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Chromosome 5q deletion syndrome

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Raza, A; Reeves, J. A.; Feldman, E. J.; Dewald, G. W.; Bennett, J. M.; Deeg, H. J.; Dreisbach, L; Schiffer, C. A.; Stone, R. M.; Greenberg, P. L.; Curtin, P. T.; Klimek, V. M.; Shammo, J. M.; Thomas, D; Knight, R. D.; Schmidt, M; Wride, K; Zeldis, J. B.; List, A. F. (2008).
2182: 808: 694: 1662: 766: 2103: 1813: 1766: 1667: 217: 1591: 1962: 579:"Phase 2 study of lenalidomide in transfusion-dependent, low-risk, and intermediate-1 risk myelodysplastic syndromes with karyotypes other than deletion 5q" 2315: 1672: 1335: 275:(MDS) associated with chromosome 5q deletion with or without additional cytogenetic abnormalities. There are several possible mechanisms that link the 618:
Voutsadakis IA; Cairoli A (2012). "A critical review of the molecular pathophysiology of lenalidomide sensitivity in 5q – myelodysplastic syndromes".
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Starczynowski DT; Kuchenbauer F; Argiropoulos B (January 2010). "Identification of miR-145 and miR-146a as mediators of the 5q- syndrome phenotype".
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Lazjuk GI; Lurie IW; Kirillova IA; et al. (August 1985). "Partial trisomy 5q and partial monosomy 5q within the same family".
1823: 1584: 1021: 2310: 1999: 1828: 1420: 1363: 256:. They are more numerous than usual, small and mononuclear. There may be accompanying erythroid hypoplasia in the bone marrow. 2172: 1414: 1353: 1291: 153:, and an isolated interstitial deletion of chromosome 5. The 5q- syndrome is found predominantly in females of advanced age. 340:
Chapter 8 - Myelodysplastic Syndromes in Hematopathology Morphology, Immunophenotype, Cytogenetics and Molecular Approaches
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5q", though both conditions have been observed in the same family. Diagnosis is achieved through marrow biopsy.
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approved for red blood cell (RBC) transfusion-dependent anemia due to low or intermediate-1 (int-1) risk
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Photomicrograph of bone marrow showing abnormal mononuclear megakaryocytes typical of 5q- syndrome
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is an acquired, hematological disorder characterized by loss of part of the long arm (
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Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
732: 1329: 1325: 1131: 877: 855: 845: 77: 1636: 1170: 1126: 818: 813: 201: 105: 744: 639: 604: 562: 498: 463: 407: 363:"Identification of RPS14 as a 5q- syndrome gene by RNA interference screen" 537:"Lenalidomide in the myelodysplastic syndrome with chromosome 5q deletion" 316: 2121: 1862: 1713: 1286: 1236: 1232: 1104: 783: 553: 536: 194: 150: 46: 445: 389: 108:
cells. This chromosome abnormality is most commonly associated with the
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Adult type of generalized eruption of cutaneous mastocytosis
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Naeim, Faramarz; Rao, P. Nagesh; W. Grody, Wayne (2008).
