Genetics

Question 1

HLA A3, A6

Answer 1

Hemochromatosis

Question 2

Ret

Answer 2

Medullary thyroid cancer

Question 3

Hamartoma

Answer 3

Abnormal growth of normal tissue

Question 4

Turner’s

Answer 4

45 XOFemaleWeb neckCystic hygromaShield chestCoarctation of aorta

Question 5

HLA B13

Answer 5

Psoriasis w/o arthritis

Question 6

XXX Syndrome

Answer 6

47 XXXNormal female with 2 Barr bodies

Question 7

-oma

Answer 7

Tumor

Question 8

HLA DR3

Answer 8

Celiac Sprue

Question 9

Rhabdomyo-

Answer 9

Skeletal muscle

Question 10

Rb

Answer 10

Ewing’s sarcomaRetinoblastoma

Question 11

Dinucleotide repeat disease

Answer 11

HNPCC

Question 12

Cancers with psammoma bodies

Answer 12

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

Question 13

Prader-Willi

Answer 13

HyperphagiaHypogonadismAlmond-shaped eyes

Question 14

bcl-2

Answer 14

Follicular lymphoma

Question 15

Angleman’s

Answer 15

Happy Baby SyndromeAtaxia

Question 16

-sarcoma

Answer 16

CT cancer

Question 17

t(11,22)

Answer 17

Ewing’s sarcoma

Question 18

t(8,14)

Answer 18

Burkitt’s lymphoma

Question 19

Malignant

Answer 19

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

Question 20

XXY Syndrome

Answer 20

47 XXYMaleAggressive, violent behaviorTall

Question 21

Mitochondrial diseases can be traced back to

Answer 21

Mom to all kids

Question 22

X-linked Recessive diseases can be traced back to

Answer 22

Maternal uncle or grandpa

Question 23

AD

Answer 23

Structural problem50% chance of passing it on

Question 24

Trisomy 13

Answer 24

PatauPolydactylyHigh arched palatePeeing problemHoloprosencephaly

Question 25

Typical incidence of rare things

Answer 25

1-3%

Question 26

Choristoma

Answer 26

Normal tissue in the wrong place

Question 27

Anaplasia

Answer 27

Cells regress to infantile state

Question 28

Trinucleotide repeat diseasea

Answer 28

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

Question 29

CA-125

Answer 29

Ovarian

Question 30

Leimyo-

Answer 30

SM

Question 31

Benign

Answer 31

Well circumscribedFeely moveableMaintains capsuleObeys physiologyHurts by compressionSlow growing

Question 32

Hypertrophy

Answer 32

Increased cell size

Question 33

Kallman's

Answer 33

AnosmiaSmall testes

Question 34

HLA DR4

Answer 34

Phemphigus vulgaris

Question 35

Mitochondrial diseases

Answer 35

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

Question 36

Osteo-

Answer 36

Bone

Question 37

Atrophy

Answer 37

Decreased organ or tissue size

Question 38

t(9,22)

Answer 38

CML

Question 39

Trisomy 18

Answer 39

Edward'sRockerbottom feet

Question 40

X-linked Dominant diseases

Answer 40

Vitamin D resistant Ricketts Pseudohypoparathyroidism

Question 41

Desmoplasia

Answer 41

Cell wraps itself with dense fibrous tissue

Question 42

Organs that have the most occurrence of metastasis

Answer 42

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

Question 43

t(15,17)

Answer 43

AML/PML

Question 44

Hyperplasia

Answer 44

Increased cell number

Question 45

l-myc

Answer 45

Small cell lung cancer

Question 46

Klinefelter's

Answer 46

47 XXYMaleTallGynecomastiaInfertilityDecreased testosterone

Question 47

Self mutilation, X-linked disease

Answer 47

Lesch Nyhan HGPRT deficiency

Question 48

Trisomy 21

Answer 48

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

Question 49

HLA DR5

Answer 49

Pernicious anemia

Question 50

Fastest killing cancers

Answer 50

PancreaticEsophageal

Question 51

MC posterior mediastinum tumor

Answer 51

Neuro tumors

Question 52

Adeno-

Answer 52

Glandular

Question 53

Bombesin

Answer 53

Neuroblastoma

Question 54

PSA

Answer 54

Prostate

Question 55

S-100

Answer 55

Melanoma

Question 56

MC middle mediastinum tumor

Answer 56

Pericardial

Question 57

HLA DR2

Answer 57

Goodpasture'sMS

Question 58

X-linked Recessive diseases can be traced back to

Answer 58

Dad to daughter

Question 59

Typical incidence with 2 risk factors

Answer 59

50%

Question 60

MC anterior mediastinum tumor

Answer 60

Thymoma

Question 61

HLA B5

Answer 61

Behcet's

Question 62

Lipo-

Answer 62

Fat

Question 63

X-linked Recessive diseases

Answer 63

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

Question 64

Ras

Answer 64

Colon

Question 65

Metaplasia

Answer 65

Change from one adult cell type to another

Question 66

Neoplasm

Answer 66

New growth

Question 67

AR

Answer 67

Enzyme deficiency25% get it67% carry it

Question 68

5HT

Answer 68

Carcinoid syndrome

Question 69

Typical incidence with 1 risk factor

Answer 69

10%

Question 70

Typical incidence with 3 risk factors

Answer 70

90%

Question 71

HLA B27

Answer 71

PsoriasisAnkylosing spondylitisReiter's

Question 72

beta-HCG

Answer 72

Choriocarcinoma

Question 73

Hemangio-

Answer 73

BV

Question 74

AFP

Answer 74

LiverYolk Sac

Question 75

bcr-abl

Answer 75

CML

Question 76

CA-19

Answer 76

Pancreatic

Question 77

-carcinoma

Answer 77

Cancer

Question 78

n-myc

Answer 78

Neuroblastoma

Question 79

CEA

Answer 79

ColonPancreas

Question 80

BRCA

Answer 80

Breast

Question 81

c-myc

Answer 81

Burkitt's lymphoma

Question 82

t(14,18)

Answer 82

Follicular lymphoma

Question 83

Dysplasia "carcinoma in situ"

Answer 83

Lose contact inhibition (cells crawl on each other)

Question 84

Why only 6 hours to administer tPA

Answer 84

Body has irreversible cell injury

Question 85

Why CPR is stopped after 20-30 minutes

Answer 85

Brain has irreversible cell injury