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68 Cards in this Set
- Front
- Back
- 3rd side (hint)
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Meningioma
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Chr 22 |
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NF1
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Chr17 |
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NF2 |
Chr 22 |
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VHL |
Chr 3 |
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Tuberous Sclerosis |
TSC2: Chr 16 |
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p53 gene
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Chr 17 |
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Rb gene |
Chr 13 |
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Li-Fraumeni |
Chr 17 (p53) |
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FAP |
Chr 5 (APC) |
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Lynch Syndrome (HNPCC)
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MSI (MLH1, MSH2, MSH6, PMS2) |
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Beckwith-Weideman |
Chr 11 |
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BRCA 1 |
Chr 17 |
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BRCA 2 |
Chr 13 |
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PKD 1 |
Chr 4 |
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PKD 2 |
Chr 9 |
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Conventional RCC |
Chr 3 deletion |
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Papillary RCC
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Trisomy 7 and 17 |
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Carcinoid Tumor |
11q deletion |
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Germ cell tumors |
Isochromosome 12p |
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Down's Syndrome |
Trisomy 21 |
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Patau Syndrome |
Trisomy 13 |
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Edward's Syndrome |
Trisomy 18 |
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Most common trisomy |
Chr 16 (incompatible with life) |
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Kleinfelter syndrome |
47 XXY |
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Turner Syndrome |
45 XO |
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Criu du chat |
Deletion 5p |
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DiGeorge |
Microdeletion 22 |
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Prader Willi/Angelman |
Deletion 15 |
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Fragile X |
Trinucleotide repeat in FMR-1 gene CGG on X chromosome |
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Chr 17 |
NF1, p53, BRCA 1 |
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Chr 13 |
Rb, BRCA2 |
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Chr 16 |
TSC2, PKD1 |
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CML
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T(9;22) BCR-ABL |
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Burkitt's |
Also (8;2), (8;22) |
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AML M3 (APML) |
T(15;17) RARA |
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AML therapy related (alk ag) |
Del(5q), del(7q) |
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AML therapy related (topoisom inh) |
11q23 MLL |
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AML |
T(8;21) AML/ETO, inv(16), 11q23 MLL |
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AML good prognosis
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T(8;21) AML/ETO, inv(16), 11q23 MLL, t(15;17) |
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ALL good prognosis |
T(12;21) TEL/AML1, hyperdiploid 51-65 chr |
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ALL bad prognosis |
T(9;22) BCR-ABL, 11q23 MLL, Hypodiploidy |
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CLL worse prognosis
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Trisomy 12 (correlates with unmuted Ig variable region) |
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Follicular Lymphoma
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T(14;18) bcl-1/IgH |
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MALT with resistance to H pylori eradication |
T(11;18) |
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MALT common |
Trisomy 3 |
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MCL |
T(11;14) bcl-1/IgH (Cyclin D1 overexpression) |
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MM |
Monosomy 13, complex karyotypes |
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ALCL |
T(2;5) ALK, t(1;2), t(2;3) |
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DLBCL |
T(3;14) bcl-6/IgH |
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Synovial Sarcoma
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t(X;18), SSX1 or 2/SYT
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Alveolar soft part sarcoma
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t(X;17), der(17) |
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Clear cell sarcoma/melanoma of soft parts |
t(11;22) EWS
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Alveolar rhabdomyosarcoma |
t(2;13), t(1;13)
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Embryonal rhabdomyosarcoma |
del(11p15) |
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Ewing's/PNET |
t(11;22) EWS/Fli-1, t(21;22) EWS |
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DSRCT |
t(11;22) |
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Extraskeletal myxoid chondrosarcoma |
t(9;22) |
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Infantile/congenital fibrosarcoma |
t(12;15) |
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Myxoid/round cell liposarcoma |
t(12;16) |
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Wilm's Tumor |
Chr 11 abnormalities, trisomy 1q |
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Mesoblastic nephroma |
t(12;15) |
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Huntington's
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CAG trinucleotide repeat |
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Fragile X
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Myotonic dystrophy
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CTG trinucleotide repeat |
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Spinocerebellar ataxia |
CAG trinucleotide repeat |
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Freidrich's ataxia |
GAA trinucleotide repeat
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Nodular fasciitis |
t(17;22) MYH9-UPS6 |
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