27:
which generally cannot be identified without specialized genomic analysis due to the size of the fragment. The significance of a marker is variable as it depends on what material is contained within the marker. The large majority of these marker chromosomes are smaller than one of the smaller human
58:
supernumerary chromosome. A marker can be composed of inactive genetic material and have little or no effect, or it can carry active genes and cause genetic conditions such as iso(12p), which is associated with
359:
317:
136:"Molecular characterization of 20 small supernumerary marker chromosome cases using array comparative genomic hybridization and fluorescence in situ hybridization"
886:
289:
310:
76:
33:
39:
Marker chromosomes occur sporadically about 70% of the time, with the remainder being inherited from a parent. About 50% of cases involve
999:
1130:
303:
989:
244:"Mechanisms and Consequences of Small Supernumerary Marker Chromosomes: From Barbara McClintock to Modern Genetic-Counseling Issues"
572:
122:
107:
971:
914:
504:
43:, which affects the severity of the condition. The frequency is approximately 3-4 per 10,000 people, and 1 in 300 people with
965:
904:
842:
459:
488:
908:
900:
856:
548:
423:
401:
1099:
1087:
467:
354:
191:
Jafari-Ghahfarokhi H, Moradi-Chaleshtori M, Liehr T, Hashemzadeh-Chaleshtori M, Teimori H, Ghasemi-Dehkordi P (2015).
544:
540:
75:
has been observed to contribute to a high number of marker chromosomes, but the reason has not been determined. The
846:
292:
An
International System for Human Cytogenetic Nomenclature, Shaffer, L.G., Tommerup N. (eds); S. Karger, Basel 2005
60:
609:
242:
Baldwin, Erin L.; May, Lorraine F.; Justice, April N.; Martin, Christa L.; Ledbetter, David H. (8 February 2008).
1013:
975:
774:
290:
https://web.archive.org/web/20060926021351/http://www.chromodisorder.org/sytrix/card_list.php3?dbid=63&id=365
463:
1029:
1021:
1007:
993:
951:
872:
584:
44:
475:
326:
1103:
1083:
1079:
830:
755:
694:
500:
147:
1003:
816:
450:
50:
Marker chromosomes typically occur in addition to the standard 46 chromosomes, making it a partial
1107:
1095:
1091:
1055:
1050:
985:
599:
379:
686:
605:
560:
528:
516:
273:
224:
173:
123:
https://www.clinicalkey.com/#!/content/book/3-s2.0-B9781455775668000818?scrollTo=%23hl0003126
108:
https://www.clinicalkey.com/#!/content/book/3-s2.0-B9781437706963000054?scrollTo=%23hl0000654
1064:
1060:
957:
834:
802:
433:
263:
255:
214:
204:
163:
155:
134:
Sun M, Zhang H, Li G, Guy CJ, Wang X, Lu X, Gong F, Lee J, Hassed S, Li S (September 2017).
68:
1074:
663:
151:
748:
714:
709:
384:
268:
243:
219:
192:
168:
135:
193:"Small supernumerary marker chromosomes and their correlation with specific syndromes"
1124:
943:
743:
704:
699:
627:
613:
589:
577:
565:
553:
533:
438:
416:
411:
389:
80:
72:
64:
29:
738:
645:
641:
521:
509:
493:
481:
471:
374:
760:
731:
726:
623:
259:
159:
880:
876:
682:
428:
406:
396:
24:
209:
721:
677:
369:
364:
55:
40:
295:
277:
228:
177:
837:
787:
783:
655:
334:
890:
673:
346:
51:
84:
979:
918:
894:
824:
1025:
1017:
961:
947:
922:
850:
820:
810:
299:
106:
Thompson & Thompson
Genetics in Medicine, Chapter 5, 57-74
806:
67:, which is associated with intellectual disability and
1043:
936:
865:
795:
782:
773:
672:
654:
640:
449:
342:
333:
121:Nelson Textbook of Pediatrics, Chapter 81, 604-627
87:that are associated with various types of sSMCs.
