Genetic Diseases Flashcards

1
Q

Phenylketonuria

A

AR

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2
Q

Huntington’s Disease

A

AD

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3
Q

G6PD

A

XLR

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4
Q

Incontinentia Pigmenti

A

XLD

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5
Q

X-Linked Hypophosphatemia

A

XLD

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6
Q

Cystic Fibrosis

A

AR

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7
Q

DMD

A

XLR

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8
Q

NF-1

A

AD

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9
Q

Hemophilia A

A

XLR

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10
Q

Familial Cholesterolemia

A

AD

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11
Q

Achondroplasia

A

AD

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12
Q

Osteogenesis Imperfecta

A

AD

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13
Q

FAP

A

AD

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14
Q

Beta-Thalassemia

A

AR

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15
Q

Sickle Cell Anemia

A

AR

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16
Q

CMV Severity

A

Decrease

17
Q

Toxoplasmosis R&S

A

Risk increases

Severity decreases

18
Q

Rubella

A

Risk decreases

Severity decreases

19
Q

Syphilis Risk

A

To spirochete levels; 1/2 >3

20
Q

Varicella Risk

A

v high near delivery, careful live vaccine 3 mths

21
Q

Parovirus B19

A

High risk near start