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Germline duplication of 14q22.3 including <jats:italic>OTX2<\/jats:italic> is a rare condition reported in patients with combined pituitary hormone deficiency, oculo\u2010auriculo\u2010vertebral spectrum, and hemifacial microsomia. There has been one previously published case of a patient carrying a 14q22.3 duplication that included <jats:italic>OTX2<\/jats:italic> with hemifacial microsomia who also developed medulloblastoma. Here, we present a case of a 6\u2010year\u2010old girl with a history of delayed development who was diagnosed with medulloblastoma. Genetic evaluations revealed that she inherited a germline duplication of 14q22.3, which included <jats:italic>OTX2<\/jats:italic>. This genetic alteration was passed down from her mother, who also had a history of delayed development. Results from other genetic testing, including exome sequencing, fragile X syndrome, and mtDNA testing, were negative\/normal. This is the second report of a 14q22.3 duplication that included <jats:italic>OTX2<\/jats:italic> in a patient with medulloblastoma. Further studies are necessary to establish a clear association.<\/jats:p>","DOI":"10.1002\/ajmg.a.63604","type":"journal-article","created":{"date-parts":[[2024,3,21]],"date-time":"2024-03-21T12:40:38Z","timestamp":1711024838000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["14q22.3 duplication including <scp><i>OTX2<\/i><\/scp> in a girl with medulloblastoma: A case report with literature review"],"prefix":"10.1002","volume":"194","author":[{"given":"Claire","family":"Blake","sequence":"first","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kimmie","family":"Widmeyer","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio 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USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natasha","family":"Pillay\u2010Smiley","sequence":"additional","affiliation":[{"name":"Cancer and Blood Disease Institute, The Cure Starts Now Foundation Brain Tumor Center, Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"},{"name":"Department of Pediatrics University of Cincinnati College of Medicine  Cincinnati Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9560-0652","authenticated-orcid":false,"given":"Sun Young","family":"Kim","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"},{"name":"Department of Pediatrics University of Cincinnati College of Medicine  Cincinnati Ohio 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expression contributes to proliferation and progression in Myc\u2010amplified medulloblastoma","volume":"7","author":"Lu Y.","year":"2017","journal-title":"American Journal of Cancer Research"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1152\/physiolgenomics.1999.1.2.83"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31335"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12920-018-0405-3"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.128.13.2461"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0959-437x(02)00318-0"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/1878-0261.12177"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2008-1219"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0096788"}],"container-title":["American Journal of Medical Genetics Part 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