1065:46,XX testicular disorders of sex development
311:
8:
887:Acute myeloblastic leukemia with maturation
792:
779:
651:
339:
318:
304:
296:
102:
100:
267:
218:
208:
167:
117:
115:
96:
79:(sSMC) page contains examples of other
16:Abnormal small fragment of a chromosome
34:small supernumerary marker chromosomes
77:small supernumerary marker chromosome
7:
1000:Desmoplastic small-round-cell tumor
248:American Journal of Human Genetics
14:
573:22q11.2 distal deletion syndrome
972:Dermatofibrosarcoma protuberans
915:Acute megakaryoblastic leukemia
843:Anaplastic large-cell lymphoma
505:Chromosome 5q deletion syndrome
32:, and by definition are termed
23:(mar) is a small fragment of a
1:
695:Klinefelter syndrome (47,XXY)
460:1q21.1 copy number variations
901:Acute promyelocytic leukemia
857:Acute lymphoblastic leukemia
549:17q12 microdeletion syndrome
424:22q11.2 duplication syndrome
402:16p11.2 duplication syndrome
197:Advanced Biomedical Research
468:1q21.1 duplication syndrome
355:1q21.1 duplication syndrome
1147:
260:10.1016/j.ajhg.2007.10.013
160:10.1038/s41598-017-10466-z
61:Pallister-Killian syndrome
1131:Chromosomal abnormalities
1014:Alveolar rhabdomyosarcoma
749:XYYYY syndrome (49,XYYYY)
715:XXXXY syndrome (49,XXXXY)
710:XXXYY syndrome (49,XXXYY)
489:Wolf–Hirschhorn syndrome
464:1q21.1 deletion syndrome
327:Chromosome abnormalities
210:10.4103/2277-9175.161542
873:Philadelphia chromosome
744:XYYY syndrome (48,XYYY)
705:XXXY syndrome (48,XXXY)
700:XXYY syndrome (48,XXYY)
585:22q13 deletion syndrome
360:2q31.1 microduplication
45:intellectual disability
732:Pentasomy X (49,XXXXX)
664:Turner syndrome (45,X)
545:Smith–Magenis syndrome
541:Miller–Dieker syndrome
476:1p36 deletion syndrome
739:XYY syndrome (47,XYY)
727:Tetrasomy X (48,XXXX)
610:Prader–Willi syndrome
831:Mantle cell lymphoma
501:Cri du chat syndrome
817:Follicular lymphoma
152:2017NatSR...710395S
1056:Uniparental disomy
1051:Fragile X syndrome
986:Myxoid liposarcoma
838:t(11 CCND1:14 IGH)
722:Trisomy X (47,XXX)
600:genomic imprinting
380:Distal trisomy 10q
140:Scientific Reports
1118:
1117:
1070:Marker chromosome
1039:
1038:
932:
931:
769:
768:
636:
635:
606:Angelman syndrome
561:DiGeorge syndrome
529:Jacobsen syndrome
517:Williams syndrome
83:, syndromes, and
21:marker chromosome
1138:
1061:XX male syndrome
958:Synovial sarcoma
835:Multiple myeloma
803:Burkitt lymphoma
793:
780:
683:other karyotypes
652:
434:Cat-eye syndrome
340:
320:
313:
306:
297:
282:
281:
271:
239:
233:
232:
222:
212:
188:
182:
181:
171:
131:
125:
119:
110:
104:
69:syndromic facies
1146:
1145:
1141:
1140:
1139:
1137:
1136:
1135:
1121:
1120:
1119:
1114:
1075:Ring chromosome
1035:
928:
861:
765:
681:
668:
632:
445:
344:
329:
324:
286:
285:
241:
240:
236:
190:
189:
185:
133:
132:
128:
120:
113:
105:
98:
93:
17:
12:
11:
5:
1144:
1142:
1134:
1133:
1123:
1122:
1116:
1115:
1113:
1112:
1111:
1110:
1072:
1067:
1058:
1053:
1047:
1045:
1041:
1040:
1037:
1036:
1034:
1033:
1011:
997:
983:
969:
955:
940:
938:
934:
933:
930:
929:
927:
926:
912:
898:
884:
869:
867:
863:
862:
860:
859:
854:
840:
828:
814:
799:
797:
790:
777:
775:Translocations
771:
770:
767:
766:
764:
763:
758:
752:
751:
746:
741:
735:
734:
729:
724:
718:
717:
712:
707:
702:
697:
691:
689:
670:
669:
667:
666:
660:
658:
649:
638:
637:
634:
633:
631:
630:
620:
619:
618:
617:
595:
594:
593:
592:
582:
581:
580:
570:
569:
568:
558:
557:
556:
538:
537:
536:
526:
525:
524:
514:
513:
512:
498:
497:
496:
486:
485:
484:
455:
453:
447:
446:
444:
443:
442:
441:
431:
426:
421:
420:
419:
409:
404:
399:
394:
393:
392:
385:Patau syndrome
382:
377:
372:
367:
362:
357:
351:
349:
337:
331:
330:
325:
323:
322:
315:
308:
300:
294:
293:
284:
283:
254:(2): 398–410.
