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Depending on the chromosome involved and the parental origin, UPD may result in phenotypic abnormalities due to aberrant methylation patterns or unmasking recessive conditions in isodisomic regions. UPD primarily originates from somatic rescue of a single meiotically\u2010derived aneuploidy, most commonly a trisomy. Double UPD is exceedingly rare and triple UPD has not been previously described. Here, we report two unrelated clinical cases with UPD of multiple chromosomes; an 8\u2010month\u2010old male with maternal isodisomy of chromosome 7 and paternal isodisomy of chromosome 9, and a 4\u2010week\u2010old female with mixed paternal UPD for chromosomes 4, 10, and 14. These cases also demonstrate that although extremely rare, the detection of AOH on two or more chromosomes may warrant additional clinical and laboratory investigation such as methylation and STR marker analysis, especially when involving chromosomes known to be associated with imprinting disorders.<\/jats:p>","DOI":"10.1002\/ajmg.a.63224","type":"journal-article","created":{"date-parts":[[2023,5,3]],"date-time":"2023-05-03T18:11:38Z","timestamp":1683137498000},"page":"1978-1983","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Uniparental disomy of multiple chromosomes in two cases with a complex phenotype"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5767-0484","authenticated-orcid":false,"given":"Katarzyna","family":"Polonis","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota 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