676: 2262: 2235: 2228: 2206: 2161: 2129: 2120: 2065: 2043: 2021: 2012: 1979: 1970: 1961: 1927: 1905: 1896: 1870: 1861: 1841: 1810: 1788: 1779: 1748: 1721: 1712: 1686: 1644: 1635: 1626: 1611: 1492: 1385: 1314: 1244: 1231: 1222: 1121: 1103: 1089: 898: 791: 782: 680: 165:in the deleted region appear to play a role in the 71: 40: 35: 279:molecular lesions with lenalidomide sensitivity. 2104:Refractory cytopenia with multilineage dysplasia 1767:Accelerated phase chronic myelogenous leukemia 1585: 1514:46,XX testicular disorders of sex development 760: 177:plays a central role, and contributes to the 8: 535:List A; Dewald G; Bennett J (October 2006). 423: 421: 419: 417: 189:effects. Other genes at this region include 1336:Acute myeloblastic leukemia with maturation 434:Clinical Medicine Insights: Blood Disorders 361:Ebert BL; Pretz J; Bosco J (January 2008). 2232: 2126: 2018: 1976: 1967: 1902: 1867: 1785: 1718: 1641: 1632: 1623: 1592: 1578: 1570: 1241: 1228: 1100: 788: 767: 753: 745: 677: 82: 58: 32: 594: 552: 453: 397: 430:"Ribosomopathies: Mechanisms of disease" 197:, whose deletion is associated with the 115:It should not be confused with "partial 2084:Refractory anemia with excess of blasts 287: 7: 2249:Acute panmyelosis with myelofibrosis 267:has activity in 5q- syndrome and is 252:shows characteristic changes in the 127:The 5q-syndrome is characterized by 2099:Paroxysmal nocturnal hemoglobinuria 1449:Desmoplastic small-round-cell tumor 520:Online Mendelian Inheritance in Man 2316:Autosomal monosomies and deletions 348:10.1016/B978-0-12-370607-2.00008-9 309:10.1111/j.1399-0004.1985.tb00371.x 236:cells causing treatment-resistant 25: 1824:Juvenile myelomonocytic leukemia 1022:22q11.2 distal deletion syndrome 428:Nakhoul H, Ke J, Zhou X (2014). 2089:Chromosome 5q deletion syndrome 2000:Acute megakaryoblastic leukemia 1829:Chronic myelomonocytic leukemia 1740:Myeloid dendritic cell leukemia 1421:Dermatofibrosarcoma protuberans 1364:Acute megakaryoblastic leukemia 1292:Anaplastic large-cell lymphoma 954:Chromosome 5q deletion syndrome 185:-dependent and p53-independent 94:Chromosome 5q deletion syndrome 36:Chromosome 5q deletion syndrome 2173:Diffuse cutaneous mastocytosis 1: 1941:Chronic eosinophilic leukemia 1700:Chronic neutrophilic leukemia 1144:Klinefelter syndrome (47,XXY) 909:1q21.1 copy number variations 2281:Biphenotypic acute leukaemia 2216:Xanthelasmoidal mastocytosis 1350:Acute promyelocytic leukemia 1306:Acute lymphoblastic leukemia 998:17q12 microdeletion syndrome 873:22q11.2 duplication syndrome 851:16p11.2 duplication syndrome 632:10.3109/10428194.2011.623255 596:10.1182/blood-2007-01-068833 1658:Acute myeloblastic leukemia 917:1q21.1 duplication syndrome 804:1q21.1 duplication syndrome 2337: 2178:Erythrodermic mastocytosis 1945:Hypereosinophilic syndrome 246:acute