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My USMLE > Chromosomes > Flashcards

Chromosomes Flashcards

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1
Q

t8:14

A

Burkitt’s lymphoma

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2
Q

t 11:22

A

Ewing’s sarcoma

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3
Q

t 9:22

A

CML

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4
Q

t 11:14

A

Mantle cell lymphoma

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5
Q

t 14:18

A

Folicular lymphoma

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6
Q

chromosome 13

A

Rb Retinoblastoma, Wilsons and BRCA2

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7
Q

chromosome 3

A

VHL Von Hippel Lindau, Renal Cell Ca

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8
Q

chromosome 11

A

WT1 & WT2, B globin gene defects (sickle cell anemia, B thalassemia, MEN1)

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9
Q

17p13.1

A

Li Fraumeni syndrome

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10
Q

17q12-21

A

BRCA1 ovarian and breast ca

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11
Q

13q12-13

A

BRCA2 breast ca

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12
Q

chromosome 5

A

adenomatous polyposis coli & cri du chat

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13
Q

17q11.2

A

NF-1 Neurofibromatosis type 2

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14
Q

22q12

A

NF 2 neurofibromatosis type 2

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15
Q

chromosome 9

A

Frataxin/ Friedrich ataxia

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16
Q

22q11 deletion

A

Di George Syndrome

17
Q

Chromosome 15

A

Fibrillin/ Marfan syndrome, Prader willi and Angelman

18
Q

Chromosome 16

A

APKD 1/Adult polycystic kidney disease, a Globin chain (a thalassemia)

19
Q

Chromosome 4

A

APKD 2/ Adult Polycystic Kidney Disease, achindroplasia, huntingtons

20
Q

alkaptonuria

A

chromosome 3; homogentisic acid oxidase

21
Q

Hartnup disease

A

Chromosome 5 (5p15) defective transport of neutral amino acid vs cystinuria - defective transport of dibasic amino acid

22
Q

Renal diseases linked to Chromosome 16

A

Gitelman’s syndrome & Renal Glucosuria

23
Q

ALK-1/ENG

A

Hereditary Hemorrhagic Telengiectasia

24
Q

HFE gene

A

Hereditary Hemochromatosis

25
Q

WASP gene

A

Wiskott Aldrich Syndrome

26
Q

neurofibromatosis

A

NF2 gene found in chromosome 22

27
Q

chromosome 10

A

RET proto-oncogene; MEN 2A & MEN2B

28
Q

chromosome 17

A

Li Fraumeni syndrome, NF1, BRCA1

29
Q

COL1A1 COL1A2

A

Osteogenesis Imperfecta

30
Q

COL5A1 AND COL5A2

A

Ehker Danlos Classic Type- joint and skin Collagen typenV

31
Q

FBN1 mutation on chr.5

A

Marfan syndrome

32
Q

chromosome 7, deletion of Phe508

A

cystic fibrosis; most lethal disease in the caucasian population

33
Q

chromosome 6

A

Hemochromatosis

34
Q

Chromosome 7

A

Williams syndrome, cystic fibrosis

35
Q

chromosome 22

A

NF2, Di George syndrome

My USMLE (11 decks)

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