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31 Cards in this Set
- Front
- Back
- 3rd side (hint)
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45XO
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Turner's syndrome
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47XXY
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Klinefelter's syndrome
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Oral finding of Edward syndrome
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Micrognathia
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Defective collagen, hypermobile joints
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Ehler-Danlos syndrome
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Defective fibrillin type 1
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Marfan syndrome
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Patau syndrome has extra copy of chromosome number?
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13
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Edward syndrome has extra copy of chromosome number
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18
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Deficient enzyme for Gaucher's disease
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Glucocerebroside
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Deficient enzyme kn Tay-sachs
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Hexosaminidase
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Nieman pick deficient enzyme
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Sphingomyelinase
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One of the most important causes of amenorrhea
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Turner's syndrome
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Enumerate glycogen storage diseases types I-VII
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Von gierke
Pompe's disease Cori's disease Andersen's disease or branched glycogenesis McArdle disease Her's Tarui's |
VP CAM HT
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Areas of demyelinazation
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Plaques
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Most common cause of dementia
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Alzheimer's disease
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Most common demyelinating disease
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MS
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Histo finding of Lewy bodies
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Parkinson's disease
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Loss of intellectual functions
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Dementia
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Part of the brain affected by alzheimer's disease
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Hippocampos
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Degeneration of neurons in the basal ganglia
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Parkinson's disease
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Irreg spasmodic involuntary control of the limbs or facial muscles
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Huntington's disease
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Histo finding of amyloid plaques and neurofibrillary triangles
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Alzheimer's disease
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Degeneration of striatal neurons affecting cortical and basal ganglia
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Huntington'a disease
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Most commonly affected nerve in multiple sclerosis
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Optic nerve
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Other name for amyotrophic lateral sclerosis
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Lou-gehrig disease
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No barr body, webbed neck, sterile, no mental retardation
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Turner's syndrome
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Failure of first and second branchial arches to develop
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Treacher collins syndrome
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Flat face
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Pierre-robins syndrome
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Oral finding of cleidocranial dysostosis
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Impacted supernumerary teeth
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Commonly seen in pt with Stickler's syndrome
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Pierre robin's syndrome
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Rapid degeneration of ant motor neurons
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ALS
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Degeneration of neurons in the cerebral cortex
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Alzheimer's disease
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