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In this report, we delineate the phenotypic spectrum associated with 1p36.3 triplications. We describe four patients with microtriplications of variable size, but with a strong phenotypic overlap, and compare them to previously described patients with an isolated triplication or duplication of this region. The 1p36.3 triplication syndrome is associated with a distinct phenotype, characterized by global developmental delay, moderate intellectual disability, seizures, behavioral problems, and specific facial dysmorphic features, including ptosis, hypertelorism, and arched eyebrows. The de novo occurrence of these microtriplications demonstrates the reduced reproductive fitness associated with this genotype, in contrast to 1p36.3 duplications which are mostly inherited and can be associated with similar facial features but with a less severe developmental phenotype. The shared triplicated region encompasses four disease\u2010related genes of which <jats:italic>GABRD<\/jats:italic> and <jats:italic>SKI<\/jats:italic> are most likely to contribute to the phenotype.<\/jats:p>","DOI":"10.1002\/ajmg.a.63222","type":"journal-article","created":{"date-parts":[[2023,5,2]],"date-time":"2023-05-02T12:23:24Z","timestamp":1683030204000},"page":"1889-1899","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Triplications of chromosome 1p36.3, including the genes <i>GABRD<\/i> and <i>SKI<\/i>, are associated with a developmental disorder and a facial gestalt"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1581-1020","authenticated-orcid":false,"given":"Elise","family":"Pelgrims","sequence":"first","affiliation":[{"name":"Department of Human Genetics Catholic University Leuven  Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sally Ann","family":"Lynch","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Children's University Hospital  Dublin Republic of Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurens","family":"Hannes","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Catholic University Leuven  Leuven Belgium"},{"name":"Center for Human Genetics University Hospitals Leuven  Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mari\u00ebtte J. 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