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Uniparental disomy

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Eric Engel first proposed the concept of uniparental disomy in 1980 as both homologous chromosomes are inherited from one parent, with no contribution (for that chromosome) from the other parent. Eight years later in 1988, the first clinical case of UPD was reported and involved a girl with
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genes can also result in phenotypical anomalies. Although few imprinted genes have been identified, uniparental inheritance of an imprinted gene can result in the loss of gene function, which can lead to delayed development, intellectual disability, or other medical problems.
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A meiosis I error can result in isodisomic UPD if the gene loci in question crossed over, for example, a distal isodisomy would be due to duplicated gene loci from the maternal grandmother that crossed over and due to an error during meiosis I, ended up in the same
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Genome wide UPD, also called uniparental diploidy, is when all chromosomes are inherited from one parent. Only in mosaic form can this phenomenon be compatible with life. As of 2017, there have only been 18 reported cases of genome wide UPD.
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Nakka, Priyanka; Smith, Samuel Pattillo; O'Donnell-Luria, Anne H.; McManus, Kimberly F.; Agee, Michelle; Auton, Adam; Bell, Robert K.; Bryc, Katarzyna; Elson, Sarah L.; Fontanillas, Pierre; Furlotte, Nicholas A. (2019-11-07).
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UPD has rarely been studied prospectively, with most reports focusing on either known conditions or incidental findings. It has been proposed that the incidence may not be as low as believed, rather it may be under-reported.
871: 74:, or of part of a chromosome, from one parent and no copy from the other. UPD can be the result of heterodisomy, in which a pair of non-identical chromosomes are inherited from one parent (an earlier stage 34: 1011: 672:
Bens, Susanne; Luedeke, Manuel; Richter, Tanja; Graf, Melanie; Kolarova, Julia; Barbi, Gotthold; Lato, Krisztian; Barth, Thomas F.; Siebert, Reiner (2017).
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error). Uniparental disomy may have clinical relevance for several reasons. For example, either isodisomy or heterodisomy can disrupt parent-specific
412:"A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders" 772:"Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)" 1538: 304:. Since 1991, out of the 47 possible disomies, 29 have been identified among individuals ascertained for medical reasons. This includes 462:"Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General Population" 350: 962: 906: 674:"Mosaic genome-wide maternal isodiploidy: an extreme form of imprinting disorder presenting as prenatal diagnostic challenge" 811:
Spence JE, Perciaccante RG, Greig GM, Willard HF, Ledbetter DH, Hejtmancik JF, Pollack MS, O'Brien WE, Beaudet AL (1988).
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del Gaudio, Daniela; Shinawi, Marwan; Astbury, Caroline; Tayeh, Marwan K.; Deak, Kristen L.; Raca, Gordana (2020-07-01).
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disorders. UPD should be suspected in an individual manifesting a recessive disorder where only one parent is a
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may include identical copies of the uniparental chromosome (isodisomy), leading to the manifestation of rare
1560: 1552: 1508: 1200: 1140: 1075: 1053: 909:. Department of Medical Genetics, University of British Columbia. Archived from the original on 2002-06-17. 1751: 1739: 1119: 1006: 733:"A new genetic concept: the uniparental disomy and its potential effect, the isodisomy (author's transl)" 1498: 1196: 1192: 1665: 1627: 1426: 1261: 235: 189:
A meiosis II error can result in heterodisomy UPD if the gene loci crossed over in a similar fashion.
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Robinson WP (May 2000). "Mechanisms leading to uniparental disomy and their clinical consequences".
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is also known to cause particular symptoms such as skeletal abnormalities,
253:, are associated with abnormalities of imprinted genes on the short arm of 199: 152: 148: 144: 122: 91: 838: 756: 732: 427: 1412: 1383: 1378: 1275: 583:"Chromosome 14 uniparental disomy syndrome information Diseases Database" 351:
10.1002/(SICI)1521-1878(200005)22:5<452::AID-BIES7>3.0.CO;2-K
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When the child receives two (identical) replica copies of a single
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anomalies. However, if the UPD-causing event happened during
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UPD can occur as a random event during the formation of
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UPD has been found to occur in about 1 in 2,000 births.
