Chromosome Flashcards

1
Q

Chromosome 3

A

VON HIPPEL LINDAU DSE

RENAL CELL CARCINOMA

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2
Q

Chromosome 4

A

AD POLYCYSTIC KIDNET DSE (PKD 2)
ACHONDROPLASIA
HUNTINGTON DSE

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3
Q

Chromosome 5

A

Cri du chat syndrome

Familial adenomatous polyposis

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4
Q

Chromosome 5

A

Cri du chat syndrome

Familial adenomatous polyposis

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5
Q

Chromosome 6

A

Primary hemochromatosis

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6
Q

Chromosome 7

A

Williams syndrome

Cystic fibrosis

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7
Q

Chromosome 9

A
Friedreich ataxia
Tuberous sclerosis (tsc1)
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8
Q

Chromosome 11

A

Wilms tumor
Beta thalassemia
Sickle cell dse
MEN 1

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9
Q

Chromosome 13

A

Patau syndrome
Wilson dse
Retinoblastoma
BRCA2 assoc disorders

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10
Q

Chromosome 15

A

Prader willi syndrome
Angelman syndrome
Marfan syndrome

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11
Q

Chromosome 16

A

AD Polycystic kidney disease (PKD 1)
Alpha thalassemia
Tuberous sclerosis (tsc2)

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12
Q

Chromosome 17

A

Neurofibromatosis type 1
BRCA1 associated disorders
TP53 associated disorders

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13
Q

Chromosome 18

A

Edwards syndrome

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14
Q

Chromosome 21

A

Down syndrome

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15
Q

Chromosome 22

A

Neurofibromatosis type 2

Di george syndrome (22q11)

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16
Q

Chromosome x

A

Fragile x syndrome
X linked agammaglobulinemia
Klinefelter syndrome