Genetics

Question 1

What is the typical incidence of rare things?

Answer 1

1-3%

Question 2

What is the typical incidence with 1 risk factor?

Answer 2

10%

Question 3

What is the typical incidence with 2 risk factors?

Answer 3

50%

Question 4

What is the typical incidence with 3 risk factors?

Answer 4

90%

Question 5

What does Autosomal Dominant usually indicate?

Answer 5

Structural problems, 50% chance of passing it on

Question 6

What does Autosomal Recessive mean?

Answer 6

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

Question 7

What are the X linked recessive diseases?

Answer 7

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

Question 8

Where did X liked recessive diseases came from?

Answer 8

From maternal uncle or grandpa

Question 9

What are the X linked dominant diseases?

Answer 9

Na-resistant Rickets (kidney leaks phosphorus) waddling gait

Pseudohypoparathyroidism: sausage digits, osteodystrophy

Question 10

Where does the X linked dominant diseases come from?

Answer 10

Dad-> Daughter

Question 11

What are the Mitochondrial diseases?

Answer 11

Leber’s: atrophy of optic nerve

Leigh’s: subacute necrotizing encephalomyelopathy

Question 12

Where did the mitochondrial diseases come from?

Answer 12

Mom-> all kids

Question 13

What do we stop CPR after 20-30 mins?

Answer 13

The brain has irreversible cell injury

Question 14

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

Answer 14

The body has irreversible cell injury

Question 15

What is Turner’s?

Answer 15

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

Question 16

What is Klinefelter’s?

Answer 16

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

Question 17

What is XXX syndrome?

Answer 17

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

Question 18

What is XXY syndrome?

Answer 18

(47, XXY), tall aggressive male

Question 19

What is Trisomy 13?

Answer 19

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

Question 20

What is Trisomy 18?

Answer 20

Edward’s rocker bottom feet, clenched fist.

Question 21

What is Trisomy 21?

Answer 21

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).

Question 22

What disease has dinucleotide repeat?

Answer 22

HNPCC

Question 23

What disease has trinucleotide disease?

Answer 23

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

Question 24

What is Angelman’s?

Answer 24

Happy puppet syndrome, ataxia, Mom’s fault

Question 25

What is Prader Willi?

Answer 25

Hyperphagia, hypogonadism, almond shaped eyes

Question 26

What is Kallman's?

Answer 26

Anosmia, small testes

Question 27

What is Anaplasia?

Answer 27

Regress to infantile state

Question 28

What is atrophy?

Answer 28

Decreased organ or tissue size

Question 29

What is desmoplasia?

Answer 29

Cell wraps itself w/ dense fibrous tissue

Question 30

What is dysplasia "carcinoma in situ"?

Answer 30

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

Question 31

What is Hyperplasia?

Answer 31

Increased cell number.

Question 32

What is Hypertophy?

Answer 32

Increased cell size

Question 33

What is Metaplasia?

Answer 33

Change from one adult cell type to another

Question 34

What is Neoplasia?

Answer 34

New growth

Question 35

What is benign?

Answer 35

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

Question 36

What is malignant?

Answer 36

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). `

Question 37

What are the fastest killing cancers?

Answer 37

Pancreatic and esphageal

Question 38

What does Adeno- tell you?

Answer 38

Glandular

Question 39

What does Leiomyo- tell you?

Answer 39

Smooth muscle

Question 40

What does Rhabdomyo- tell you?

Answer 40

Skeletal muscle

Question 41

What does Hemangio- tell you?

Answer 41

Blood vessel

Question 42

What does Lipo- tell you?

Answer 42

Fat

Question 43

What does Osteo- tell you?

Answer 43

Bone

Question 44

What does Fibro- tell you?

Answer 44

Fibrous tissue

Question 45

What does -oma tell you?

Answer 45

Tumor

Question 46

What does carcinoma tell you?

Answer 46

Cancer

Question 47

What does sarcoma tell you?

Answer 47

Connective tissue cancer

Question 48

What is Hamartoma?

Answer 48

Abnormal growth of normal tissue

Question 49

What is Choristoma?

Answer 49

Normal tissue in the wrong place

Question 50

What is the most common anterior mediastinum tumor?

Answer 50

Thymoma

Question 51

What is the most common middle mediastinum tumor?

Answer 51

Pericardial