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Rapid Review First Aid > Genetic Disorders by Chromosome > Flashcards

Genetic Disorders by Chromosome Flashcards

1
Q

Genetic Disorders by Chromosome

3

A

von Hippel-Lindau disease

Renal cell carcinoma

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2
Q

Genetic Disorders by Chromosome

4

A

ADPKD (PKD2)
Achondroplasia
Huntington disease

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3
Q

Genetic Disorders by Chromosome

5

A

Cri-du-chat syndrome

Familial adenomatous polyposis

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4
Q

Genetic Disorders by Chromosome

6

A

Hemochromatosis (HFE)

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5
Q

Genetic Disorders by Chromosome

7

A

Williams syndrome

Cystic fibrosis

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6
Q

Genetic Disorders by Chromosome

9

A

Friedreich ataxia

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7
Q

Genetic Disorders by Chromosome

11

A

Wilms tumor

β-globin gene defect (eg. sickle cell disease, β-thalassemia)

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8
Q

Genetic Disorders by Chromosome

13

A

Patau syndrome
Wilson disease
Retinoblastoma (RB1)
BRCA2

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9
Q

Genetic Disorders by Chromosome

15

A

Prader-Willi syndrome
Angelman syndrome
Marfan syndrome

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10
Q

Genetic Disorders by Chromosome

16

A

ADPKD (PKD1)

α-globin gene defects (eg. α-thalassemia)

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11
Q

Genetic Disorders by Chromosome

17

A

Neurofibromatosis tpe 1

BRCA1

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12
Q

Genetic Disorders by Chromosome

18

A

Edwards sydrome

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13
Q

Genetic Disorders by Chromosome

21

A

Down syndrome

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14
Q

Genetic Disorders by Chromosome

22

A 
Neurofibromatosis type 2
DiGeorge sydnrome (22q11)
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15
Q

Genetic Disorders by Chromosome

X

A

Fragile X syndrome
X-linked agammaglobulinemia
Klinefelter syndrome (XXY)

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Rapid Review First Aid (6 decks)

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