234:
183:
126:
111:
95:
94:
92:
89:
15:
13:
10:
9:
6:
4:
3:
2:
1143:
1132:
1129:
1128:
1126:
1109:
1105:
1101:
1097:
1093:
1089:
1085:
1081:
1078:
1077:
1076:
1073:
1071:
1068:
1066:
1062:
1059:
1057:
1054:
1052:
1049:
1048:
1046:
1042:
1031:
1027:
1023:
1019:
1015:
1012:
1009:
1005:
1001:
998:
995:
991:
987:
984:
981:
977:
973:
970:
967:
963:
959:
956:
953:
949:
945:
944:Ewing sarcoma
942:
941:
939:
935:
924:
920:
916:
913:
910:
906:
902:
899:
896:
892:
888:
885:
882:
878:
874:
871:
870:
868:
864:
858:
855:
852:
848:
844:
841:
839:
836:
832:
829:
826:
822:
818:
815:
812:
808:
804:
801:
800:
798:
794:
791:
789:
785:
781:
778:
776:
772:
762:
759:
757:
754:
753:
750:
747:
745:
742:
740:
737:
736:
733:
730:
728:
725:
723:
720:
719:
716:
713:
711:
708:
706:
703:
701:
698:
696:
693:
692:
690:
688:
684:
679:
675:
671:
665:
662:
661:
659:
657:
653:
650:
647:
643:
639:
629:
628:Proximal 18q-
625:
622:
621:
615:
611:
607:
604:
603:
602:
601:
597:
596:
591:
588:
587:
586:
583:
579:
576:
575:
574:
571:
567:
564:
563:
562:
559:
555:
552:
551:
550:
546:
542:
539:
535:
532:
531:
530:
527:
523:
520:
519:
518:
515:
511:
508:
507:
506:
502:
499:
495:
492:
491:
490:
487:
483:
480:
479:
477:
473:
469:
465:
461:
457:
456:
454:
452:
448:
440:
437:
436:
435:
432:
430:
427:
425:
422:
418:
415:
414:
413:
412:Down syndrome
410:
408:
405:
403:
400:
398:
395:
391:
388:
387:
386:
383:
381:
378:
376:
373:
371:
368:
366:
363:
361:
358:
356:
353:
352:
350:
348:
343:Duplications,
341:
338:
336:
332:
328:
321:
316:
314:
309:
307:
302:
301:
298:
291:
288:
287:
279:
275:
270:
265:
261:
257:
253:
249:
245:
238:
235:
230:
226:
221:
216:
211:
206:
202:
198:
194:
187:
184:
179:
175:
170:
165:
161:
157:
153:
149:
145:
141:
137:
130:
127:
124:
118:
116:
112:
109:
103:
101:
97:
90:
88:
86:
82:
81:birth defects
78:
74:
73:Chromosome 15
70:
66:
62:
57:
53:
48:
46:
42:
37:
35:
31:
30:chromosome 20
28:chromosomes,
26:
22:
1069:
598:
472:TAR syndrome
375:Tetrasomy 9p
251:
247:
237:
200:
196:
186:
146:(1): 10395.
143:
139:
129:
49:
38:
20:
18:
761:46,XX/46,XY
678:tetrasomies
624:Distal 18q-
756:45,X/46,XY
656:Monosomies
429:Trisomy 22
407:Trisomy 18
397:Trisomy 16
345:including
91:References
25:chromosome
674:Trisomies
451:Deletions
370:Trisomy 9
365:Trisomy 8
347:trisomies
335:Autosomal
56:tetrasomy
41:mosaicism
1125:Category
796:Lymphoid
788:lymphoma
784:Leukemia
278:18252220
229:26322288
178:28871159
65:iso(18p)
1024:) t (1
891:RUNX1T1
866:Myeloid
687:mosaics
269:2427313
220:4544121
203:: 140.
169:5583289
148:Bibcode
52:trisomy
976:COL1A1
648:linked
276:
266:
227:
217:
176:
166:
85:tumors
63:, and
1044:Other
1030:FOXO1
1028:; 13
1022:FOXO1
1020:; 13
1006:; 22
1002:t(11
992:; 16
990:DDIT3
988:t(12
980:PDGFB
974:t(17
950:; 22
946:t(11
937:Other
919:RBM15
903:t(15
895:RUNX1
879:; 22
819:t(14
1026:PAX7
1018:PAX3
1016:t(2
978:;22
964:;18
960:t(x
948:FLI1
923:MKL1
921:;22
917:t(1
909:RARA
907:,17
893:;21
889:t(8
875:t(9
851:NPM1
845:t(2
825:BCL2
823:;18
809:;14
805:t(8
274:PMID
225:PMID
174:PMID
1008:EWS
1004:WT1
994:FUS
966:SSX
962:SYT
952:EWS
905:PML
881:BCR
877:ABL
849:;5
847:ALK
821:IGH
811:IGH
807:MYC
264:PMC
256:doi
215:PMC
205:doi
164:PMC
156:doi
54:or
1127::
1108:22
1106:,
1104:21
1102:;
1100:20
1098:;
1096:18
1094:;
1092:15
1090:;
1088:14
1086:;
1082:;
614:15
590:22
578:22
566:22
554:17
534:11
478:)
439:22
417:21
390:13
272:.
262:.
252:82
250:.
246:.
223:.
213:.
199:.
195:.
172:.
162:.
154:.
142:.
138:.
114:^
99:^
71:.
47:.
36:.
19:A
1084:9
1080:6
1063:/
1032:)
1010:)
996:)
982:)
968:)
954:)
925:)
911:)
897:)
883:)
853:)
833:/
827:)
813:)
786:/
685:/
680:,
676:/
646:Y
644:/
642:X
626:/
616:)
612:(
608:/
547:/
543:/
522:7
510:5
503:/
494:4
482:1
474:/
470:/
466:/
462:/
458:(
319:e
312:t
305:v
280:.
258::
231:.
207::
201:4
180:.
158::
150::
144:7
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