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BOARDS REVIEW ALL > Genetics > Flashcards

Genetics Flashcards

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

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

Multiple epiphyseal dysplasia

A

AD

- COMP (cartilage oligomeric protein)

18
Q

SED Congenita

A

AD

- type II collagen defect

19
Q

Apert syndrome

A

sporadic mutant

- FGFR2

20
Q

Pseudoachondroplasia

A

AD

- COMP

21
Q

All mucopolysaccharidoses

A

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

22
Q

Ochronosis

A

AR

- homogentisic acid oxidase system defect

23
Q

Osteopetrosis

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

Charcot Marie Tooth

A

AD

  • PMP22
  • peripheral myelin protein 22
25
Q

Spinal Muscular Atrophy

A

AR

26
Q

Neurofibromatosis Type I

A

AD

  • chromosome 17
  • neurofibromin mutation
27
Q

Dupuytren contracture

A

AD

28
Q

Holt-Oram Syndrome

A

AD

29
Q

Larsen Syndrome

A

AD or AR

30
Q

Radioulnar synostosis

A

AD

31
Q

Rett Syndrome

A

sporadic vs X linked dominant

32
Q

Thrombocytopenia Absent Radius Syndrome (TAR)

A

AR

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