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46,XX/46,XY

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Diagnosing a chimera is particularly difficult due to the random distribution of 46,XX and 46,XY cells within the body. An organ might be made up of a mix of 46,XX and 46,XY, but may or may not also be made up entirely of one genotype. When that is the case, no abnormalities are noted and other types
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and a zygote with an XX genotype are produced. Under normal circumstances, the two resulting zygotes would have gone on to become fraternal twins. However, in 46,XX/46,XY, the two zygotes merge shortly before or after fertilization to become a two-cell zygote made up of two different nuclei. The
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being functional in the same person, the functional tissue is usually the ovarian tissue. A mix of male and female characteristics may emerge at puberty. Some individuals will experience secondary characteristics, such as breast development during puberty in a male phenotype, while others may
95:. As individuals with 46,XX/46,XY partially express the SRY gene, the normal process by which an embryo normally develops a phenotypic male or phenotypic female may be significantly affected causing variation will affect in the gonads, the reproductive tract, and the genitals. 98:
Despite this, there have been cases of completely normal sex differentiation occurring in 46,XX/46,XY individuals reported in the medical literature. 46,XX/46,XY chimerism can be identified during pregnancy by prenatal screening or in early childhood through
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Chen, CP; Chern, SR; Sheu, JC; Lin, SP; Hsu, CY; Chang, TY; Lee, CC; Wang, W; Chen, CH (2005). "Prenatal diagnosis, sonographic findings and molecular genetic analysis of a 46,XX/46,XY true hermaphrodite chimera".
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on the Y chromosome causes the undetermined gonadal tissue to undergo differentiation and eventually will become either a pair of testes or ovaries respectively. The cells of the developing testes produce
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Segmentation of skin (distinct patches of skin) has also been observed. However, this trait is not unique to 46,XX/46,XY chimerism. It has also been observed in other types of chimerism.
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Shah, V. C.; Krishna Murthy, D. S.; Roy, S.; Contractor, P. M.; Shah, A. V. (November 1982). "True hermaphrodite: 46, XX/46, XY, clinical cytogenetic and histopathological studies".
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46,XX/46,XY is associated with a wide spectrum of different physical presentations, with cases ranging from having a completely normal male or female phenotype to some cases having
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Niu, DM; Pan, CC; Lin, CY; Hwang, BT; Chung, MY (2002). "Mosaic or chimera? revisiting an old hypothesis about the cause of 46,XX/46,XY hermaphrodite".
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XY sperm. The resulting XXY zygote divides to give three cell lines: 46,XX/46,XY/47,XXY. The aneuploid 47,XXY cell line is eliminated during early
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Jarmińska-Jackowiak, T; Warenik-Szymankiewicz, A; Trzeciak, WH (1995). "Anti-Mullerian hormone. Structure and role in sexual differentiation".
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46,XX/46,XY can also be explained by a mosaic-based mechanism. A single zygote is formed from the fertilization of a normal X ovum by an
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Malan, V; Gesny, R; Morichon-Delvallez, N; Aubry, MC; Benachi, A; Sanlaville, D; Turleau, C; Bonnefont, JP; Fekete-Nihoul, C (2007).
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Binkhorst, Mathijs; de Leeuw, Nicole; Otten, Barto J. (January 2009). "A healthy, female chimera with 46,XX/46,XY karyotype".
82:, the male and female embryo is anatomically identical until week 7 of the pregnancy, when the presence or the absence of the 1725: 1594: 643:
Farag, T I; Al-Awadi, S A; Tippett, P; el-Sayed, M; Sundareshan, T S; Al-Othman, S A; el-Badramany, M H (December 1987).
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Fitzgerald, PH; Donald, RA; Kirk, RL (1979). "A true hermaphrodite dispermic chimera with 46, XX and 46, XY karyotypes".
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ovum undergoes a round of mitosis, and the subsequent daughter cells are fertilized by an X and a Y sperm, respectively.
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Gencík, A.; Genciková, A.; Hrubisko, M.; Mergancová, O. (1980). "Chimerism 46,XX/46,XY in a phenotypic female".
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of tissues need to be analyzed. Blood tests might contain both or red blood cells of different blood types.
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and some cells that express a 46,XY karyotype in a single human being. The cause of the condition lies in
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Aruna, N; Purushottam, RM; Rajangam, S (2006). "46,XX/46,XY chimerism - a case report".
