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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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231:"Secondary trisomy" - the extra chromosome has quadruplicated arms (the arms are identical; it is an "isochromosome").
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225:"Full trisomy", also called "primary trisomy", means that an entire extra chromosome has been copied.
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234:"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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480:"Recombination and maternal age-dependent nondisjunction: molecular studies of trisomy 16"
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228:"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
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330:. Autosomal trisomy can be associated with birth defects,
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289:(non-sex chromosome) trisomy that survive to birth are:
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181:, instead of the normal two. A trisomy is a type of
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177:in which there are three instances of a particular
49:. Unsourced material may be challenged and removed.
450:
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449:Rieger, R.; Michaelis, A.; Green, M.M. (1968).
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1408:46,XX testicular disorders of sex development
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1230:Acute myeloblastic leukemia with maturation
512:
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262:of a human with Trisomy 21 (Down syndrome)
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524:"Chromosomal Abnormalities: Aneuploidies"
495:
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109:Learn how and when to remove this message
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217:+1 if one chromosome shows trisomy, 2
185:(an abnormal number of chromosomes).
47:adding citations to reliable sources
18:
1343:Desmoplastic small-round-cell tumor
13:
484:American Journal of Human Genetics
14:
1490:
916:22q11.2 distal deletion syndrome
250:
23:
1315:Dermatofibrosarcoma protuberans
1258:Acute megakaryoblastic leukemia
1186:Anaplastic large-cell lymphoma
848:Chromosome 5q deletion syndrome
285:The most common types of human
221:+1+1 if two show trisomy, etc.
34:needs additional citations for
208:
1:
1038:Klinefelter syndrome (47,XXY)
803:1q21.1 copy number variations
457:. New York: Springer-Verlag.
403:
266:Trisomies can occur with any
1244:Acute promyelocytic leukemia
1200:Acute lymphoblastic leukemia
892:17q12 microdeletion syndrome
767:22q11.2 duplication syndrome
745:16p11.2 duplication syndrome
343:can also occur and include:
150:short tandem repeat analysis
7:
811:1q21.1 duplication syndrome
698:1q21.1 duplication syndrome
371:
10:
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1479:Chromosomal abnormalities
1386:
1357:Alveolar rhabdomyosarcoma
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1208:
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1125:
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1092:XYYYY syndrome (49,XYYYY)
1058:XXXXY syndrome (49,XXXXY)
1053:XXXYY syndrome (49,XXXYY)
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832:Wolf–Hirschhorn syndrome
807:1q21.1 deletion syndrome
670:Chromosome abnormalities
522:O'Connor, Clare (2008).
378:Chromosome abnormalities
282:in the first trimester.
247:, is called trisomy 21.
1216:Philadelphia chromosome
1087:XYYY syndrome (48,XYYY)
1048:XXXY syndrome (48,XXXY)
1043:XXYY syndrome (48,XXYY)
928:22q13 deletion syndrome
703:2q31.1 microduplication
332:intellectual disability
1075:Pentasomy X (49,XXXXX)
1007:Turner syndrome (45,X)
888:Smith–Magenis syndrome
884:Miller–Dieker syndrome
819:1p36 deletion syndrome
263:
189:Description and causes
1082:XYY syndrome (47,XYY)
1070:Tetrasomy X (48,XXXX)
953:Prader–Willi syndrome
258:
1174:Mantle cell lymphoma
844:Cri du chat syndrome
356:Klinefelter syndrome
334:and shortened life.
322:(Warkany syndrome 2)
243:, which is found in
43:improve this article
1160:Follicular lymphoma
393:Sexual reproduction
1399:Uniparental disomy
1394:Fragile X syndrome
1329:Myxoid liposarcoma
1181:t(11 CCND1:14 IGH)
1065:Trisomy X (47,XXX)
943:genomic imprinting
723:Distal trisomy 10q
613:External resources
418:"CRC - Glossary T"
264:
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1413:Marker chromosome
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1111:
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978:
949:Angelman syndrome
904:DiGeorge syndrome
872:Jacobsen syndrome
860:Williams syndrome
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364:(Jacobs syndrome)
349:Triple X syndrome
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121:Medical condition
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1404:XX male syndrome
1301:Synovial sarcoma
1178:Multiple myeloma
1146:Burkitt lymphoma
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1026:other karyotypes
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777:Cat-eye syndrome
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528:Nature Education
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420:. Archived from
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302:Edwards syndrome
162:Medical genetics
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1418:Ring chromosome
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1118:Translocations
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728:Patau syndrome
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546:Classification
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328:Patau syndrome
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309:Patau syndrome
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1287:Ewing sarcoma
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971:Proximal 18q-
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755:Down syndrome
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686:Duplications,
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490:(4): 867–74.
