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Flashcards in Genetics Deck (85):
1

HLA A3, A6

Hemochromatosis

2

Ret

Medullary thyroid cancer

3

Hamartoma

Abnormal growth of normal tissue

4

Turner's

45 XOFemaleWeb neckCystic hygromaShield chestCoarctation of aorta

5

HLA B13

Psoriasis w/o arthritis

6

XXX Syndrome

47 XXXNormal female with 2 Barr bodies

7

-oma

Tumor

8

HLA DR3

Celiac Sprue

9

Rhabdomyo-

Skeletal muscle

10

Rb

Ewing's sarcomaRetinoblastoma

11

Dinucleotide repeat disease

HNPCC

12

Cancers with psammoma bodies

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

13

Prader-Willi

HyperphagiaHypogonadismAlmond-shaped eyes

14

bcl-2

Follicular lymphoma

15

Angleman's

Happy Baby SyndromeAtaxia

16

-sarcoma

CT cancer

17

t(11,22)

Ewing's sarcoma

18

t(8,14)

Burkitt's lymphoma

19

Malignant

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

20

XXY Syndrome

47 XXYMaleAggressive, violent behaviorTall

21

Mitochondrial diseases can be traced back to

Mom to all kids

22

X-linked Recessive diseases can be traced back to

Maternal uncle or grandpa

23

AD

Structural problem50% chance of passing it on

24

Trisomy 13

PatauPolydactylyHigh arched palatePeeing problemHoloprosencephaly

25

Typical incidence of rare things

1-3%

26

Choristoma

Normal tissue in the wrong place

27

Anaplasia

Cells regress to infantile state

28

Trinucleotide repeat diseasea

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

29

CA-125

Ovarian

30

Leimyo-

SM

31

Benign

Well circumscribedFeely moveableMaintains capsuleObeys physiologyHurts by compressionSlow growing

32

Hypertrophy

Increased cell size

33

Kallman's

AnosmiaSmall testes

34

HLA DR4

Phemphigus vulgaris

35

Mitochondrial diseases

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

36

Osteo-

Bone

37

Atrophy

Decreased organ or tissue size

38

t(9,22)

CML

39

Trisomy 18

Edward'sRockerbottom feet

40

X-linked Dominant diseases

Vitamin D resistant Ricketts Pseudohypoparathyroidism

41

Desmoplasia

Cell wraps itself with dense fibrous tissue

42

Organs that have the most occurrence of metastasis

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

43

t(15,17)

AML/PML

44

Hyperplasia

Increased cell number

45

l-myc

Small cell lung cancer

46

Klinefelter's

47 XXYMaleTallGynecomastiaInfertilityDecreased testosterone

47

Self mutilation, X-linked disease

Lesch Nyhan HGPRT deficiency

48

Trisomy 21

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

49

HLA DR5

Pernicious anemia

50

Fastest killing cancers

PancreaticEsophageal

51

MC posterior mediastinum tumor

Neuro tumors

52

Adeno-

Glandular

53

Bombesin

Neuroblastoma

54

PSA

Prostate

55

S-100

Melanoma

56

MC middle mediastinum tumor

Pericardial

57

HLA DR2

Goodpasture'sMS

58

X-linked Recessive diseases can be traced back to

Dad to daughter

59

Typical incidence with 2 risk factors

50%

60

MC anterior mediastinum tumor

Thymoma

61

HLA B5

Behcet's

62

Lipo-

Fat

63

X-linked Recessive diseases

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

64

Ras

Colon

65

Metaplasia

Change from one adult cell type to another

66

Neoplasm

New growth

67

AR

Enzyme deficiency25% get it67% carry it

68

5HT

Carcinoid syndrome

69

Typical incidence with 1 risk factor

10%

70

Typical incidence with 3 risk factors

90%

71

HLA B27

PsoriasisAnkylosing spondylitisReiter's

72

beta-HCG

Choriocarcinoma

73

Hemangio-

BV

74

AFP

LiverYolk Sac

75

bcr-abl

CML

76

CA-19

Pancreatic

77

-carcinoma

Cancer

78

n-myc

Neuroblastoma

79

CEA

ColonPancreas

80

BRCA

Breast

81

c-myc

Burkitt's lymphoma

82

t(14,18)

Follicular lymphoma

83

Dysplasia "carcinoma in situ"

Lose contact inhibition (cells crawl on each other)

84

Why only 6 hours to administer tPA

Body has irreversible cell injury

85

Why CPR is stopped after 20-30 minutes

Brain has irreversible cell injury