Kelainan kromosom (Q90–Q99, 758)
Autosomal | Trisomi | - Sindrom Down
- Sindrom Edwards
- Sindrom Patau
- Trisomi 9
- Sindrom Warkany 2
- Sindrom mata kucing/Trisomi 22
- Trisomi 16
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Monosomi/delesi | - Sindrom delesi 1q21.1/Sindrom delesi 1q21.1/Sindrom TAR
- Sindrom Wolf–Hirschhorn
- Sindrom tangisan kucing/Sindrom delesi kromosom 5q
- Sindrom Williams
- Sindrom Jacobsen
- Sindrom Miller–Dieker/Sindrom Smith–Magenis
- Sindrom DiGeorge
- Sindrom delesi distal 22q11.2
- Sindrom delesi 22q13
- Rekaman genomik
- Sindrom Angelman/Sindrom Prader–Willi (15)
- Distal 18q-/Proksimal 18q-
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Pautan X/Y | Monosomi | |
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Trisomi/tetrasomi, kariotipe lainnya/mosaik | - Sindrom Klinefelter (47, XXY)
- Sindrom XXYY (48, XXYY)
- Sindrom XXXY (48, XXXY)
- 49, XXXYY
- 49, XXXXY
- 45, X/46, XY
- 46, XX/46, XY
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Translokasi | Leukemia/limfoma | Limfoid | - Limfoma Burkitt t(8 MYC;14 IGH)
- Limfoma folikuler t(14 IGH;18 BCL2)
- Limfoma sel mantel/Mieloma multipel t(11 CCND1:14 IGH)
- Limfoma sel besar anaplastik t(2 ALK;5 NPM1)
- Leukimia limfoblastik akut
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Mieloid | - Kromosom Philadelphia t(9 ABL; 22 BCR)
- Acute myeloblastic leukemia with maturation t(8 RUNX1T1;21 RUNX1)
- Leukimia promielositik akut t(15 PML,17 RARA)
- Leukimia megakarioblastik akut t(1 RBM15;22 MKL1)
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Lainnya | - Sarkoma Ewing t(11 FLI1; 22 EWS)
- Sarkoma sinovial t(x SYT;18 SSX)
- Dermatofibrosarcoma protuberans t(17 COL1A1;22 PDGFB)
- Liposarkoma miksoid t(12 DDIT3; 16 FUS)
- Desmoplastic small-round-cell tumor t(11 WT1; 22 EWS)
- Rabdomiosarkoma alveolar t(2 PAX3; 13 FOXO1) t (1 PAX7; 13 FOXO1)
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Lainnya | - Sindrom X rapuh
- Disomi uniparental
- Sindrom XX pria/46,XX testicular disorders of sex development
- Kromosom penanda
- Ring chromosome
- 6; 9; 14; 15; 18; 20; 21, 22
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