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Trisomies are sometimes characterised as "autosomal trisomies" (trisomies of the non-sex chromosomes) and "sex-chromosome trisomies." Autosomal trisomies are described by referencing the specific chromosome that has an extra copy. Thus, for example, the presence of an extra
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creates gamete cells (eggs or sperm) having only one set of chromosomes. The number of chromosomes is different for different species, with humans having 46 chromosomes (23 pairs) and human gametes 23 chromosomes.
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Compared to trisomy of the autosomal chromosomes, trisomy of the sex chromosomes normally has less severe consequences. Individuals may show few or no symptoms and have a normal life expectancy.
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is most common in human pregnancies, occurring in more than 1%, but the only surviving embryos are those having some normal cells in addition to the trisomic cells (
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Most organisms that reproduce sexually have pairs of chromosomes in each cell, with one of each type of chromosome inherited from each parent. In such organisms,
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If the chromosome pairs fail to separate properly during cell division, the egg or sperm may end up with a second copy of one of the chromosomes (
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Of these, Trisomy 21 and
Trisomy 18 are the most common. In rare cases, a fetus with Trisomy 13 can survive, giving rise to
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242:"Secondary trisomy" - the extra chromosome has quadruplicated arms (the arms are identical; it is an "isochromosome").
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236:"Full trisomy", also called "primary trisomy", means that an entire extra chromosome has been copied.
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245:"Tertiary trisomy" - the extra chromosome is made up of copies of arms from two other chromosomes.
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The number of chromosomes in the cell where trisomy occurs is represented as, for example, 2
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491:"Recombination and maternal age-dependent nondisjunction: molecular studies of trisomy 16"
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239:"Partial trisomy" means that there is an extra copy of part of a chromosome.
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trisomy 16). Furthermore, even these embryos usually suffer spontaneous
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Hassold, T; Merrill, M; Adkins, K; Freeman, S; Sherman, S (1995).
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A glossary of genetics and cytogenetics: Classical and molecular
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Abnormal presence of three copies of a particular chromosome
341:. Autosomal trisomy can be associated with birth defects,
300:(non-sex chromosome) trisomy that survive to birth are:
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192:, instead of the normal two. A trisomy is a type of
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188:in which there are three instances of a particular
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60:. Unsourced material may be challenged and removed.
461:
460:Rieger, R.; Michaelis, A.; Green, M.M. (1968).
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1419:46,XX testicular disorders of sex development
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8:
1241:Acute myeloblastic leukemia with maturation
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273:of a human with Trisomy 21 (Down syndrome)
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535:"Chromosomal Abnormalities: Aneuploidies"
506:
120:Learn how and when to remove this message
455:
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451:
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228:+1 if one chromosome shows trisomy, 2
196:(an abnormal number of chromosomes).
7:
58:adding citations to reliable sources
1354:Desmoplastic small-round-cell tumor
495:American Journal of Human Genetics
25:
927:22q11.2 distal deletion syndrome
34:
1326:Dermatofibrosarcoma protuberans
1269:Acute megakaryoblastic leukemia
1197:Anaplastic large-cell lymphoma
859:Chromosome 5q deletion syndrome
296:The most common types of human
232:+1+1 if two show trisomy, etc.
45:needs additional citations for
1:
1049:Klinefelter syndrome (47,XXY)
814:1q21.1 copy number variations
468:. New York: Springer-Verlag.
277:Trisomies can occur with any
1255:Acute promyelocytic leukemia
1211:Acute lymphoblastic leukemia
903:17q12 microdeletion syndrome
778:22q11.2 duplication syndrome
756:16p11.2 duplication syndrome
354:can also occur and include:
161:short tandem repeat analysis
822:1q21.1 duplication syndrome
709:1q21.1 duplication syndrome
1506:
1490:Chromosomal abnormalities
1368:Alveolar rhabdomyosarcoma
1103:XYYYY syndrome (49,XYYYY)
1069:XXXXY syndrome (49,XXXXY)
1064:XXXYY syndrome (49,XXXYY)
151:
142:
843:Wolf–Hirschhorn syndrome
818:1q21.1 deletion syndrome
681:Chromosome abnormalities
533:O'Connor, Clare (2008).
389:Chromosome abnormalities
293:in the first trimester.
258:, is called trisomy 21.
1227:Philadelphia chromosome
1098:XYYY syndrome (48,XYYY)
1059:XXXY syndrome (48,XXXY)
1054:XXYY syndrome (48,XXYY)
939:22q13 deletion syndrome
714:2q31.1 microduplication
343:intellectual disability
1086:Pentasomy X (49,XXXXX)
1018:Turner syndrome (45,X)
899:Smith–Magenis syndrome
895:Miller–Dieker syndrome
830:1p36 deletion syndrome
274:
200:Description and causes
1093:XYY syndrome (47,XYY)
1081:Tetrasomy X (48,XXXX)
964:Prader–Willi syndrome
269:
1185:Mantle cell lymphoma
855:Cri du chat syndrome
367:Klinefelter syndrome
345:and shortened life.