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Bhatt, Arpan; Liehr, Thomas; Bakshi, Sonal R. (2013).
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Angelman Syndrome, Online Mendelian Inheritance in Man
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and short stature who carried two copies of maternal
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error if the gene loci in question didn't cross over.
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Inheritance of two copies of one parent's chromosome
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It can also occur during 94:, which may lead to the uncovering of 951: 943:The U.S. National Library of Medicine 730: 198:Most occurrences of UPD result in no 581:Duncan, Malcolm (1 September 2020). 519: 517: 515: 513: 166:, this is called an isodisomic UPD. 98:genes, a similar phenomenon seen in 1652:Desmoplastic small-round-cell tumor 538: 13: 817:American Journal of Human Genetics 275: 112: 45:Animation of uniparental isodisomy 14: 1794: 849: 510: 1225:22q11.2 distal deletion syndrome 613:Indian Journal of Human Genetics 1624:Dermatofibrosarcoma protuberans 1567:Acute megakaryoblastic leukemia 1495:Anaplastic large-cell lymphoma 1157:Chromosome 5q deletion syndrome 804: 763: 724: 665: 600: 574: 549: 452: 373: 1: 1347:Klinefelter syndrome (47,XXY) 1112:1q21.1 copy number variations 929:Cases with uniparental disomy 525:"Meiosis: Uniparental Disomy" 323: 1553:Acute promyelocytic leukemia 1509:Acute lymphoblastic leukemia 1201:17q12 microdeletion syndrome 1076:22q11.2 duplication syndrome 1054:16p11.2 duplication syndrome 737:Journal de GĂ©nĂ©tique Humaine 385:. Garland Science. pp.  193: 7: 1120:1q21.1 duplication syndrome 1007:1q21.1 duplication syndrome 311: 308:2, 5–11, 13–16, 21 and 22. 251:Beckwith–Wiedemann syndrome 10: 1799: 478:10.1016/j.ajhg.2019.09.016 382:Human Molecular Genetics 3 290: 279: 249:Other conditions, such as 1695: 1666:Alveolar rhabdomyosarcoma 1588: 1517: 1447: 1434: 1425: 1401:XYYYY syndrome (49,XYYYY) 1367:XXXXY syndrome (49,XXXXY) 1362:XXXYY syndrome (49,XXXYY) 1324: 1306: 1292: 1101: 994: 985: 919:: CS1 maint: unfit URL ( 857: 789:10.1038/s41436-020-0782-9 691:10.1186/s13148-017-0410-y 657:: CS1 maint: unfit URL ( 49: 44: 29: 24: 1141:Wolf–Hirschhorn syndrome 1116:1q21.1 deletion syndrome 979:Chromosome abnormalities 731:Engel, E. (1980-03-01). 