32:
295:
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
37:
33:
35:
229:
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.
185:
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
36:
286:
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.
459:
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).
271:
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).
1755:
1735:
1731:
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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).
1651:
770:
del Gaudio, Daniela; Shinawi, Marwan; Astbury, Caroline; Tayeh, Marwan K.; Deak, Kristen L.; Raca, Gordana (2020-07-01).
608:
955:
1641:
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1224:
1623:
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250:
242:. Both of these disorders can be caused by UPD or other errors in imprinting involving genes on the long arm of
214:
disorders. UPD should be suspected in an individual manifesting a recessive disorder where only one parent is a
1617:
1556:
1494:
524:
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1111:
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may include identical copies of the uniparental chromosome (isodisomy), leading to the manifestation of rare
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1508:
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1140:
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1053:
909:. Department of Medical Genetics, University of British Columbia. Archived from the original on 2002-06-17.
1751:
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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.
386:
380:
337:
Robinson WP (May 2000). "Mechanisms leading to uniparental disomy and their clinical consequences".
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143:(inherited from both grandparents) from one parent, this is called heterodisomic UPD.
90:, resulting in imprinting disorders. Additionally, isodisomy leads to large blocks of
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82:, in which a single chromosome from one parent is duplicated (a later stage
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1123:
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797:
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609:"Phenotypic spectrum in uniparental disomy: Low incidence or lack of study"
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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
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122:
91:
838:
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732:
427:
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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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1542:
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998:
203:
556:
178:(if the gene loci in question didn't cross over) or postzygotic
875:
810:
1631:
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928:
813:"Uniparental disomy as a mechanism for human genetic disease"
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anomalies. However, if the UPD-causing event happened during
126:
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1613:
1599:
1574:
1502:
1472:
1462:
942:
1458:
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UPD can occur as a random event during the formation of
109:
UPD has been found to occur in about 1 in 2,000 births.
671:
607:
Bhatt, Arpan; Liehr, Thomas; Bakshi, Sonal R. (2013).
545:
Angelman
Syndrome, Online Mendelian Inheritance in Man
300:
and short stature who carried two copies of maternal
155:
error if the gene loci in question didn't cross over.
853:
16:
Inheritance of two copies of one parent's chromosome
941:This article incorporates public domain text from
1774:
606:
70:) occurs when a person receives two copies of a
557:"OMIM Entry - # 608149 - KAGAMI-OGATA SYNDROME"
1717:46,XX testicular disorders of sex development
963:
977:
1539:Acute myeloblastic leukemia with maturation
647:. Archived from the original on 2014-02-20.
403:
336:
330:
970:
956:
30:
828:
787:
707:
689:
634:
624:
493:
435:
137:When the child receives two (different)
409:
267:, and joint contractures, among others.
234:The most well-known conditions include
1775:
580:
466:The American Journal of Human Genetics
129:development. 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 Génétique 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
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991:
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933:UPD Animations:
924:
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782:(7): 1133–1141.
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410:King DA (2013).
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56:Medical genetics
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298:cystic fibrosis
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276:All chromosomes
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131:trisomic rescue
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113:Pathophysiology
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1427:Translocations
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1037:Patau syndrome
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1001:
989:
983:
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935:UPD Animations
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858:Classification
851:
850:External links
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823:(2): 217–226.
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472:(5): 921–932.
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280:Main article:
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1596:Ewing sarcoma
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1280:Proximal 18q-
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1064:Down syndrome
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995:Duplications,
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619:(3): 131–34.
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261:Chromosome 14
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256:
255:chromosome 11
252:
248:
245:
244:chromosome 15
241:
237:
233:
232:
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228:
224:
219:
217:
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69:
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57:
54:
52:
48:
43:
28:
23:
1783:Cytogenetics
1707:
1250:
1124:TAR syndrome
1027:Tetrasomy 9p
940:
939:
885:
870:
820:
816:
806:
779:
775:
765:
743:(1): 11–22.
740:
736:
726:
681:
677:
667:
653:cite journal
616:
612:
602:
590:. 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:{{
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655:}}
651:{{
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1110:(
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964:t
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864:D
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682:9
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476::
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426::
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349::
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66:(
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