159:
97:
shortening) is reported in ~50% of cases overall, but is typically not evident below the age of 2 years. The size and extent of the deleted region cannot be used as reliable indicators of prognosis due to the striking phenotypic variability. Some patients have additional problems such as
637:
268:
Shrimpton AE, Braddock BR, Thomson LL, Stein CK, Hoo JJ (2004). "Molecular delineation of deletions on 2q37.3 in three cases with an
Albright hereditary osteodystrophy-like phenotype".
595:
1413:
1164:
134:
were seen in Aldred's series. No common breakpoints for the deletion were identified indicating that the 2q37 rearrangement is unlikely to be mediated by
1408:
588:
1277:
330:
581:
403:
372:
29:
1267:
219:
Aldred MA, Sanford RO, Thomas NS, Barrow MA, Wilson LC, Brueton LA, Bonaglia MC, Hennekam RC, Eng C, Dennis NR, Trembath RC (2004).
850:
1249:
1192:
782:
130:
deletions, but multiple cases within a single family are also observed. Equal proportions of maternally and paternally derived
1243:
1182:
1120:
737:
766:
1186:
1178:
1134:
826:
701:
679:
142:. In a study of 20 patients, no clear relationship was found between clinical features and the size or position of the
1377:
1365:
745:
632:
822:
818:
221:"Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes"
1124:
562:
126:. Almost all deletions are found to be terminal deletions at the end of chromosome 2. There is a high frequency of
887:
1291:
1253:
1052:
512:
131:
741:
341:
99:
1307:
1299:
1285:
1271:
1229:
1150:
862:
557:
78:
114:
The minimal deletion causing this syndrome has been defined as a 3 megabase region that contains the genes
753:
604:
396:
194:
1381:
517:
481:
444:
135:
1361:
1357:
1108:
1033:
972:
778:
426:
1281:
1094:
728:
491:
431:
62:
1385:
1373:
1369:
1333:
1328:
1263:
877:
657:
293:
82:
1347:
964:
883:
838:
806:
794:
476:
471:
389:
285:
250:
41:
1342:
1338:
1235:
1112:
1080:
711:
547:
496:
277:
240:
232:
139:
58:
46:
1352:
941:
486:
376:
369:
1026:
992:
987:
662:
463:
245:
220:
158:
1402:
1221:
1021:
982:
977:
905:
891:
867:
855:
843:
831:
811:
716:
694:
689:
667:
281:
86:
297:
1016:
923:
919:
799:
787:
771:
759:
749:
652:
439:
66:
346:
1038:
1009:
1004:
901:
1158:
1154:
960:
706:
684:
674:
94:
90:
85:(round face, deep-set eyes, thin upper lip). Behavioural problems are common.
999:
955:
647:
642:
364:
236:
143:
573:
289:
254:
28:
1115:
1065:
1061:
933:
612:
552:
542:
537:
412:
360:
103:
1168:
951:
624:
322:
1257:
1196:
1172:
1102:
123:
115:
1303:
1295:
1239:
1225:
1200:
1128:
1098:
1088:
335:
119:
577:
385:
1084:
153:
381:
77:
Almost all people with this syndrome have some degree of
169:
312:
1321:
1214:
1143:
1073:
1060:
1051:
950:
932:
918:
727:
620:
611:
530:
505:
462:
455:
419:
316:
40:
21:
370:Genetics home reference for 2q37 deletion syndrome
214:
212:
210:
1343:46,XX testicular disorders of sex development
589:
397:
8:
1165:Acute myeloblastic leukemia with maturation
1070:
1057:
929:
617:
596:
582:
574:
459:
404:
390:
382:
313:
18:
244:
531:Mutation with respect to overall fitness
206:
7:
1278:Desmoplastic small-round-cell tumor
1414:Autosomal monosomies and deletions
456:Mutation with respect to structure
14:
851:22q11.2 distal deletion syndrome
282:10.1111/j.1399-0004.2004.00363.x
157:
27:
1250:Dermatofibrosarcoma protuberans
1193:Acute megakaryoblastic leukemia
1121:Anaplastic large-cell lymphoma
783:Chromosome 5q deletion syndrome
1409:Genetic diseases and disorders
36:Deleted Region in Chromosome 2
1:
973:Klinefelter syndrome (47,XXY)
738:1q21.1 copy number variations
1179:Acute promyelocytic leukemia
