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Recent studies indicate that UPD is rare in an apparently healthy population and also rare in spontaneous abortion tissues. The most common type of UPD is a maternal heterodisomy (both maternal allele sets present). Isodisomy (a duplicated single set of alleles) or segmental loss of heterozygosity is sometimes encountered in SNP\u2010based microarray referrals. Decisions regarding the most appropriate follow\u2010up testing should consider the possibility of consanguinity (that will generally involve multiple regions), an imprinted gene disorder (chromosomes 6, 7, 11, 14, 15, 20), expression of an autosomal recessive disorder, and an occult aneuploid cell line that may be confined to the placenta. Upd(16)mat, per se, does not appear to be associated with an abnormal phenotype. UPD provides an insight into the history of early chromosome segregation error and understanding the rates and fate of these events are of key importance in the provision of fertility management and prenatal healthcare.<\/jats:p>","DOI":"10.1002\/pd.5837","type":"journal-article","created":{"date-parts":[[2020,11,12]],"date-time":"2020-11-12T07:47:43Z","timestamp":1605167263000},"page":"564-572","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":94,"title":["Uniparental disomy: Origin, frequency, and clinical significance"],"prefix":"10.1002","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7917-6946","authenticated-orcid":false,"given":"Peter","family":"Benn","sequence":"first","affiliation":[{"name":"Department of Genetics and Genome Sciences UConn Health  Farmington Connecticut USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,3,5]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm.1924"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1005601"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2012.06.013"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320060207"},{"issue":"2","key":"e_1_2_6_6_1","first-page":"217","article-title":"Uniparental disomy as a mechanism for human genetic disease","volume":"42","author":"Spence JE","year":"1988","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.08.014"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3306"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tcb.2016.09.002"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddw023"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mrrev.2017.02.002"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00441-015-2305-6"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms2249"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1517628112"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2014.09.006"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2011.11.034"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2013.08.051"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1998.tb02692.x"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981012)79:5<366::AID-AJMG7>3.0.CO;2-H"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200741"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0000000000000325"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.20412"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.20383"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.09.016"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-020-0782-9"},{"issue":"4","key":"e_1_2_6_26_1","first-page":"867","article-title":"Recombination and maternal age\u2010dependent nondisjunction: molecular studies of trisomy 16","volume":"57","author":"Hassold T","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990507)84:1<34::AID-AJMG8>3.0.CO;2-7"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12958"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980901)79:2<121::AID-AJMG8>3.0.CO;2-T"},{"key":"e_1_2_6_30_1","unstructured":"LierT. 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