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Integrative Week Two > Genetics > Flashcards

Flashcards in Genetics Deck (17):
1

Niemann-Pick

cherry red spots + HSM
acid spingomyelinase

2

Tay Sachs

cherry red spots
hexosaminidase A

3

Fabry

galactosidase
progressive renal failure

4

Krabbe's

globoid cell leukodystrophy
AR
seizures, limb stiffness

5

Metachromatic Leukodystrophy

airysulfatase A

6

Hurler's

gargoylism
corneal clouding

7

Hunter's

aggressive, clear vision

8

Tuberous Sclerosis

hypopigmented lesions
adenoma sebaceum
seizures

9

NF 1

chromosome 17
hyperpigmented lesions (cafe au lait spots)
Lisch nodules
pheochromocytomas

10

Sturge Weber

port wine
heimparesis, siezures
ipsilateral leptomeningeal angioma

11

von-Hippel-Lindau

chromosome 3
cavernous hemangiomas
bilterall RCC
retinal hemangioblastoma

12

Duchenne's

quick onset
fibrofatty calf muscle replacement
kyphoscoliosis
Gower's maneuver

13

Becker's

longer onset
less severe than Ducheenne's

14

Myotonic dystrophy

hatchet facies
frontal balding
abnormally slow muscle relaxation
cataracts
gonadal atrophy

15

von Hippel Lindau at risk for

pheochromocytoma

16

Friedreich's ataxia transmission

AR repeat disorder - GAA

17

Friedreich's ataxia

kyphoscoliosis, staggering gait
frequent falling, nystagmus
dysarthria, pes cavus
hypertrophic cardiomyopathy