AAW - Genetic disorders by chromosome

Question 1

3

Answer 1

VHL, RCC

both have 3 letters

Question 2

4

Answer 2

ADPKD (PKD2), achondroplasia, huntington’s

hunting 4 wabbits
elmer fudd is a dwarf
and he is and ADult

Question 3

5

Answer 3

cri-du-chat, FAP

fap with your 5 fingered hand.

cats paw with their five clawed hand

Question 4

6

Answer 4

hemochromatosis

Question 5

7

Answer 5

williams syndrome (“elfin” facies, intellectual disability, hypercalcemia (increased sensitivity to vitamin d), well developed verbal skills, extreme friendliness with strangers, cardiovascular problems)

CF

Question 6

9

Answer 6

friedreich ataxia (CAA repeats) (gene encodes for frataxin (iron binding protein). Leads to impairment in mitochondrial functioning. Degeneration of multiple spinal cord tracts leads to muscle weakness and loss of DTRs, vibratory sense, and proprioception.

staggering gait, frequent falling, nystagmus, dysarthria, pes cavus, hammer toes, hypertrophic cardiomyopathy. Presents in childhood with kyphoscoliosis

Question 7

11

Answer 7

Wilm tumor

beta globin gene defects (sickle cell, beta-thalassemia)

Question 8

13

Answer 8

Patau syndrome
wilson disease
retinoblastoma
BRCA2

Question 9

15

Answer 9

prader-willi, angelman, marfan

Question 10

16

Answer 10

ADPKD (PKD1), alpha globin gene defects (alpha thalassemia)

when you turn 16, you become a Dominant Alpha adult with cystic kidneys

Question 11

17

Answer 11

Neurofibromatosis type 1, BRCA1

Question 12

18

Answer 12

Edward syndrome

Question 13

21

Answer 13

Down syndrome

Question 14

22

Answer 14

Neurofibromatosis type 2, DiGeorge syndrome (22q11)

Question 15

x

Answer 15

fragile x, x-linked agammaglobulinemia (aka bruton), klinefelter (XXY)