626:10.4103/0971-6866.120819 587:www.diseasesdatabase.com 1525:Philadelphia chromosome 1396:XYYY syndrome (48,XYYY) 1357:XXXY syndrome (48,XXXY) 1352:XXYY syndrome (48,XXYY) 1237:22q13 deletion syndrome 1012:2q31.1 microduplication 265:intellectual disability 180:chromosomal duplication 125:or may happen in early 1384:Pentasomy X (49,XXXXX) 1316:Turner syndrome (45,X) 1197:Smith–Magenis syndrome 1193:Miller–Dieker syndrome 1128:1p36 deletion syndrome 140:homologous chromosomes 1391:XYY syndrome (47,XYY) 1379:Tetrasomy X (48,XXXX) 1262:Prader–Willi syndrome 428:10.1101/gr.160465.113 236:Prader–Willi syndrome 174:) indicates either a 1483:Mantle cell lymphoma 1153:Cri du chat syndrome 907:"Uniparental disomy" 776:Genetics in Medicine 678:Clinical Epigenetics 1469:Follicular lymphoma 1708:Uniparental disomy 1703:Fragile X syndrome 1638:Myxoid liposarcoma 1490:t(11 CCND1:14 IGH) 1374:Trisomy X (47,XXX) 1252:genomic imprinting 1032:Distal trisomy 10q 88:genomic imprinting 64:Uniparental disomy 25:Uniparental disomy 1770: 1769: 1722:Marker chromosome 1691: 1690: 1584: 1583: 1421: 1420: 1288: 1287: 1258:Angelman syndrome 1213:DiGeorge syndrome 1181:Jacobsen syndrome 1169:Williams syndrome 901: 900: 240:Angelman syndrome 61: 60: 38: 19:Medical condition 1790: 1713:XX male syndrome 1610:Synovial sarcoma 1487:Multiple myeloma 1455:Burkitt lymphoma 1445: 1444: 1432: 1431: 1335:other karyotypes 1304: 1303: 1086:Cat-eye syndrome 992: 991: 972: 965: 958: 949: 948: 933:UPD Animations: 924: 918: 910: 855: 854: 843: 842: 832: 808: 802: 801: 791: 782:(7): 1133–1141. 767: 761: 760: 728: 722: 721: 711: 693: 669: 663: 662: 656: 648: 638: 628: 604: 598: 597: 595: 593: 578: 572: 571: 569: 567: 553: 547: 542: 536: 535: 533: 531: 521: 508: 507: 497: 456: 450: 449: 439: 410:King DA (2013). 407: 401: 400: 377: 371: 370: 334: 56:Medical genetics 40: 39: 22: 21: 1798: 1797: 1793: 1792: 1791: 1789: 1788: 1787: 1773: 1772: 1771: 1766: 1727:Ring chromosome 1687: 1580: 1513: 1417: 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Retrieved 586: 576: 564:. Retrieved 560: 551: 540: 528:. Retrieved 469: 465: 454: 419: 415: 405: 381: 375: 345:(5): 452–9. 342: 338: 332: 302:chromosome 7 294: 285: 270: 221:Uniparental 220: 200:phenotypical 197: 159: 149:heterozygous 145:Heterodisomy 138: 116: 108: 102:children of 92:homozygosity 67: 63: 62: 1413:46,XX/46,XY 1330:tetrasomies 1276:Distal 18q- 592:1 September 566:1 September 530:29 February 306:chromosomes 223:inheritance 123:sperm cells 1408:45,X/46,XY 1308:Monosomies 1081:Trisomy 22 1059:Trisomy 18 1049:Trisomy 16 997:including 927:T. Liehr: 324:References 318:Aneuploidy 176:meiosis II 172:homozygous 164:chromosome 106:partners. 84:meiosis II 78:error) or 72:chromosome 1326:Trisomies 1103:Deletions 1022:Trisomy 9 1017:Trisomy 8 999:trisomies 987:Autosomal 749:0021-7743 700:1868-7083 486:0002-9297 339:BioEssays 282:Isodisomy 227:imprinted 212:recessive 194:Phenotype 168:Isodisomy 160:homologue 153:meiosis I 119:egg cells 96:recessive 80:isodisomy 76:meiosis I 51:Specialty 1777:Category 1448:Lymphoid 1440:lymphoma 1436:Leukemia 915:cite web 798:32296163 718:29046733 645:24339543 561:omim.org 504:31607426 446:24356988 367:19446912 359:10797485 312:See also 208:genotype 206:II, the 1676:) t (1 1543:RUNX1T1 1518:Myeloid 1339:mosaics 892:D024182 839:2893543 830:1715272 757:7400781 709:5640928 684:: 111. 