205:. Variations of this mechanism include fertilization of an ovum and its first or second 123:
46,XX/46,XY is possible if there is direct observation of one or more of the following:
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genetic condition characterized by the presence of some cells that express a 46,XX
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experience deepening of the voice, secondary hair development, and gynecomastia.
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Schoenle, E (1983). "46,XX/46,XY chimerism in a phenotypically normal man".
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zygotes merge early enough that there is no risk of them developing into
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Individuals with the condition do not experience cognitive impairment.
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chimerism because it requires four gametes – two sperm and two
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Before birth, ambiguous genitalia might be observed through
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In humans, sexual dimorphism is a consequence of the
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Journal of Pediatric Endocrinology & Metabolism
1717: 781: 737: 699: 184:46,XX/46,XY is most commonly explained during 1660:46,XX testicular disorders of sex development 906: 131:midway in size between a clitoris and a penis 920: 1482:Acute myeloblastic leukemia with maturation 913: 899: 148:There have been no reported cases of both 676: 568: 394: 1718: 777: 775: 773: 771: 769: 894: 733: 731: 700:Amrani, M.; Renoirte, P. (1990). "". 546: 544: 542: 344: 342: 340: 338: 336: 334: 287: 285: 283: 281: 106: 43:with the aggregation of two distinct 490: 488: 436: 434: 390: 388: 167: 1595:Desmoplastic small-round-cell tumor 766: 188:combination of two fertilized eggs 13: 728: 539: 363:10.1111/j.1399-0004.1979.tb02032.x 331: 278: 223:46,XX/46,XY can also arise when a 59:. This is not to be confused with 14: 1742: 823: 485: 431: 385: 1168:22q11.2 distal deletion syndrome 141:Abnormal urethra opening on the 91:, causing the regression of the 1567:Dermatofibrosarcoma protuberans 1510:Acute megakaryoblastic leukemia 1438:Anaplastic large-cell lymphoma 1100:Chromosome 5q deletion syndrome 693: 248:might also be observed through 636: 585: 304: 1: 1290:Klinefelter syndrome (47,XXY) 1055:1q21.1 copy number variations 271: 172:46,XX/46,XY is an example of 1496:Acute promyelocytic leukemia 1452:Acute lymphoblastic leukemia 1144:17q12 microdeletion syndrome 1019:22q11.2 duplication syndrome 997:16p11.2 duplication syndrome 594:Indian Journal of Pediatrics 231: 159: 7: 1726:Sex chromosome aneuploidies 1063:1q21.1 duplication syndrome 950:1q21.1 duplication syndrome 649:Journal of Medical Genetics 259: 111: 76:XY sex-determination system 10: 1747: 18: 1638: 1609:Alveolar rhabdomyosarcoma 1531: 1460: 1390: 1377: 1368: 1344:XYYYY syndrome (49,XYYYY) 1310:XXXXY syndrome (49,XXXXY) 1305:XXXYY syndrome (49,XXXYY) 1267: 1249: 1235: 1044: 937: 928: 864: 831: 455:10.1515/jpem.2009.22.1.97 1084:Wolf–Hirschhorn syndrome 1059:1q21.1 deletion syndrome 922:Chromosome abnormalities 266:Sex chromosome anomalies 103:and direct observation. 