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Genetics Flashcards

1
Q

HLA A3, A6

A

Hemochromatosis

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2
Q

Ret

A

Medullary thyroid cancer

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3
Q

Hamartoma

A

Abnormal growth of normal tissue

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4
Q

Turner’s

A

45 XOFemaleWeb neckCystic hygromaShield chestCoarctation of aorta

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5
Q

HLA B13

A

Psoriasis w/o arthritis

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6
Q

XXX Syndrome

A

47 XXXNormal female with 2 Barr bodies

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7
Q

-oma

A

Tumor

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8
Q

HLA DR3

A

Celiac Sprue

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9
Q

Rhabdomyo-

A

Skeletal muscle

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10
Q

Rb

A

Ewing’s sarcomaRetinoblastoma

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11
Q

Dinucleotide repeat disease

A

HNPCC

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12
Q

Cancers with psammoma bodies

A

PSAMMPapillary (thyroid)Serous (ovary)Adenocarcinoma (ovary)MeningiomaMesothelioma

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13
Q

Prader-Willi

A

HyperphagiaHypogonadismAlmond-shaped eyes

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14
Q

bcl-2

A

Follicular lymphoma

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15
Q

Angleman’s

A

Happy Baby SyndromeAtaxia

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16
Q

-sarcoma

A

CT cancer

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17
Q

t(11,22)

A

Ewing’s sarcoma

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18
Q

t(8,14)

A

Burkitt’s lymphoma

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19
Q

Malignant

A

Not well circumscribedFixed No capsuleDoesn’t obey physiologyHurts by metastasisRapidly growingOutgrows blood supply –> hunts for blood –> secretes angiogenin and endostatin to inhibit blood supply of other tumors

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20
Q

XXY Syndrome

A

47 XXYMaleAggressive, violent behaviorTall

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21
Q

Mitochondrial diseases can be traced back to

A

Mom to all kids

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22
Q

X-linked Recessive diseases can be traced back to

A

Maternal uncle or grandpa

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23
Q

AD

A

Structural problem50% chance of passing it on

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24
Q

Trisomy 13

A

PatauPolydactylyHigh arched palatePeeing problemHoloprosencephaly

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25
Q

Typical incidence of rare things

A

1-3%

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26
Q

Choristoma

A

Normal tissue in the wrong place

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27
Q

Anaplasia

A

Cells regress to infantile state

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28
Q

Trinucleotide repeat diseasea

A

Huntington’s (CAG)Fragile X (CGG)Myotonic Dystrophy (CTG)Fredrick’s Ataxia (GAA)

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29
Q

CA-125

A

Ovarian

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30
Q

Leimyo-

A

SM

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31
Q

Benign

A

Well circumscribedFeely moveableMaintains capsuleObeys physiologyHurts by compressionSlow growing

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32
Q

Hypertrophy

A

Increased cell size

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33
Q

Kallman’s

A

AnosmiaSmall testes

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34
Q

HLA DR4

A

Phemphigus vulgaris

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35
Q

Mitochondrial diseases

A

Leber’s (atrophy of optic nerve)Leigh’s (subacute necrotizing encephalopathy)

36
Q

Osteo-

37
Q

Atrophy

A

Decreased organ or tissue size

38
Q

t(9,22)

39
Q

Trisomy 18

A

Edward’sRockerbottom feet

40
Q

X-linked Dominant diseases

A

Vitamin D resistant Ricketts Pseudohypoparathyroidism

41
Q

Desmoplasia

A

Cell wraps itself with dense fibrous tissue

42
Q

Organs that have the most occurrence of metastasis

A

Brain (grey-white junction)Bone (marrow)LungLiver (portal vein, hepatic artery)Adrenal gland (renal arteries)Pericardium (coronary arteries)

43
Q

t(15,17)

44
Q

Hyperplasia

A

Increased cell number

45
Q

l-myc

A

Small cell lung cancer

46
Q

Klinefelter’s

A

47 XXYMaleTallGynecomastiaInfertilityDecreased testosterone

47
Q

Self mutilation, X-linked disease

A

Lesch Nyhan HGPRT deficiency

48
Q

Trisomy 21

A

Down’sSimian creaseWide 1st/2nd toesMacroglossiaMongolian slant of eyesBrushfield spotsRetardation

49
Q

HLA DR5

A

Pernicious anemia

50
Q

Fastest killing cancers

A

PancreaticEsophageal

51
Q

MC posterior mediastinum tumor

A

Neuro tumors

52
Q

Adeno-

53
Q

Bombesin

A

Neuroblastoma

54
Q

PSA

55
Q

S-100

56
Q

MC middle mediastinum tumor

A

Pericardial

57
Q

HLA DR2

A

Goodpasture’sMS

58
Q

X-linked Recessive diseases can be traced back to

A

Dad to daughter

59
Q

Typical incidence with 2 risk factors

60
Q

MC anterior mediastinum tumor

61
Q

HLA B5

A

Behcet’s

62
Q

Lipo-

63
Q

X-linked Recessive diseases

A

Hunter’s (iduronidase deficiency)Fabry’s (alpha-galactosidase deficiency)PDH deficiency

64
Q

Ras

65
Q

Metaplasia

A

Change from one adult cell type to another

66
Q

Neoplasm

A

New growth

67
Q

AR

A

Enzyme deficiency25% get it67% carry it

68
Q

5HT

A

Carcinoid syndrome

69
Q

Typical incidence with 1 risk factor

70
Q

Typical incidence with 3 risk factors

71
Q

HLA B27

A

PsoriasisAnkylosing spondylitisReiter’s

72
Q

beta-HCG

A

Choriocarcinoma

73
Q

Hemangio-

74
Q

AFP

A

LiverYolk Sac

75
Q

bcr-abl

76
Q

CA-19

A

Pancreatic

77
Q

-carcinoma

78
Q

n-myc

A

Neuroblastoma

79
Q

CEA

A

ColonPancreas

80
Q

BRCA

81
Q

c-myc

A

Burkitt’s lymphoma

82
Q

t(14,18)

A

Follicular lymphoma

83
Q

Dysplasia “carcinoma in situ”

A

Lose contact inhibition (cells crawl on each other)

84
Q

Why only 6 hours to administer tPA

A

Body has irreversible cell injury

85
Q

Why CPR is stopped after 20-30 minutes

A

Brain has irreversible cell injury

PP clues (13 decks)

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