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BOARDS REVIEW ALL > Genetics > Flashcards

Genetics Flashcards

(32 cards)

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1
Q

Syndactyly/Polydactyly

A

AD

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2
Q

Marfan syndrome

A

AD

- fibrilin 1

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3
Q

MHE

A

AD

- EXT1/2/3

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4
Q

Malignant hyperthermia

A

AD

- increased end tidal CO2 is the first sign

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5
Q

Ehlers-Danlos

A

AD

- type III collagen

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6
Q

Achondroplasia

A

AD

  • FGFR3
  • overactive
  • proliferative growth plate zone
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7
Q

Osteogensis imperfecta

A

AD

- COL1a

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8
Q

Hypophosphatemic rickets

A

X linked dominant

- PHEX gene

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9
Q

Leri-Weil dyschondrosteosis

A

X linked dominant

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10
Q

Duchenne Muscular dystrophy

A

X linked recessive

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11
Q

Becker muscular dystrophy

A

X linked recessive

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12
Q

Hunter syndrome

A

X linked recessive

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13
Q

Hemophilia

A

X linked recessive

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14
Q

SED Tarda

A

X linked recessive

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15
Q

diastrophic Dysplasia

A

AR

- DTDST (sulfate transporter)

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16
Q

McCune Albright Syndrome

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A
  • sporadic mutation
  • G alpha s subunit mutant
  • adenylyl cyclate coupling G protein mutants
17
Q

Multiple epiphyseal dysplasia

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A

AD

- COMP (cartilage oligomeric protein)

18
Q

SED Congenita

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A

AD

- type II collagen defect

19
Q

Apert syndrome

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A

sporadic mutant

- FGFR2

20
Q

Pseudoachondroplasia

21
Q

All mucopolysaccharidoses

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A

Hunter is X linked recessive
everything else is autosomal recessive
- morquio

22
Q

Ochronosis

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A

AR

- homogentisic acid oxidase system defect

23
Q

Osteopetrosis

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A 
AD = mild form
AR = infantile malignant form
24
Q

Charcot Marie Tooth

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A

AD

  • PMP22
  • peripheral myelin protein 22
25
Spinal Muscular Atrophy
AR
26
Neurofibromatosis Type I
AD - chromosome 17 - neurofibromin mutation
27
Dupuytren contracture
AD
28
Holt-Oram Syndrome
AD
29
Larsen Syndrome
AD or AR
30
Radioulnar synostosis
AD
31
Rett Syndrome
sporadic vs X linked dominant
32
Thrombocytopenia Absent Radius Syndrome (TAR)
AR

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