myelogenous leukemia 2321:Syndromes affecting blood 1993:Essential thrombocythemia 1463:Alveolar rhabdomyosarcoma 1198:XYYYY syndrome (49,XYYYY) 1164:XXXXY syndrome (49,XXXXY) 1159:XXXYY syndrome (49,XXXYY) 242:myelodysplastic syndromes 66: 57: 1605:hematological malignancy 938:Wolf–Hirschhorn syndrome 913:1q21.1 deletion syndrome 776:Chromosome abnormalities 273:myelodysplastic syndrome 110:myelodysplastic syndrome 100:, band 5q33.1) of human 1762:Philadelphia chromosome 1322:Philadelphia chromosome 1193:XYYY syndrome (48,XYYY) 1154:XXXY syndrome (48,XXXY) 1149:XXYY syndrome (48,XXYY) 1034:22q13 deletion syndrome 809:2q31.1 microduplication 620:Leukemia & Lymphoma 2311:Rare genetic syndromes 1181:Pentasomy X (49,XXXXX) 1113:Turner syndrome (45,X) 994:Smith–Magenis syndrome 990:Miller–Dieker syndrome 925:1p36 deletion syndrome 232:This syndrome affects 208:seen in 5q- syndrome; 2276:Primary myelofibrosis 2208:Systemic mastocytosis 2153:Systemic mastocytosis 1188:XYY syndrome (47,XYY) 1176:Tetrasomy X (48,XXXX) 1059:Prader–Willi syndrome 524:5q- syndrome - 153550 248:. Examination of the 2198:Solitary mastocytoma 2188:Urticaria pigmentosa 2094:Sideroblastic anemia 1280:Mantle cell lymphoma 950:Cri du chat syndrome 554:10.1056/NEJMoa061292 342:. pp. 129–154. 1266:Follicular lymphoma 446:10.4137/CMBD.S16952 390:10.1038/nature06494 382:2008Natur.451..335E 131:, often a moderate 2143:Mast cell leukemia 2035:Erythroleukemia/M6 1919:Acute eosinophilic 1505:Uniparental disomy 1500:Fragile X syndrome 1435:Myxoid liposarcoma 1287:t(11 CCND1:14 IGH) 1171:Trisomy X (47,XXX) 1049:genomic imprinting 829:Distal trisomy 10q 277:haploinsufficiency 171:Haploinsufficiency 137:erythroblastopenia 2306:Myeloid neoplasia 2293: 2292: 2289: 2288: 2224: 2223: 2193:Mast cell sarcoma 2148:Mast cell sarcoma 2116: 2115: 2112: 2111: 2079:Refractory anemia 2057:Polycythemia vera 2008: 2007: 1957: 1956: 1953: 1952: 1892: 1891: 1857: 1856: 1837: 1836: 1775: 1774: 1708: 1707: 1567: 1566: 1519:Marker chromosome 1488: 1487: 1381: 1380: 1218: 1217: 1085: 1084: 1055:Angelman syndrome 1010:DiGeorge syndrome 978:Jacobsen syndrome 966:Williams syndrome 742: 741: 244:that may lead to 129:macrocytic anemia 91: 90: 30:Medical condition 16:(Redirected from 2328: 2269: 2242: 2233: 2229:Multiple/unknown 2209: 2166: 2136: 2127: 2072: 2050: 2028: 2019: 1986: 1977: 1968: 1934: 1912: 1903: 1884:Acute basophilic 1877: 1868: 1817: 1795: 1786: 1755: 1728: 1719: 1693: 1651: 1642: 1633: 1624: 1594: 1587: 1580: 1571: 1510:XX male syndrome 1407:Synovial sarcoma 1284:Multiple myeloma 1252:Burkitt lymphoma 1242: 1229: 1132:other karyotypes 1101: 883:Cat-eye syndrome 789: 769: 762: 755: 746: 678: 652: 651: 615: 609: 608: 598: 573: 567: 566: 556: 532: 526: 517: 511: 510: 474: 468: 467: 457: 425: 412: 411: 401: 367: 358: 352: 351: 335: 329: 328: 292: 187:tumor suppressor 169:of 5q-syndrome. 