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Individuals with de novo or inherited duplication or triplication of the chromosomal region 1p36.22p36.21 have also been reported to have the SS phenotype with additional neurodevelopmental challenges (rarely seen in individuals with <jats:italic>TWIST2<\/jats:italic> mutations) and variable expressivity and penetrance. Triplication of this region is also associated with more severe manifestations compared to a duplication. We report a 2\u2010year\u2010old female patient with features of SS associated with a de novo 3.603\u2009Mb triplication at 1p36.23p36.22 identified on postnatal microarray analysis. Her triplication shares a 281.263\u2009kb overlap with gains at 1p36.22, reported by previous groups, delineating the shortest region of overlap (SRO) to date. This SRO involves 10 RefSeq and 4 OMIM morbid map genes and highlights the candidate dosage\u2010sensitive element(s) underlying the cardinal features of SS phenotype in individuals with gains at 1p36.<\/jats:p>","DOI":"10.1002\/ajmg.a.63175","type":"journal-article","created":{"date-parts":[[2023,3,21]],"date-time":"2023-03-21T08:59:01Z","timestamp":1679389141000},"page":"1607-1613","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["De novo triplication at 1p36.23p36.22 further refines the dosage sensitive region of overlap in Setleis syndrome (focal facial dermal dysplasia type <scp>III<\/scp>)"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7516-7927","authenticated-orcid":false,"given":"Rachel Youjin","family":"Oh","sequence":"first","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children University of 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Children University of Toronto  Toronto Ontario Canada"},{"name":"The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital University of Toronto  Toronto Ontario 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