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PP Clues > PP Clues - Genetics > Flashcards

PP Clues - Genetics Flashcards

1
Q

Typical incidence of rare things

A

1-3%

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2
Q

Typical incidence with 1 risk factor

A

10%

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3
Q

Typical incidence with 2 risk factors

A

50%

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4
Q

Typical incidence with 3 risk factors

A

90%

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5
Q

AD

A

Structural problem

50% chance of passing it on

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6
Q

AR

A

Enzyme deficiency
25% get it
67% carry it

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7
Q

X-linked Recessive diseases

A

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

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8
Q

X-linked Recessive diseases can be traced back to

A

Maternal uncle or grandpa

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9
Q

X-linked Dominant diseases

A

Vitamin D resistant Ricketts

Pseudohypoparathyroidism

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10
Q

X-linked Recessive diseases can be traced back to

A

Dad to daughter

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11
Q

Mitochondrial diseases

A

Leber’s (atrophy of optic nerve)

Leigh’s (subacute necrotizing encephalopathy)

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12
Q

Mitochondrial diseases can be traced back to

A

Mom to all kids

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13
Q

Why CPR is stopped after 20-30 minutes

A

Brain has irreversible cell injury

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14
Q

Why only 6 hours to administer tPA

A

Body has irreversible cell injury

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15
Q

Turner’s

A 
45 XO
Female
Web neck
Cystic hygroma
Shield chest
Coarctation of aorta
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16
Q

Klinefelter’s

A 
47 XXY
Male
Tall
Gynecomastia
Infertility
Decreased testosterone
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17
Q

XXX Syndrome

A

47 XXX

Normal female with 2 Barr bodies

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18
Q

XXY Syndrome

A

47 XXY
Male
Aggressive, violent behavior
Tall

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19
Q

Trisomy 13

A 
Patau
Polydactyly
High arched palate
Peeing problem
Holoprosencephaly
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20
Q

Trisomy 18

A

Edward’s

Rockerbottom feet

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21
Q

Trisomy 21

A 
Down's
Simian crease
Wide 1st/2nd toes
Macroglossia
Mongolian slant of eyes
Brushfield spots
Retardation
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22
Q

Dinucleotide repeat disease

A

HNPCC

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23
Q

Trinucleotide repeat diseasea

A

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

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24
Q

Angleman’s

A

Happy Baby Syndrome

Ataxia

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25
Q

Prader-Willi

A

Hyperphagia
Hypogonadism
Almond-shaped eyes

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26
Q

Kallman’s

A

Anosmia

Small testes

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27
Q

Anaplasia

A

Cells regress to infantile state

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28
Q

Atrophy

A

Decreased organ or tissue size

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29
Q

Desmoplasia

A

Cell wraps itself with dense fibrous tissue

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30
Q

Dysplasia “carcinoma in situ”

A

Lose contact inhibition (cells crawl on each other)

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31
Q

Hyperplasia

A

Increased cell number

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32
Q

Hypertrophy

A

Increased cell size

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33
Q

Metaplasia

A

Change from one adult cell type to another

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34
Q

Neoplasm

A

New growth

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35
Q

Benign

A 
Well circumscribed
Feely moveable
Maintains capsule
Obeys physiology
Hurts by compression
Slow growing
36
Q

Malignant

A 
Not well circumscribed
Fixed 
No capsule
Doesn't obey physiology
Hurts by metastasis
Rapidly growing
Outgrows blood supply --> hunts for blood --> secretes angiogenin and endostatin to inhibit blood supply of other tumors
37
Q

Fastest killing cancers

A

Pancreatic

Esophageal

38
Q

Adeno-

A

Glandular

39
Q

Leimyo-

A

SM

40
Q

Rhabdomyo-

A

Skeletal muscle

41
Q

Hemangio-

A

BV

42
Q

Lipo-

A

Fat

43
Q

Osteo-

A

Bone

44
Q

-oma

A

Tumor

45
Q

-carcinoma

A

Cancer

46
Q

-sarcoma

A

CT cancer

47
Q

Hamartoma

A

Abnormal growth of normal tissue

48
Q

Choristoma

A

Normal tissue in the wrong place

49
Q

MC anterior mediastinum tumor

A

Thymoma

50
Q

MC middle mediastinum tumor

A

Pericardial

51
Q

MC posterior mediastinum tumor

A

Neuro tumors

52
Q

Organs that have the most occurrence of metastasis

A 
Brain (grey-white junction)
Bone (marrow)
Lung
Liver (portal vein, hepatic artery)
Adrenal gland (renal arteries)
Pericardium (coronary arteries)
53
Q

Cancers with psammoma bodies

A 
PSAMM
Papillary (thyroid)
Serous (ovary)
Adenocarcinoma (ovary)
Meningioma
Mesothelioma
54
Q

CA-125

A

Ovarian

55
Q

CA-19

A

Pancreatic

56
Q

S-100

A

Melanoma

57
Q

BRCA

A

Breast

58
Q

PSA

A

Prostate

59
Q

CEA

A

Colon

Pancreas

60
Q

AFP

A

Liver

Yolk Sac

61
Q

Rb

A

Ewing’s sarcoma

Retinoblastoma

62
Q

Ret

A

Medullary thyroid cancer

63
Q

Ras

A

Colon

64
Q

bcl-2

A

Follicular lymphoma

65
Q

c-myc

A

Burkitt’s lymphoma

66
Q

l-myc

A

Small cell lung cancer

67
Q

n-myc

A

Neuroblastoma

68
Q

Bombesin

A

Neuroblastoma

69
Q

beta-HCG

A

Choriocarcinoma

70
Q

5HT

A

Carcinoid syndrome

71
Q

bcr-abl

A

CML

72
Q

t(9,22)

A

CML

73
Q

t(14,18)

A

Follicular lymphoma

74
Q

t(8,14)

A

Burkitt’s lymphoma

75
Q

t(15,17)

A

AML/PML

76
Q

t(11,22)

A

Ewing’s sarcoma

77
Q

HLA A3, A6

A

Hemochromatosis

78
Q

HLA B5

A

Behcet’s

79
Q

HLA B13

A

Psoriasis w/o arthritis

80
Q

HLA B27

A

Psoriasis
Ankylosing spondylitis
Reiter’s

81
Q

HLA DR2

A

Goodpasture’s

MS

82
Q

HLA DR3

A

Celiac Sprue

83
Q

HLA DR4

A

Phemphigus vulgaris

84
Q

HLA DR5

A

Pernicious anemia

85
Q

Self mutilation, X-linked disease

A

Lesch Nyhan

HGPRT deficiency

PP Clues (14 decks)

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