19:Not to be confused with 1468:Philadelphia chromosome 1339:XYYY syndrome (48,XYYY) 1300:XXXY syndrome (48,XXXY) 1295:XXYY syndrome (48,XXYY) 1180:22q13 deletion syndrome 955:2q31.1 microduplication 752:10.1067/mpd.2002.124321 16:Human genetic condition 1327:Pentasomy X (49,XXXXX) 1259:Turner syndrome (45,X) 1140:Smith–Magenis syndrome 1136:Miller–Dieker syndrome 1071:1p36 deletion syndrome 118:ovotesticular syndrome 89:Anti-MĂĽllerian hormone 78:. In typical prenatal 1334:XYY syndrome (47,XYY) 1322:Tetrasomy X (48,XXXX) 1205:Prader–Willi syndrome 702:Chirurgie PĂ©diatrique 661:10.1136/jmg.24.12.784 570:10.1093/humrep/del480 1426:Mantle cell lymphoma 1096:Cri du chat syndrome 134:Incompletely closed 1412:Follicular lymphoma 80:sex differentiation 41:conception or utero 22:the 2002 film XX/XY 1651:Uniparental disomy 1646:Fragile X syndrome 1581:Myxoid liposarcoma 1433:t(11 CCND1:14 IGH) 1317:Trisomy X (47,XXX) 1195:genomic imprinting 975:Distal trisomy 10q 865:External resources 606:10.1007/bf02976984 509:10.1007/bf00290226 409:10.1007/bf00289485 136:urogenital opening 107:Signs and symptoms 1713: 1712: 1665:Marker chromosome 1634: 1633: 1527: 1526: 1364: 1363: 1231: 1230: 1201:Angelman syndrome 1156:DiGeorge syndrome 1124:Jacobsen syndrome 1112:Williams syndrome 888: 887: 168:Genetic mechanism 1738: 1656:XX male syndrome 1553:Synovial sarcoma 1430:Multiple myeloma 1398:Burkitt lymphoma 1388: 1387: 1375: 1374: 1278:other karyotypes 1247: 1246: 1029:Cat-eye syndrome 935: 934: 915: 908: 901: 892: 891: 829: 828: 817: 816: 779: 764: 763: 735: 726: 725: 708:(4–5): 279–283. 697: 691: 690: 680: 640: 634: 633: 600:(401): 885–890. 589: 583: 582: 572: 563:(4): 1037–1041. 548: 537: 536: 492: 483: 482: 438: 429: 428: 392: 383: 382: 346: 329: 328: 308: 302: 301: 294:J Anat Soc India 289: 138:(shallow vagina) 1746: 1745: 1741: 1740: 1739: 1737: 1736: 1735: 1716: 1715: 1714: 1709: 1670:Ring chromosome 1630: 1523: 1456: 1360: 1276: 1263: 1227: 1040: 939: 924: 919: 889: 884: 883: 860: 859: 840: 826: 821: 820: 797:10.1002/pd.1181 780: 767: 736: 729: 698: 694: 655:(12): 784–786. 641: 637: 590: 586: 549: 540: 493: 486: 439: 432: 393: 386: 347: 332: 309: 305: 290: 279: 274: 262: 234: 203:conjoined twins 170: 162: 114: 109: 101:genetic testing 93:MĂĽllerian ducts 57:fraternal twins 26: 17: 12: 11: 5: 1744: 1734: 1733: 1728: 1711: 1710: 1708: 1707: 1706: 1705: 1667: 1662: 1653: 1648: 1642: 1640: 1636: 1635: 1632: 1631: 1629: 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1193: 1067:TAR syndrome 970:Tetrasomy 9p 872: 844: 788: 785:Prenat Diagn 784: 743: 739: 705: 701: 695: 652: 648: 638: 597: 593: 587: 560: 556: 500: 496: 446: 442: 403:(1): 86–89. 400: 396: 357:(1): 89–96. 354: 350: 316: 312: 306: 297: 293: 239: 235: 185: 174:tetragametic 171: 163: 155: 147: 122: 115: 97: 73: 40: 28: 27: 21: 1356:46,XX/46,XY 1273:tetrasomies 1219:Distal 18q- 319:(1): 51–8. 313:Ginekol Pol 300:(1): 24–26. 49:blastocysts 29:46,XX/46,XY 1720:Categories 1351:45,X/46,XY 1251:Monosomies 1024:Trisomy 22 1002:Trisomy 18 992:Trisomy 16 940:including 557:Hum Reprod 351:Clin Genet 272:References 256:sampling. 