قالب:اضطرابات صبغية

(تم التحويل من قالب:Pigmentation disorders)

باثولوجيا: اضطرابات صبغية (Q90-Q99 • 758)

Trisomies	Down syndrome (21) • متلازمة إدوارد (18) • Patau syndrome (13) Trisomy 9 • Warkany syndrome 2 (8) • Trisomy 22/Cat eye syndrome (22) • Trisomy 16
Monosomies/deletions	Wolf-Hirschhorn syndrome (4) • Cri du chat/Chromosome 5q deletion syndrome (5) • Williams syndrome (7) • Jacobsen syndrome (11) • Miller-Dieker syndrome/Smith-Magenis syndrome (17) • Di George's syndrome (22) genomic imprinting (Angelman syndrome/Prader–Willi syndrome (15))

لها علاقة باكس/واي

Monosomy	متلازمة ترنر (XO)
Trisomy/tetrasomy, other karyotypes/mosaics	Klinefelter's syndrome (47,XXY) • 48,XXYY • 49,XXXXY Triple X syndrome (47,XXX) • 48,XXXX • 49,XXXXX 47,XYY

Leukemia/lymphoma

Lymphoid	Burkitt's lymphoma t(8 MYC;14 IGH) • Follicular lymphoma t(14 IGH;18 BCL2) • Mantle cell lymphoma/Multiple myeloma t(11 CCND1:14 IGH) • Anaplastic large cell lymphoma t(2 ALK;5 NPM1) • Acute lymphoblastic leukemia
Myeloid	Philadelphia chromosome t(9 ABL; 22 BCR) • Acute myeloblastic leukemia with maturation t(8 RUNX1T1;21 RUNX1) • Acute promyelocytic leukemia t(15 PML,17 RARA) • Acute megakaryoblastic leukemia t(1 RBM15;22 MKL1)

Other

Ewing's sarcoma t(11 FLI1; 22 EWS) • Synovial sarcoma t(x SYT;18 SSX) • Dermatofibrosarcoma protuberans t(17 COL1A1;22 PDGFB) • Myxoid liposarcoma t(12 DDIT3; 16 FUS) • Desmoplastic small round cell tumor t(11 WT1; 22 EWS) • Alveolar rhabdomyosarcoma t(2 PAX3; 13 FOXO1) t (1 PAX7; 13 FOXO1)

Gonadal dysgenesis

Mixed gonadal dysgenesis • XX gonadal dysgenesis

Other

Fragile X syndrome • Uniparental disomy

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