Genetic Disorders by Chromosome Flashcards by Sarah Hogan | Brainscape

Q

Chromosome 3

A

vHL

Renal cell carcinoma

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Q

Chromosome 4

A

Auto Rec Polycystic Kidney Disease (ARPKD) - PKD2

Achondroplasia

Huntingtons

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Q

Chromosome 5

A

Cri-du-chat

Familial adematous polyposis

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Q

Chromosome 6

A

Hemochromatosis

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Q

Chromosome 7

A

William’s Syndrome

CF

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Q

Chromosome 9

A

Friedrich ataxia

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Q

Chromosome 11

A

Wilms tumor

Beta-globin gene defects (sickle cell, beta-thalassemia, MEN1)

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Q

Chromosome 13

A

Patau (trisomy - P puberty age)

Wilson Disease (13 lucky like a copper penny)

Retinoblastoma (RB1)

BRCA2

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Q

Chromosome 15

A

Prader-Willi

Angelman

Marfan

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Q

Chromosome 16

A

ADPKD - PKD1

alpha-globin gene defects (alpha- thalassemia)

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Q

Chromosome 17

A

Neurofibromatosis Type 1

BRCA1

p53

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Q

Chromosome 18

A

Edwards (trisomy - E election age)

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Q

Chromsome 21

A

Down Syndrome (trisomy- D drinking age)

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Q

Chromosome 22

A

Neurofibromatosis Type 2

DiGeorge (22q11)

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Q

X

A

Fragile X

X-linked agammaglobinemia

Klinefelter (XXY)

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