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14 Cards in this Set
- Front
- Back
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a partial deletion of 5p will lead to
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cri di chat
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a partial deletion of 13q will lead to
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retinoblastoma
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prader-willi syndrome is the ______deletion of chromosome 15
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paternal
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angelman syndrome is the ____deletion of chromosome 15
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maternal
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in Prader Willi syndrome the patient will present with
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hypotonicity as a baby
obesity MR |
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in angel man syndrome the pt will present with
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smiling, laughter
wide gait/ataxia, MR |
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HLA A3 is associated with
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hemachromatosis
A 3-iron |
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what is associated with HLA B27?
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anklyosing spondlyitis
reactive arthritis psoriatic arthritis |
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a pt presents with bronze skin, diabetes, and cirrhosis....what do they have? what HLA type will they have?
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hemachromatosis, HLA A3
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what is the triad of ankylosing spondylitis? what HLA type will they have?
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HLA B27, sacroilitis, bamboo spine, uveitis
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what is the triad of reactive arthritis? what HLA type will they have?
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conjuncivitis, urerethritis, arthrtitis, HLA B27
"can't see, can't pee, can't climb a tree" |
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what is HLA D2 associated with ?
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nacrolepsy
MS DM I |
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what is HLA DR3 associated with?
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SLE
DM1 Celiac's disease ALL are autoimmune! |
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what is HLA DR4 associated with?
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RA
Juv. RA |