87: 86: 62: 33: 21: 2336: 2335: 2331: 2330: 2329: 2327: 2326: 2325: 2296: 2295: 2294: 2285: 2263: 2258: 2254:Myeloid sarcoma 2236: 2220: 2207: 2202: 2162: 2157: 2130: 2108: 2066: 2061: 2044: 2039: 2022: 2004: 1980: 1949: 1928: 1923: 1906: 1888: 1871: 1853: 1833: 1811: 1806: 1789: 1771: 1749: 1744: 1722: 1704: 1687: 1682: 1645: 1616: 1607: 1598: 1568: 1563: 1524:Ring chromosome 1484: 1377: 1310: 1214: 1130: 1117: 1081: 894: 793: 778: 773: 743: 738: 737: 689: 660: 655: 617: 616: 612: 575: 574: 570: 547:(14): 1456–65. 541:N. Engl. J. Med 534: 533: 529: 518: 514: 491:10.1038/nm.2054 479:Nature Medicine 476: 475: 471: 427: 426: 415: 376:(7176): 335–9. 365: 360: 359: 355: 337: 336: 332: 294: 293: 289: 285: 262: 230: 159: 125: 104:in bone marrow 81: 31: 28: 23: 22: 15: 12: 11: 5: 2334: 2332: 2324: 2323: 2318: 2313: 2308: 2298: 2297: 2291: 2290: 2287: 2286: 2284: 2283: 2278: 2272: 2270: 2260: 2259: 2257: 2256: 2251: 2245: 2243: 2230: 2226: 2225: 2222: 2221: 2219: 2218: 2212: 2210: 2204: 2203: 2201: 2200: 2195: 2190: 2185: 2180: 2175: 2169: 2167: 2159: 2158: 2156: 2155: 2150: 2145: 2139: 2137: 2124: 2118: 2117: 2114: 2113: 2110: 2109: 2107: 2106: 2101: 2096: 2091: 2086: 2081: 2075: 2073: 2063: 2062: 2060: 2059: 2053: 2051: 2041: 2040: 2038: 2037: 2031: 2029: 2016: 2010: 2009: 2006: 2005: 2003: 2002: 1996: 1995: 1989: 1987: 1974: 1965: 1959: 1958: 1955: 1954: 1951: 1950: 1948: 1947: 1937: 1935: 1925: 1924: 1922: 1921: 1915: 1913: 1900: 1894: 1893: 1890: 1889: 1887: 1886: 1880: 1878: 1865: 1859: 1858: 1855: 1854: 1852: 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1007: 1006: 1005: 987: 986: 985: 975: 974: 973: 963: 962: 961: 947: 946: 945: 935: 934: 933: 904: 902: 896: 895: 893: 892: 891: 890: 880: 875: 870: 869: 868: 858: 853: 848: 843: 842: 841: 834:Patau syndrome 831: 826: 821: 816: 811: 806: 800: 798: 786: 780: 779: 774: 772: 771: 764: 757: 749: 740: 739: 736: 735: 724: 713: 702: 690: 685: 684: 682: 681:Classification 675: 674: 659: 658:External links 656: 654: 653: 610: 568: 527: 512: 469: 413: 353: 330: 286: 284: 281: 261: 258: 254:megakaryocytes 229: 226: 206:thrombocytosis 199:megakaryocytic 158: 155: 133:thrombocytosis 124: 121: 89: 88: 75: 69: 68: 64: 63: 55: 54: 45:Chromosome 5q 42: 38: 37: 29: 26: 24: 14: 13: 10: 9: 6: 4: 3: 2: 2333: 2322: 2319: 2317: 2314: 2312: 2309: 2307: 2304: 2303: 2301: 2282: 2279: 2277: 2274: 2273: 2271: 2268: 2267: 2261: 2255: 2252: 2250: 2247: 2246: 2244: 2241: 2240: 2234: 2231: 2227: 2217: 2214: 2213: 2211: 2205: 2199: 2196: 2194: 2191: 2189: 2186: 2184: 2181: 2179: 2176: 2174: 2171: 2170: 2168: 2165: 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1096: 1092: 1088: 1078: 1077:Proximal 18q- 1074: 1071: 1070: 1064: 1060: 1056: 1053: 1052: 1051: 1050: 1046: 1045: 1040: 1037: 1036: 1035: 