{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T13:40:09Z","timestamp":1792676409378,"version":"4.5.0"},"reference-count":108,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T00:00:00Z","timestamp":1792627200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T00:00:00Z","timestamp":1792627200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Chromosome 15q11\u2013q13 duplication syndrome (Dup15q) is a rare copy\u2010number disorder with marked phenotypic heterogeneity. This scoping review characterized its clinical spectrum and genotype\u2013phenotype correlations. Following PRISMA\u2010ScR and Joanna Briggs Institute methodology, PubMed, Web of Science, and Google Scholar were searched through December 1, 2025. Ninety\u2010two studies comprising 395 molecularly confirmed patients were included. Cohen's kappa was 0.73, indicating substantial inter\u2010reviewer agreement. Neurodevelopmental manifestations predominated, particularly developmental delay, intellectual disability, autism spectrum disorder, epilepsy, hypotonia, motor and language impairment, and psychobehavioral abnormalities. Compared with interstitial duplications, supernumerary marker chromosomes were associated with higher odds of epilepsy (OR\u2009=\u20097.14, 95%,\u00a0CI\u2009=\u20094.39\u201311.61;\n                    <jats:italic>p<\/jats:italic>\n                    &lt; 0.001), intellectual disability (OR\u2009=\u20092.20, 95%, CI\u2009=\u20091.34\u20133.66;\n                    <jats:italic>p<\/jats:italic>\n                    = 0.002), and motor delay (OR\u2009=\u20091.70, 95%, CI\u2009=\u20091.02\u20132.84;\n                    <jats:italic>p<\/jats:italic>\n                    = 0.040), but lower odds of psychobehavioral manifestations (OR\u2009=\u20090.21, 95%, CI\u2009=\u20090.13\u20130.35,\n                    <jats:italic>p<\/jats:italic>\n                    &lt; 0.001). Among 186 patients with reported parental origin, 155 (83%) were maternal and 31 (17%) paternal. Maternal duplications showed higher odds of seizures (OR\u2009=\u20094.26, 95%, CI\u2009=\u20091.42\u201312.79;\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.006) and motor delay (OR\u2009=\u20095.93, 95%, CI\u2009=\u20091.35\u201325.90;\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.006) than paternal duplications. Co\u2010occurrence analysis identified global developmental delay as the principal phenotypic hub. These findings refine the clinical spectrum of Dup15q and highlight associations with cytogenetic subtype and parental origin.\n                  <\/jats:p>","DOI":"10.1111\/cge.70269","type":"journal-article","created":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T13:01:24Z","timestamp":1792674084000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical Spectrum of Chromosome 15q11\u2013q13 Duplication Syndrome: A Scoping Review of Neurodevelopmental and Multisystem Manifestations"],"prefix":"10.1111","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-5886-2442","authenticated-orcid":false,"given":"Cort\u00e9s\u2010Cruz Jorge","family":"Baruch","sequence":"first","affiliation":[{"name":"Laboratorio de Citogen\u00e9tica Molecular Centro de Investigaci\u00f3n Biom\u00e9dica del Noreste, Instituto Mexicano del Seguro Social  Monterrey Nuevo Le\u00f3n M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-6891-1998","authenticated-orcid":false,"given":"Cerda\u2010Mireles Odette","family":"Carolina","sequence":"additional","affiliation":[{"name":"Laboratorio de Citogen\u00e9tica Molecular Centro de Investigaci\u00f3n Biom\u00e9dica del Noreste, Instituto Mexicano del Seguro Social  Monterrey Nuevo Le\u00f3n M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5973-3530","authenticated-orcid":false,"given":"S\u00e1nchez\u2010S\u00e1nchez Luz","family":"Mar\u00eda","sequence":"additional","affiliation":[{"name":"Departamento de Pediatr\u00eda y Neonatolog\u00eda Hospital y Centro M\u00e9dico San Jorge  Monterrey Nuevo Le\u00f3n M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8330-9710","authenticated-orcid":false,"given":"De la Fuente\u2010Cortez Beatriz","family":"Elizabeth","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica, Facultad de Medicina Universidad Aut\u00f3noma de Nuevo Le\u00f3n  Monterrey Nuevo Le\u00f3n M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Garc\u00eda\u2010Vielma","family":"Catalina","sequence":"additional","affiliation":[{"name":"Laboratorio de Citogen\u00e9tica Molecular Centro de Investigaci\u00f3n Biom\u00e9dica del Noreste, Instituto Mexicano del Seguro Social  Monterrey Nuevo Le\u00f3n M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,10,22]]},"reference":[{"issue":"1","key":"e_1_2_12_2_1","first-page":"1","article-title":"Variation Analysis of the Number of Copies and Methylene Patterns in Region 15q11\u2010q13","volume":"78","author":"Laurito S.","year":"2018","journal-title":"Medicina (Mexico)"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2013.10.008"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopsych.2009.01.025"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1155\/2021\/6662054"},{"key":"e_1_2_12_6_1","volume-title":"PRISMA Extension for Scoping Reviews (PRISMA\u2010ScR): Checklist and Explanation","year":"2026"},{"key":"e_1_2_12_7_1","unstructured":"10. 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