Chromosomes Flashcards

1
Q

Chromosome 3

A

Von Hippel-Lindau

Renal Cell Carcinoma

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2
Q

Chromosome 4

A

ADPKD (PKD2)
Achondroplasia
Huntington Disease

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3
Q

Chromosome 5

A

Cri-Du-Chat syndrome

Familial Adenomatous Polyposis

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4
Q

Chromosome 6

A

Hemochromatosis (HFE)

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5
Q

Chromosome 7

A

Williams Syndrome

Cystic Fibrosis

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6
Q

Chromosome 9

A

Friedrich Ataxia

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7
Q

Chromosome 11

A

Wilms Tumor
Beta-Globin gene defects - Sickle Cell, Beta-Thalassemia
MEN1

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8
Q

Chromosome 13

A

Patau Syndrome
Wilson Disease
Retinoblastoma (RB1)
BRCA2

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9
Q

Chromosome 15

A

Prader-Willi syndrome
Angelman syndrome
Marfan syndrome

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10
Q

Chromosome 16

A

ADPKD (PKD1)

Alpha-Thalassemia

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11
Q

Chromosome 17

A

NF-1
BRCA1
p53

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12
Q

Chromosome 18

A

Edwards Syndrome

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13
Q

Chromosome 21

A

Down Syndrome

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14
Q

Chromosome 22

A
NF-2
DiGeorge Syndrome (22q11)
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15
Q

X Chromosome

A

Fragile X, X-Linked Agammaglobulinemia, Klinefelter (XXY)

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