1135:Acute lymphoblastic leukemia
827:17q12 microdeletion syndrome
702:22q11.2 duplication syndrome
680:16p11.2 duplication syndrome
136:non-homologous recombination
746:1q21.1 duplication syndrome
633:1q21.1 duplication syndrome
65:of a segment at the end of
1430:
513:Chromosomal translocations
1292:Alveolar rhabdomyosarcoma
1027:XYYYY syndrome (49,XYYYY)
993:XXXXY syndrome (49,XXXXY)
988:XXXYY syndrome (49,XXXYY)
35:
26:
767:Wolf–Hirschhorn syndrome
742:1q21.1 deletion syndrome
605:Chromosome abnormalities
100:congenital heart disease
1151:Philadelphia chromosome
1022:XYYY syndrome (48,XYYY)
983:XXXY syndrome (48,XXXY)
978:XXYY syndrome (48,XXYY)
863:22q13 deletion syndrome
638:2q31.1 microduplication
553:Nearly neutral mutation
237:10.1136/jmg.2003.017202
79:intellectual disability
1010:Pentasomy X (49,XXXXX)
942:Turner syndrome (45,X)
823:Smith–Magenis syndrome
819:Miller–Dieker syndrome
754:1p36 deletion syndrome
563:Nonsynonymous mutation
518:Chromosomal inversions
420:Mechanisms of mutation
195:2q37 deletion syndrome
166:This section is empty.
1017:XYY syndrome (47,XYY)
1005:Tetrasomy X (48,XXXX)
888:Prader–Willi syndrome
543:Advantageous mutation
482:Conservative mutation
1109:Mantle cell lymphoma
779:Cri du chat syndrome
538:Deleterious mutation
506:Large-scale mutation
87:Brachymetaphalangism
1095:Follicular lymphoma
558:Synonymous mutation
492:Frameshift mutation
1334:Uniparental disomy
1329:Fragile X syndrome
1264:Myxoid liposarcoma
1116:t(11 CCND1:14 IGH)
1000:Trisomy X (47,XXX)
878:genomic imprinting
658:Distal trisomy 10q
375:2012-03-29 at the
83:facial dysmorphism
73:Signs and symptoms
1396:
1395:
1348:Marker chromosome
1317:
1316:
1210:
1209:
1047:
1046:
914:
913:
884:Angelman syndrome
839:DiGeorge syndrome
807:Jacobsen syndrome
795:Williams syndrome
571:
570:
526:
525:
477:Missense mutation
472:Nonsense mutation
361:DECIPHER database
356:
355:
186:
185:
52:
51:
16:Medical condition
1421:
1339:XX male syndrome
1236:Synovial sarcoma
1113:Multiple myeloma
1081:Burkitt lymphoma
1071:
1058:
961:other karyotypes
930:
712:Cat-eye syndrome
618:
598:
591:
584:
575:
548:Neutral mutation
497:Dynamic mutation
460:
406:
399:
392:
383:
314:
302:
301:
265:
259:
258:
248:
216:
181:
178:
168:You can help by
161:
154:
140:low-copy repeats
59:genetic disorder
47:Medical genetics
31:
19:
1429:
1428:
1424:
1423:
1422:
1420:
1419:
1418:
1399:
1398:
1397:
1392:
1353:Ring chromosome
1313:
1206:
1139:
1043:
959:
946:
910:
723:
622:
607:
602:
572:
567:
522:
501:
487:Silent mutation
451:
415:
410:
377:Wayback Machine
357:
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17:
12:
11:
5:
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1311:
1289:
1275:
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1233:
1218:
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1211:
1208:
1207:
1205:
1204:
1190:
1176:
1162:
1147:
1145:
1141:
1140:
1138:
1137:
1132:
1118:
1106:
1092:
1077:
1075:
1068:
1055:
1053:Translocations
1049:
1048:
1045:
1044:
1042:
1041:
1036:
1030:
1029:
1024:
1019:
1013:
1012:
1007:
1002:
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995:
990:
985:
980:
975:
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967:
948:
947:
945:
944:
938:
936:
927:
916:
915:
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911:
909:
908:
898:
897:
896:
895:
873:
872:
871:
870:
860:
859:
858:
848:
847:
846:
836:
835:
834:
816:
815:
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804:
803:
802:
792:
791:
790:
776:
775:
774:
764:
763:
762:
733:
731:
725:
724:
722:
721:
720:
719:
709:
704:
699:
698:
697:
687:
682:
677:
672:
671:
670:
663:Patau syndrome
660:
655:
650:
645:
640:
635:
629:
627:
615:
609:
608:
603:
601:
600:
593:
586:
578:
569:
568:
566:
565:
560:
555:
550:
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540:
534:
532:
528:
527:
524:
523:
521:
520:
515:
509:
507:
503:
502:
500:
499:
494:
489:
484:
479:
474:
468:
466:
464:Point mutation
457:
453:
452:
450:
449:
448:
447:
442:
434:
429:
423:
421:
417:
416:
411:
409:
408:
401:
394:
386:
380:
379:
367:
354:
353:
350:
349:
338:
326:
321:
320:
318:
317:Classification
310:
309:External links
307:
304:
303:
260:
205:
204:
202:
199:
198:
197:
190:
187:
184:
183:
164:
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151:
148:
132:rearrangements
111:
108:
74:
71:
50:
49:
44:
38:
37:
33:
32:
24:
23:
15:
13:
10:
9:
6:
4:
3:
2:
1426:
1415:
1412:
1410:
1407:
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1404:
1387:
1383:
1379:
1375:
1371:
1367:
1363:
1359:
1356:
1355:
1354:
1351:
1349:
1346:
1344:
1340:
1337:
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1332:
1330:
1327:
1326:
1324:
1320:
1309:
1305:
1301:
1297:
1293:
1290:
1287:
1283:
1279:
1276:
1273:
1269:
1265:
1262:
1259:
1255:
1251:
1248:
1245:
1241:
1237:
1234:
1231:
1227:
1223:
1222:Ewing sarcoma
1220:
1219:
1217:
1213:
1202:
1198:
1194:
1191:
1188:
1184:
1180:
1177:
1174:
1170:
1166:
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1160:
1156:
1152:
1149:
1148:
1146:
1142:
1136:
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1130:
1126:
1122:
1119:
1117:
1114:
1110:
1107:
1104:
1100:
1096:
1093:
1090:
1086:
1082:
1079:
1078:
1076:
1072:
1069:
1067:
1063:
1059:
1056:
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1050:
1040:
1037:
1035:
1032:
1031:
1028:
1025:
1023:
1020:
1018:
1015:
1014:
1011:
1008:
1006:
1003:
1001:
998:
997:
994:
991:
989:
986:
984:
981:
979:
976:
974:
971:
970:
968:
966:
962:
957:
953:
949:
943:
940:
939:
937:
935:
931:
928:
925:
921:
917:
907:
906:Proximal 18q-
903:
900:
899:
893:
889:
885:
882:
881:
880:
879:
875:
874:
869:
866:
865:
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857:
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842:
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840:
837:
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710:
708:
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703:
700:
696:
693:
692:
691:
690:Down syndrome
688:
686:
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681:
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676:
673:
669:
666:
665:
664:
661:
659:
656:
654:
651:
649:
646:
644:
641:
639:
636:
634:
631:
630:
628:
626:
621:Duplications,
619:
616:
614:
610:
606:
599:
594:
592:
587:
585:
580:
579:
576:
564:
561:
559:
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554:
551:
549:
546:
544:
541:
539:
536:
535:
533:
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519:
516:
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511:
510:
508:
504:
498:
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493:
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488:
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483:
480:
478:
475:
473:
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469:
467:
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461:
458:
454:
446:
443:
441:
438:
437:
436:Substitution
435:
433:
430:
428:
425:
424:
422:
418:
414:
407:
402:
400:
395:
393:
388:
387:
384:
378:
374:
371:
368:
366:
365:2q37 monosomy
362:
359:
358:
348:
344:
343:
339:
337:
333:
332:
328:
327:
324:
319:
315:
308:
299:
295:
291:
287:
283:
279:
276:(6): 537–44.