636:3841555 495:6848996 437:3975066 291:History 216:carrier 204:meiosis 186:gamete. 1628:COL1A1 1300:linked 837:  827:  796:  755:  747:  716:  706:  698:  643:  633:  502:  492:  484:  444:  434:  393:  365:  357:  100:inbred 1696:Other 1682:FOXO1 1680:; 13 1674:FOXO1 1672:; 13 1658:; 22 1654:t(11 1644:; 16 1642:DDIT3 1640:t(12 1632:PDGFB 1626:t(17 1602:; 22 1598:t(11 1589:Other 1571:RBM15 1555:t(15 1547:RUNX1 1531:; 22 1471:t(14 881:Q99.8 363:S2CID 162:of a 127:fetal 1678:PAX7 1670:PAX3 1668:t(2 1630:;22 1616:;18 1612:t(x 1600:FLI1 1575:MKL1 1573:;22 1569:t(1 1561:RARA 1559:,17 1545:;21 1541:t(8 1527:t(9 1503:NPM1 1497:t(2 1477:BCL2 1475:;18 1461:;14 1457:t(8 921:link 887:MeSH 835:PMID 794:PMID 753:PMID 745:ISSN 714:PMID 696:ISSN 659:link 641:PMID 594:2020 568:2020 532:2016 500:PMID 482:ISSN 442:PMID 391:ISBN 355:PMID 238:and 1660:EWS 1656:WT1 1646:FUS 1618:SSX 1614:SYT 1604:EWS 1557:PML 1533:BCR 1529:ABL 1501:;5 1499:ALK 1473:IGH 1463:IGH 1459:MYC 872:ICD 825:PMC 784:doi 704:PMC 686:doi 631:PMC 621:doi 490:PMC 474:doi 470:105 432:PMC 424:doi 347:doi 225:of 121:or 68:UPD 1779:: 1760:22 1758:, 1756:21 1754:; 1752:20 1750:; 1748:18 1746:; 1744:15 1742:; 1740:14 1738:; 1734:; 1266:15 1242:22 1230:22 1218:22 1206:17 1186:11 1130:) 1091:22 1069:21 1042:13 917:}} 913:{{ 890:: 879:: 876:10 833:. 821:42 819:. 815:. 792:. 780:22 778:. 774:. 751:. 741:28 739:. 735:. 712:. 702:. 694:. 680:. 676:. 655:}} 651:{{ 639:. 629:. 617:19 615:. 611:. 585:. 559:. 512:^ 498:. 488:. 480:. 468:. 464:. 440:. 430:. 420:24 418:. 414:. 389:. 387:58 361:. 353:. 343:22 341:. 218:. 133:. 1736:9 1732:6 1715:/ 1684:) 1662:) 1648:) 1634:) 1620:) 1606:) 1577:) 1563:) 1549:) 1535:) 1505:) 1485:/ 1479:) 1465:) 1438:/ 1337:/ 1332:, 1328:/ 1298:Y 1296:/ 1294:X 1278:/ 1268:) 1264:( 1260:/ 1199:/ 1195:/ 1174:7 1162:5 1155:/ 1146:4 1134:1 1126:/ 1122:/ 1118:/ 1114:/ 1110:( 971:e 964:t 957:v 923:) 874:- 864:D 841:. 800:. 786:: 759:. 720:. 688:: 682:9 661:) 623:: 596:. 570:. 534:. 506:. 476:: 448:. 426:: 399:. 369:. 349:: 257:. 246:. 182:. 170:( 147:( 66:(

Index

Specialty
Medical genetics
chromosome
meiosis I
isodisomy
meiosis II
genomic imprinting
homozygosity
recessive
inbred
consanguineous
egg cells
sperm cells
fetal
trisomic rescue
homologous chromosomes
Heterodisomy
heterozygous
meiosis I
chromosome
Isodisomy
homozygous
meiosis II
chromosomal duplication
phenotypical
meiosis
genotype
recessive
carrier
inheritance

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