1032: 1028: 1025: 1024: 1023: 1020: 1016: 1013: 1012: 1011: 1008: 1004: 1001: 1000: 999: 995: 991: 988: 984: 981: 980: 979: 976: 972: 969: 968: 967: 964: 960: 957: 956: 955: 951: 948: 944: 941: 940: 939: 936: 932: 929: 928: 926: 922: 918: 914: 910: 906: 905: 903: 901: 897: 889: 886: 885: 884: 881: 879: 876: 874: 871: 867: 864: 863: 862: 861:Down syndrome 859: 857: 854: 852: 849: 847: 844: 840: 837: 836: 835: 832: 830: 827: 825: 822: 820: 817: 815: 812: 810: 807: 805: 802: 801: 799: 797: 792:Duplications, 790: 787: 785: 781: 777: 770: 765: 763: 758: 756: 751: 750: 747: 734: 730: 729: 725: 723: 719: 718: 714: 712: 708: 707: 703: 701: 697: 696: 692: 691: 688: 683: 679: 673: 672:Rare Diseases 670:'s Office of 669: 665: 662: 661: 657: 649: 645: 641: 637: 633: 629: 626:(5): 779–88. 625: 621: 614: 611: 606: 602: 597: 592: 588: 584: 580: 572: 569: 564: 560: 555: 550: 546: 542: 538: 531: 528: 525: 521: 516: 513: 508: 504: 500: 496: 492: 488: 484: 480: 473: 470: 465: 461: 456: 451: 447: 443: 439: 435: 431: 424: 422: 420: 418: 414: 409: 405: 400: 395: 391: 387: 383: 379: 375: 371: 364: 357: 354: 349: 345: 341: 334: 331: 326: 322: 318: 314: 310: 306: 302: 298: 291: 288: 282: 280: 278: 274: 270: 266: 259: 257: 255: 251: 247: 243: 239: 235: 227: 225: 223: 219: 215: 211: 207: 203: 200: 196: 192: 188: 184: 180: 176: 172: 168: 164: 156: 154: 152: 149: 145: 142: 141:megakaryocyte 138: 134: 130: 122: 120: 118: 113: 111: 107: 103: 99: 95: 85: 79: 76: 74: 70: 65: 61: 56: 53: 49: 48: 43: 39: 34: 27:Human disease 19: 2264: 2237: 2164:Mastocytosis 2131: 2088: 2067: 2045: 2023: 1981: 1929: 1907: 1872: 1812: 1790: 1750: 1723: 1688: 1646: 1619:granulocytes 1047: 953: 921:TAR syndrome 824:Tetrasomy 9p 726: 715: 704: 693: 664:5q- syndrome 623: 619: 613: 589:(1): 86–93. 586: 582: 571: 544: 540: 530: 515: 485:(1): 49–58. 482: 478: 472: 437: 433: 373: 369: 356: 339: 333: 303:(2): 122–9. 300: 296: 290: 265:Lenalidomide 263: 231: 167:pathogenesis 160: 151:hypolobation 126: 123:Presentation 114: 102:chromosome 5 93: 92: 52:5q- syndrome 51: 44: 2133:Mastocytoma 1210:46,XX/46,XY 1127:tetrasomies 1073:Distal 18q- 297:Clin. Genet 250:bone marrow 234:bone marrow 144:hyperplasia 41:Other names 2300:Categories 1617:and other 1205:45,X/46,XY 1105:Monosomies 878:Trisomy 22 856:Trisomy 18 846:Trisomy 16 794:including 728:DiseasesDB 283:References 78:Hematology 1637:Myelocyte 1603:-related 1123:Trisomies 900:Deletions 819:Trisomy 9 814:Trisomy 8 796:trisomies 784:Autosomal 260:Treatment 228:Histology 202:dysplasia 181:via both 106:myelocyte 73:Specialty 2122:CFU-Mast 1863:CFU-Baso 1714:Monocyte 1245:Lymphoid 1237:lymphoma 1233:Leukemia 648:38251104 640:21955212 605:17893227 563:17021321 522:(OMIM): 499:19898489 464:25512719 440:: 7–16. 