

37
Q

Name as many X-linked recessive conditions as possible

(related to ortho)

A

Duchenne MD

Becker MD

Hunter syndrome

hemophilia

SED tarda

38
Q

FGFR2

A

Apert’s Syndrome (you said achondroplasia, didn’t you…you’re a disappointment) Achondroplasia is FGFR3