254:cord blood 242:ultrasound 207:polar body 194:chromosome 1731:Chimerism 1269:Trisomies 1046:Deletions 965:Trisomy 9 960:Trisomy 8 942:trisomies 930:Autosomal 740:J Pediatr 714:0180-5738 669:0022-2593 614:0019-5456 517:0340-6717 463:0334-018X 397:Hum Genet 246:karyotype 232:Diagnosis 214:aneuploid 160:Cognitive 65:hybridism 61:mosaicism 37:karyotype 1391:Lymphoid 1383:lymphoma 1379:Leukemia 874:Orphanet 805:15966046 760:12072878 630:41204037 579:17272360 471:19344081 425:25946104 379:39280592 260:See also 198:genotype 143:perineum 112:Physical 84:SRY gene 69:intersex 33:chimeric 1619:) t (1 1486:RUNX1T1 1461:Myeloid 1282:mosaics 813:5757722 722:2083468 687:3430558 678:1050410 622:7182365 533:9117759 525:7203474 479:6074854 417:6575956 325:8522216 225:haploid 190:zygotes 129:phallus 45:zygotes 1571:COL1A1 1243:linked 879:199310 811:  803:  758:  720:  712:  685:  675:  667:  628:  620:  612:  577:  531:  523:  515:  477:  469:  461:  423:  415:  377:  371:759058 369:  323:  244:. The 150:gonads 127:Small 53:embryo 1639:Other 1625:FOXO1 1623:; 13 1617:FOXO1 1615:; 13 1601:; 22 1597:t(11 1587:; 16 1585:DDIT3 1583:t(12 1575:PDGFB 1569:t(17 1545:; 22 1541:t(11 1532:Other 1514:RBM15 1498:t(15 1490:RUNX1 1474:; 22 1414:t(14 855:Q99.0 809:S2CID 626:S2CID 529:S2CID 475:S2CID 421:S2CID 375:S2CID 31:is a 1621:PAX7 1613:PAX3 1611:t(2 1573:;22 1559:;18 1555:t(x 1543:FLI1 1518:MKL1 1516:;22 1512:t(1 1504:RARA 1502:,17 1488:;21 1484:t(8 1470:t(9 1446:NPM1 1440:t(2 1420:BCL2 1418:;18 1404:;14 1400:t(8 801:PMID 756:PMID 718:PMID 710:ISSN 683:PMID 665:ISSN 618:PMID 610:ISSN 575:PMID 521:PMID 513:ISSN 467:PMID 459:ISSN 413:PMID 367:PMID 321:PMID 1603:EWS 1599:WT1 1589:FUS 1561:SSX 1557:SYT 1547:EWS 1500:PML 1476:BCR 1472:ABL 1444:;5 1442:ALK 1416:IGH 1406:IGH 1402:MYC 846:ICD 793:doi 748:doi 744:140 673:PMC 657:doi 602:doi 565:doi 505:doi 451:doi 405:doi 359:doi 252:or 178:ova 63:or 47:or 1722:: 1703:22 1701:, 1699:21 1697:; 1695:20 1693:; 1691:18 1689:; 1687:15 1685:; 1683:14 1681:; 1677:; 1209:15 1185:22 1173:22 1161:22 1149:17 1129:11 1073:) 1034:22 1012:21 985:13 877:: 853:: 850:10 807:. 799:. 789:25 787:. 768:^ 754:. 742:. 730:^ 716:. 706:31 704:. 681:. 671:. 663:. 653:24 651:. 647:. 624:. 616:. 608:. 598:49 596:. 573:. 561:22 559:. 555:. 541:^ 527:. 519:. 511:. 501:55 499:. 487:^ 473:. 465:. 457:. 447:22 445:. 433:^ 419:. 411:. 401:64 399:. 387:^ 373:. 365:. 355:15 353:. 333:^ 317:66 315:. 298:55 296:. 280:^ 180:. 1679:9 1675:6 1658:/ 1627:) 1605:) 1591:) 1577:) 1563:) 1549:) 1520:) 1506:) 1492:) 1478:) 1448:) 1428:/ 1422:) 1408:) 1381:/ 1280:/ 1275:, 1271:/ 1241:Y 1239:/ 1237:X 1221:/ 1211:) 1207:( 1203:/ 1142:/ 1138:/ 1117:7 1105:5 1098:/ 1089:4 1077:1 1069:/ 1065:/ 1061:/ 1057:/ 1053:( 914:e 907:t 900:v 848:- 838:D 815:. 795:: 762:. 750:: 724:. 689:. 659:: 632:. 604:: 581:. 567:: 535:. 507:: 481:. 453:: 427:. 407:: 381:. 361:: 327:. 25:.

Index

the 2002 film XX/XY
chimeric
karyotype
zygotes
blastocysts
embryo
fraternal twins
mosaicism
hybridism
intersex
XY sex-determination system
sex differentiation
SRY gene
Anti-MĂĽllerian hormone
MĂĽllerian ducts
genetic testing
ovotesticular syndrome
phallus
urogenital opening
perineum
gonads
tetragametic
ova
zygotes
chromosome
genotype
conjoined twins
polar body
aneuploid
embryogenesis

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