Human Genetics: AD/AR/XAR/XAD/Others Flashcards

1
Q

CAH

A

AR

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2
Q

Fragile X-Syndrome

A

XR,TNR

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3
Q

Achondroplasia

A

AD

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4
Q

Thanatoporic dysplasia

A

AD

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5
Q

PKU

A

AR

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6
Q

CF

A

AR

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7
Q

Duchenne Muscular Dystrophy

A

XR

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8
Q

Crouzon syndrome with acanthosis nigricans

A

AD

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9
Q

Nonsyndromic craniosynostosis

A

AD

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10
Q

Friedreich’s ataxia

A

AR

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11
Q

Hemophilia A

A

XR

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12
Q

Rett Syndrome

A

XR

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13
Q

Gaucher ds

A

AR

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14
Q

Color blindness

A

XR

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15
Q

NF-1

A

AD

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16
Q

NF-2

A

AD

17
Q

Huntington Disease

A

AD

18
Q

Myotonic Dystrophy

A

AD

19
Q

Sickle Cell ds

A

AR

20
Q

Adrenoekodystrophy

A

XR

21
Q

G6PD

A

XR

22
Q

Marfan Syndrome

A

AD

23
Q

Apert’s Syndrome

A

AD

24
Q

Tay Sach’s

A

AR

25
Q

Vitamin D resistant Rickets

A

XD

26
Q

Fanconi Anemia

A

AR

27
Q

Canvan Disease

A

AR

28
Q

Osteogenesis Imperfecta

A

AD