333:(Warkany syndrome 2)
254:, which is found in
54:improve this article
1171:Follicular lymphoma
404:Sexual reproduction
1410:Uniparental disomy
1405:Fragile X syndrome
1340:Myxoid liposarcoma
1192:t(11 CCND1:14 IGH)
1076:Trisomy X (47,XXX)
954:genomic imprinting
734:Distal trisomy 10q
624:External resources
429:"CRC - Glossary T"
275:
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1471:
1424:Marker chromosome
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1123:
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990:
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960:Angelman syndrome
915:DiGeorge syndrome
883:Jacobsen syndrome
871:Williams syndrome
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375:(Jacobs syndrome)
360:Triple X syndrome
178:
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132:Medical condition
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16:(Redirected from
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1415:XX male syndrome
1312:Synovial sarcoma
1189:Multiple myeloma
1157:Burkitt lymphoma
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1037:other karyotypes
1006:
788:Cat-eye syndrome
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539:Nature Education
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431:. Archived from
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313:Edwards syndrome
173:Medical genetics
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1429:Ring chromosome
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351:sex chromosomes
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1129:Translocations
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739:Patau syndrome
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557:Classification
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339:Patau syndrome
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1298:Ewing sarcoma
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993:
983:
982:Proximal 18q-
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766:Down syndrome
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697:Duplications,
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501:(4): 867–74.
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475:9780387076683
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435:on 2010-06-16
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306:Down syndrome
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262:Human trisomy
261:
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256:Down syndrome
253:
252:chromosome 21
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184:is a type of
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156:detected via
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71: –
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66:
65:Find sources:
59:
55:
49:
48:
43:This article
41:
37:
32:
31:
19:
1485:Cytogenetics
1027:
952:
826:TAR syndrome
729:Tetrasomy 9p
700:
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569:
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498:
494:
484:
463:
437:. Retrieved
433:the original
423:
378:
348:
347:
336:
318:Trisomy 13 (
311:Trisomy 18 (
304:Trisomy 21 (
295:
276:
248:
229:
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211:
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181:
179:
116:
107:
97:
90:
83:
76:
64:
52:Please help
47:verification
44:
1115:46,XX/46,XY
1032:tetrasomies
978:Distal 18q-
349:Trisomy of
291:miscarriage
220:Terminology
152:Example of
110:August 2012
1479:Categories
1110:45,X/46,XY
1010:Monosomies
783:Trisomy 22
761:Trisomy 18
751:Trisomy 16
699:including
439:2007-12-23
415:References
394:Aneuploidy
283:Trisomy 16
279:chromosome
194:aneuploidy
190:chromosome
154:trisomy 21
80:newspapers
1028:Trisomies
805:Deletions
724:Trisomy 9
719:Trisomy 8
701:trisomies
689:Autosomal
609:SNOMED CT
545:(1): 172.
399:Karyotype
331:Trisomy 8
326:Trisomy 9
298:autosomal
271:Karyotype
168:Specialty
69:"Trisomy"
1150:Lymphoid
1142:lymphoma
1138:Leukemia
633:Orphanet
614:78989007
409:Monosomy
383:See also
186:polysomy
18:Trisomic
1378:) t (1
1245:RUNX1T1
1220:Myeloid
1041:mosaics
603:D014314
517:7573048
508:1801507
206:meiosis
182:trisomy
138:Trisomy
94:scholar
1330:COL1A1
1002:linked
515:
505:
472:
287:mosaic
96:
89:
82:
75:
67:
1398:Other
1384:FOXO1
1382:; 13
1376:FOXO1
1374:; 13
1360:; 22
1356:t(11
1346:; 16
1344:DDIT3
1342:t(12
1334:PDGFB
1328:t(17
1304:; 22
1300:t(11
1291:Other
1273:RBM15
1257:t(15
1249:RUNX1
1233:; 22
1173:t(14
365:XXY (
358:XXX (
101:JSTOR
87:books
1380:PAX7
1372:PAX3
1370:t(2
1332:;22
1318:;18
1314:t(x
1302:FLI1
1277:MKL1
1275:;22
1271:t(1
1263:RARA
1261:,17
1247:;21
1243:t(8
1229:t(9
1205:NPM1
1199:t(2
1179:BCL2
1177:;18
1163:;14
1159:t(8
638:3376
598:MeSH
513:PMID
470:ISBN
158:qPCR
73:news
1362:EWS
1358:WT1
1348:FUS
1320:SSX
1316:SYT
1306:EWS
1259:PML
1235:BCR
1231:ABL
1203:;5
1201:ALK
1175:IGH
1165:IGH
1161:MYC
592:Q98
588:Q97
584:Q92
580:Q90
571:ICD
503:PMC
373:XYY
56:by
1481::
1462:22
1460:,
1458:21
1456:;
1454:20
1452:;
1450:18
1448:;
1446:15
1444:;
1442:14
1440:;
1436:;
968:15
944:22
932:22
920:22
908:17
888:11
832:)
793:22
771:21
744:13
636::
612::
601::
578::
575:10
541:.
537:.
525:^
511:.
499:57
497:.
493:.
448:^
180:A
1438:9
1434:6
1417:/
1386:)
1364:)
1350:)
1336:)
1322:)
1308:)
1279:)
1265:)
1251:)
1237:)
1207:)
1187:/
1181:)
1167:)
1140:/
1039:/
1034:,
1030:/
1000:Y
998:/
996:X
980:/
970:)
966:(
962:/
901:/
897:/
876:7
864:5
857:/
848:4
836:1
828:/
824:/
820:/
816:/
812:(
673:e
666:t
659:v
590:-
582:-
573:-
563:D
543:1
519:.
478:.
442:.
369:)
362:)
322:)
315:)
308:)
230:n
226:n
123:)
117:(
112:)
108:(
98:·
91:·
84:·
77:·
50:.
20:)
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