275:
271:
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261:
256:
252:
247:
242:
238:
234:
230:
226:
222:
215:
213:
211:
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107:
105:
101:
96:
92:
88:
84:
80:
72:
70:
68:
64:
60:
56:
55:2q37 monosomy
48:
45:
43:
39:
34:
30:
25:
22:2q37 monosomy
20:
876:
750:TAR syndrome
653:Tetrasomy 9p
440:Transversion
340:
329:
273:
269:
263:
231:(6): 433–9.
228:
224:
174:
170:adding to it
165:
127:
113:
76:
67:chromosome 2
61:caused by a
54:
53:
1039:46,XX/46,XY
956:tetrasomies
902:Distal 18q-
225:J Med Genet
1403:Categories
1034:45,X/46,XY
934:Monosomies
707:Trisomy 22
685:Trisomy 18
675:Trisomy 16
623:including
445:Transition
363:entry for
270:Clin Genet
201:References
95:metatarsal
91:metacarpal
57:is a rare
952:Trisomies
729:Deletions
648:Trisomy 9
643:Trisomy 8
625:trisomies
613:Autosomal
427:Insertion
177:July 2022
150:Diagnosis
144:monosomic
42:Specialty
1074:Lymphoid
1066:lymphoma
1062:Leukemia
432:Deletion
413:Mutation
373:Archived
298:42975740
290:15521982
255:15173228
189:See also
146:region.
110:Genetics
104:seizures
63:deletion
1302:) t (1
1169:RUNX1T1
1144:Myeloid
965:mosaics
347:C538317
246:1735790
128:de novo
1254:COL1A1
926:linked
336:600430
296:
288:
253:
243:
1322:Other
1308:FOXO1
1306:; 13
1300:FOXO1
1298:; 13
1284:; 22
1280:t(11
1270:; 16
1268:DDIT3
1266:t(12
1258:PDGFB
1252:t(17
1228:; 22
1224:t(11
1215:Other
1197:RBM15
1181:t(15
1173:RUNX1
1157:; 22
1097:t(14
294:S2CID
124:STK25
116:GPR35
1304:PAX7
1296:PAX3
1294:t(2
1256:;22
1242:;18
1238:t(x
1226:FLI1
1201:MKL1
1199:;22
1195:t(1
1187:RARA
1185:,17
1171:;21
1167:t(8
1153:t(9
1129:NPM1
1123:t(2
1103:BCL2
1101:;18
1087:;14
1083:t(8
342:MeSH
331:OMIM
286:PMID
251:PMID
138:and
122:and
120:GPC1
102:and
81:and
1286:EWS
1282:WT1
1272:FUS
1244:SSX
1240:SYT
1230:EWS
1183:PML
1159:BCR
1155:ABL
1127:;5
1125:ALK
1099:IGH
1089:IGH
1085:MYC
278:doi
241:PMC
233:doi
172:.
93:or
1405::
1386:22
1384:,
1382:21
1380:;
1378:20
1376:;
1374:18
1372:;
1370:15
1368:;
1366:14
1364:;
1360:;
892:15
868:22
856:22
844:22
832:17
812:11
756:)
717:22
695:21
668:13
345::
334::
292:.
284:.
274:66
272:.
249:.
239:.
229:41
227:.
223:.
209:^
118:,
106:.
69:.
1362:9
1358:6
1341:/
1310:)
1288:)
1274:)
1260:)
1246:)
1232:)
1203:)
1189:)
1175:)
1161:)
1131:)
1111:/
1105:)
1091:)
1064:/
963:/
958:,
954:/
924:Y
922:/
920:X
904:/
894:)
890:(
886:/
825:/
821:/
800:7
788:5
781:/
772:4
760:1
752:/
748:/
744:/
740:/
736:(
597:e
590:t
583:v
405:e
398:t
391:v
323:D
300:.
280::
257:.
235::
179:)
175:(
89:(
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