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Additionally, another recognized consequence of iUPD is the unmasking of autosomal recessive disorders. However, reports of recessive disorders resulting from iUPD15 remain scarce in the literature. Here, we report a Brazilian male patient with paternal iUPD15 who presented with clinical features consistent with AS and bilateral microphthalmia, the latter attributable to a novel homozygous likely pathogenic variant in\n                    <jats:italic>ALDH1A3<\/jats:italic>\n                    (NM_000693.4:c.3G&gt;A:p.(Met1?)) unmasked by the isodisomy. Comprehensive molecular investigation, including chromosomal microarray, microsatellite marker analysis, and whole exome sequencing, was essential to elucidate this diagnosis. To the best of our knowledge, this is the first case reported of Angelman syndrome and\n                    <jats:italic>ALDH1A3<\/jats:italic>\n                    \u2010related microphthalmia due to paternal iUPD15. This case highlights the importance of considering UPD in the context of imprinting disorders as well as a mechanism for unveiling recessive diseases.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70305","type":"journal-article","created":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T11:40:22Z","timestamp":1789731622000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["First Report of Uniparental Isodisomy of Chromosome 15 Revealing Angelman Syndrome and Microphthalmia Associated With a Novel Homozygous\n                    <scp>\n                      <i>ALDH1A3<\/i>\n                    <\/scp>\n                    Variant"],"prefix":"10.1002","author":[{"given":"Gabriela Rold\u00e3o","family":"Correia\u2010Costa","sequence":"first","affiliation":[{"name":"Department of Medical Genetics and Genomic Medicine, School of Medical Sciences Universidade Estadual de Campinas (UNICAMP)  Campinas S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joana Rosa Marques","family":"Prota","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Genomic Medicine, School of Medical Sciences Universidade Estadual de Campinas (UNICAMP)  Campinas S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonia Paula","family":"Marques\u2010de\u2010Faria","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Genomic Medicine, School of Medical Sciences Universidade Estadual de Campinas (UNICAMP)  Campinas S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5148-3063","authenticated-orcid":false,"given":"Carlos Eduardo","family":"Steiner","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Genomic Medicine, School of Medical Sciences Universidade Estadual de Campinas (UNICAMP)  Campinas S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4027-8341","authenticated-orcid":false,"given":"T\u00e1rsis Paiva","family":"Vieira","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Genomic Medicine, School of Medical Sciences Universidade Estadual de Campinas (UNICAMP)  Campinas S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,9,18]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12184"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320510109"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2016.133"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320060207"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.12.003"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545\u2010009\u20109014\u20109"},{"key":"e_1_2_8_8_1","volume-title":"Chromosome Abnormalities and Genetic Counseling","author":"Gardner R. 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