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Definition
| mutation in NF1 tumor-suppressor gene; chr 17 (AD) |
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| mutation in NF2 tumor suppressor gene; chr 22 (AD) |
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mutation of fibrillin gene on chr 15 (AD) charac by: - skeletal abnormalities (tall build c hyperextensible joints)
- subluxation of lens
- cardiovascular defects (cystic medial necrosis, dissecting aortic aneurysm, ASD, aortic dilatation and insufficiency)
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Term
| von Hippel-Lindau disease |
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Definition
| mutation in tumor-suppressor gene on chr 3 (AD) |
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Definition
3-nucleotide deletion in CFTR chloride channel gene on chr 7 |
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Definition
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Definition
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| terminal or interstitial deletion of 5p |
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Definition
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Definition
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Definition
deletion of 15q11-13 (mother copy) "happy puppet" syndrome charac by: - always smiling but lacks speech
- hyperactive, hypotonic
- mental retardation, seizures
- dysmorphic facial features
- ataxic, puppet-like gait
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Term
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Definition
deletion of 15q11-13 (father copy) charac by: - short stature and obese with small hands and feet
- dysmorphic facial features
- hyperphagia
- mental retardation
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Term
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Definition
chronic myelogenous leukemia t(9;22) - philadelphia chromosome faulty signal tranduction protein (bcr-abl fusion protein with tyr kinase activity) |
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Definition
| mutation of RB1 tumor-suppressor gene on chr 13 |
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Term
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Definition
t(8;14) - faulty nuclear regulatory protein c-myc gene moves next to heavy-chain Ig gene charac by: * "starry sky" appearance * assoc c EBV * jaw lesion in endemic form in Africa * pelvis or abdomen in sporadic form |
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Term
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Definition
t(11;14) - faulty cell cycle regulatory protein poor prognosis, CD5+ |
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Term
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Definition
| BRCA1 - chr 17; BRCA2 - chr 13 |
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Term
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Definition
| unstable CAG trinucleotide repeat on gene in chr 4 - AD |
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Definition
5-10% cases hereditary,early onset; AD chr 21: amyloid precursor protein gene chr 14: presenilin-1 gene chr 1: presenilin-2 gene chr 19: apolipoprotein E |
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Term
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Definition
t(11;22) characteric "onion-skin" appearance in bone anaplastic small blue cell malignant tumor |
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Term
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Definition
| AR, substition of valine for glutamic acid at pos 6 of beta chain |
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Term
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Definition
small cleaved (B-cell) cancer non-hodgkins lymphoma t(14;18) bcl-2 expression (disregulated apoptosis) difficult to cure indolent course |
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Term
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Definition
t(15;17) * + Auer rod (peroxidase-positive cytoplasmic inclusions in granulocytes and myeloblasts) * myeloblasts present tx can release auer rod -> DIC |
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Term
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Definition
mutation of PTEN (tumor suppressor gene)
10q23.3
triad of breast cancer, thyroid cancer, and endometrial cancer starts with papular mucous membrane lesion ("cobblestone" appearance) |
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Term
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Definition
AD form of dwarfism abnl cartilage synthesis mutation of FGFR3 (receptor) |
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