408:18202658 325:33815922 195:miR-146a 161:Several 47:monosomy 1972:CFU-Meg 1898:CFU-Eos 1735:AMoL/M5 1601:Myeloid 1473:) t (1 1340:RUNX1T1 1315:Myeloid 1136:mosaics 722:C535323 700:M9986/3 507:7987486 455:4251057 399:3771855 378:Bibcode 317:4042393 191:miR-145 148:nuclear 117:trisomy 1678:APL/M3 1628:CFU-GM 1613:CFU-GM 1425:COL1A1 1097:linked 711:153550 646:  638:  603:  561:  505:  497:  462:  452:  406:  396:  370:Nature 323:  315:  238:anemia 222:CDC25C 220:, and 218:CTNNA1 179:anemia 157:Causes 80:  2014:CFU-E 1842:Other 1814:MD-MP 1493:Other 1479:FOXO1 1477:; 13 1471:FOXO1 1469:; 13 1455:; 22 1451:t(11 1441:; 16 1439:DDIT3 1437:t(12 1429:PDGFB 1423:t(17 1399:; 22 1395:t(11 1386:Other 1368:RBM15 1352:t(15 1344:RUNX1 1328:; 22 1268:t(14 733:34573 695:ICD-O 644:S2CID 583:Blood 503:S2CID 366:(PDF) 321:S2CID 210:SPARC 175:RPS14 163:genes 146:with 98:q arm 1475:PAX7 1467:PAX3 1465:t(2 1427:;22 1413:;18 1409:t(x 1397:FLI1 1372:MKL1 1370:;22 1366:t(1 1358:RARA 1356:,17 1342:;21 1338:t(8 1324:t(9 1300:NPM1 1294:t(2 1274:BCL2 1272:;18 1258:;14 1254:t(8 717:MeSH 706:OMIM 636:PMID 601:PMID 559:PMID 495:PMID 460:PMID 404:PMID 313:PMID 240:and 214:EGR1 204:and 193:and 2239:AML 2025:AML 1963:MEP 1909:AML 1874:AML 1792:AML 1752:CML 1725:AML 1648:AML 1457:EWS 1453:WT1 1443:FUS 1415:SSX 1411:SYT 1401:EWS 1354:PML 1330:BCR 1326:ABL 1298:;5 1296:ALK 1270:IGH 1260:IGH 1256:MYC 668:NIH 666:at 628:doi 591:doi 587:111 549:doi 545:355 487:doi 450:PMC 442:doi 394:PMC 386:doi 374:451 344:doi 305:doi 269:FDA 183:p53 173:of 2302:: 2266:MP 2069:MD 2047:MP 1983:MP 1931:MP 1802:M4 1690:MP 1673:M2 1668:M1 1663:M0 1557:22 1555:, 1553:21 1551:; 1549:20 1547:; 1545:18 1543:; 1541:15 1539:; 1537:14 1535:; 1531:; 1063:15 1039:22 1027:22 1015:22 1003:17 983:11 927:) 888:22 866:21 839:13 731:: 720:: 709:: 698:: 642:. 634:. 624:53 622:. 599:. 585:. 581:. 557:. 543:. 539:. 501:. 493:. 483:16 481:. 458:. 448:. 436:. 432:. 416:^ 402:. 392:. 384:. 372:. 368:. 319:. 311:. 301:28 299:. 224:. 216:, 139:, 135:, 112:. 50:, 1943:/ 1615:/ 1593:e 1586:t 1579:v 1533:9 1529:6 1512:/ 1481:) 1459:) 1445:) 1431:) 1417:) 1403:) 1374:) 1360:) 1346:) 1332:) 1302:) 1282:/ 1276:) 1262:) 1235:/ 1134:/ 1129:, 1125:/ 1095:Y 1093:/ 1091:X 1075:/ 1065:) 1061:( 1057:/ 996:/ 992:/ 971:7 959:5 952:/ 943:4 931:1 923:/ 919:/ 915:/ 911:/ 907:( 768:e 761:t 754:v 687:D 650:. 630:: 607:. 593:: 565:. 551:: 509:. 489:: 466:. 444:: 438:7 410:. 388:: 380:: 350:. 346:: 327:. 307:: 20:)

Index

Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
monosomy

Specialty
Hematology
Edit this on Wikidata
q arm
chromosome 5
myelocyte
myelodysplastic syndrome
trisomy
macrocytic anemia
thrombocytosis
erythroblastopenia
megakaryocyte
hyperplasia
nuclear
hypolobation
genes
pathogenesis
Haploinsufficiency
RPS14
anemia
p53
tumor suppressor
miR-145
miR-146a
megakaryocytic
dysplasia
thrombocytosis

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