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464:9780387076683
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424:on 2010-06-16
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295:Down syndrome
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251:Human trisomy
248:
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245:Down syndrome
242:
241:chromosome 21
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173:is a type of
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145:detected via
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60: –
59:
55:
54:Find sources:
48:
44:
38:
37:
32:This article
30:
26:
21:
20:
1474:Cytogenetics
1016:
941:
815:TAR syndrome
718:Tetrasomy 9p
689:
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558:
531:
527:
487:
483:
473:
452:
426:. Retrieved
422:the original
412:
367:
337:
336:
325:
307:Trisomy 13 (
300:Trisomy 18 (
293:Trisomy 21 (
284:
265:
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218:
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212:
200:
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170:
168:
105:
96:
86:
79:
72:
65:
53:
41:Please help
36:verification
33:
1104:46,XX/46,XY
1021:tetrasomies
967:Distal 18q-
338:Trisomy of
280:miscarriage
209:Terminology
141:Example of
99:August 2012
1468:Categories
1099:45,X/46,XY
999:Monosomies
772:Trisomy 22
750:Trisomy 18
740:Trisomy 16
688:including
428:2007-12-23
404:References
383:Aneuploidy
272:Trisomy 16
268:chromosome
183:aneuploidy
179:chromosome
143:trisomy 21
69:newspapers
1017:Trisomies
794:Deletions
713:Trisomy 9
708:Trisomy 8
690:trisomies
678:Autosomal
598:SNOMED CT
534:(1): 172.
388:Karyotype
320:Trisomy 8
315:Trisomy 9
287:autosomal
260:Karyotype
157:Specialty
58:"Trisomy"
1139:Lymphoid
1131:lymphoma
1127:Leukemia
622:Orphanet
603:78989007
398:Monosomy
372:See also
175:polysomy
1367:) t (1
1234:RUNX1T1
1209:Myeloid
1030:mosaics
592:D014314
506:7573048
497:1801507
195:meiosis
171:trisomy
127:Trisomy
83:scholar
1319:COL1A1
991:linked
504:
494:
461:
276:mosaic
85:
78:
71:
64:
56:
1387:Other
1373:FOXO1
1371:; 13
1365:FOXO1
1363:; 13
1349:; 22
1345:t(11
1335:; 16
1333:DDIT3
1331:t(12
1323:PDGFB
1317:t(17
1293:; 22
1289:t(11
1280:Other
1262:RBM15
1246:t(15
1238:RUNX1
1222:; 22
1162:t(14
354:XXY (
347:XXX (
90:JSTOR
76:books
1369:PAX7
1361:PAX3
1359:t(2
1321:;22
1307:;18
1303:t(x
1291:FLI1
1266:MKL1
1264:;22
1260:t(1
1252:RARA
1250:,17
1236:;21
1232:t(8
1218:t(9
1194:NPM1
1188:t(2
1168:BCL2
1166:;18
1152:;14
1148:t(8
627:3376
587:MeSH
502:PMID
459:ISBN
147:qPCR
62:news
1351:EWS
1347:WT1
1337:FUS
1309:SSX
1305:SYT
1295:EWS
1248:PML
1224:BCR
1220:ABL
1192:;5
1190:ALK
1164:IGH
1154:IGH
1150:MYC
581:Q98
577:Q97
573:Q92
569:Q90
560:ICD
492:PMC
362:XYY
45:by
1470::
1451:22
1449:,
1447:21
1445:;
1443:20
1441:;
1439:18
1437:;
1435:15
1433:;
1431:14
1429:;
1425:;
957:15
933:22
921:22
909:22
897:17
877:11
821:)
782:22
760:21
733:13
625::
601::
590::
567::
564:10
530:.
526:.
514:^
500:.
488:57
486:.
482:.
437:^
169:A
1427:9
1423:6
1406:/
1375:)
1353:)
1339:)
1325:)
1311:)
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1268:)
1254:)
1240:)
1226:)
1196:)
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1170:)
1156:)
1129:/
1028:/
1023:,
1019:/
989:Y
987:/
985:X
969:/
959:)
955:(
951:/
890:/
886:/
865:7
853:5
846:/
837:4
825:1
817:/
813:/
809:/
805:/
801:(
662:e
655:t
648:v
579:-
571:-
562:-
552:D
532:1
508:.
467:.
431:.
358:)
351:)
311:)
304:)
297:)
219:n
215:n
112:)
106:(
101:)
97:(
87:·
80:·
73:·
66:·
39:.
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