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PPClues > Genetics > Flashcards

Genetics Flashcards

1
Q

What is the typical incidence of rare things?

A

1-3%

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2
Q

What is the typical incidence with 1 risk factor?

A

10%

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3
Q

What is the typical incidence with 2 risk factors?

A

50%

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4
Q

What is the typical incidence with 3 risk factors?

A

90%

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5
Q

What does Autosomal Dominant usually indicate?

A

Structural problems, 50% chance of passing it on

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6
Q

What does Autosomal Recessive mean?

A

Enzyme deficiency, 1/4 get it, 2/3 carry it

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7
Q

What are the X linked recessive diseases?

A
  1. Hunters
  2. Lesch Nyhann
  3. G6PD
  4. CGD
  5. Wiscott-Aldrididge
  6. Hemophilia A and B
  7. Duschenne Muscular Dystrophy
  8. Fabry’s
  9. Adrenoleukodystrophy
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8
Q

Where did X liked recessive diseases came from?

A

From maternal uncle or grandpa

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9
Q

What are the X linked dominant diseases?

A

Na-resistant Rickets (kidney leaks phosphorus) waddling gait

Pseudohypoparathyroidism: sausage digits, osteodystrophy

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10
Q

Where does the X linked dominant diseases come from?

A

Dad-> Daughter

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11
Q

What are the Mitochondrial diseases?

A

Leber’s: atrophy of optic nerve

Leigh’s: subacute necrotizing encephalomyelopathy

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12
Q

Where did the mitochondrial diseases come from?

A

Mom-> all kids

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13
Q

What do we stop CPR after 20-30 mins?

A

The brain has irreversible cell injury

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14
Q

What do we only 6hr to use t-PA?

A

The body has irreversible cell injury

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15
Q

What is Turner’s?

A

(X,O), web neck, cystic hygroma, shield chest, coarctation of the aorta, rib notching

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16
Q

What is Klinefelter’s?

A

(47, XXY), tall, gynecomastia, infertility, decreased testosterone

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17
Q

What is XXX syndrome?

A

(47, XXX), normal female with two Barr bodies

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18
Q

What is XXY syndrome?

A

(47, XXY), tall aggressive male

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19
Q

What is Trisomy 13?

A

Patau’s, polydactily, high arched palate, pee problem, holoprosencephaly

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20
Q

What is Trisomy 18?

A

Edward’s rocker bottom feet, clenched fist.

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21
Q

What is Trisomy 21?

A

Down’s, simian crease, wide 1st and 2nd toes, macroglossia, mongolian slanted eyes, brushfield spots, retardation, Defect in the heart heart cushioning, high risk of alzheimer’s, double bubble sign on X-Ray (duodenal atresia).

22
Q

What disease has dinucleotide repeat?

A

HNPCC

23
Q

What disease has trinucleotide disease?

A

Huntington’s, Fragile X, Myotonic Dystrophy, Frederick Ataxia

24
Q

What is Angelman’s?

A

Happy puppet syndrome, ataxia, Mom’s fault

25
Q

What is Prader Willi?

A

Hyperphagia, hypogonadism, almond shaped eyes

26
Q

What is Kallman’s?

A

Anosmia, small testes

27
Q

What is Anaplasia?

A

Regress to infantile state

28
Q

What is atrophy?

A

Decreased organ or tissue size

29
Q

What is desmoplasia?

A

Cell wraps itself w/ dense fibrous tissue

30
Q

What is dysplasia “carcinoma in situ”?

A

Lose contact inhibition (cells crawl on top of each other)

31
Q

What is Hyperplasia?

A

Increased cell number.

32
Q

What is Hypertophy?

A

Increased cell size

33
Q

What is Metaplasia?

A

Change from one adult cell type to another

34
Q

What is Neoplasia?

A

New growth

35
Q

What is benign?

A

Well circumscribed, freely movable, maintain capsule, obeys physiology, hurts by compression, slow growing

36
Q

What is malignant?

A

Not well circumscribed, fixed, not 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

What are the fastest killing cancers?

A

Pancreatic and esphageal

38
Q

What does Adeno- tell you?

A

Glandular

39
Q

What does Leiomyo- tell you?

A

Smooth muscle

40
Q

What does Rhabdomyo- tell you?

A

Skeletal muscle

41
Q

What does Hemangio- tell you?

A

Blood vessel

42
Q

What does Lipo- tell you?

A

Fat

43
Q

What does Osteo- tell you?

A

Bone

44
Q

What does Fibro- tell you?

A

Fibrous tissue

45
Q

What does -oma tell you?

A

Tumor

46
Q

What does carcinoma tell you?

A

Cancer

47
Q

What does sarcoma tell you?

A

Connective tissue cancer

48
Q

What is Hamartoma?

A

Abnormal growth of normal tissue

49
Q

What is Choristoma?

A

Normal tissue in the wrong place

50
Q

What is the most common anterior mediastinum tumor?

A

Thymoma

51
Q

What is the most common middle mediastinum tumor?

A

Pericardial

PPClues (8 decks)

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