{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T06:34:37Z","timestamp":1787726077836,"version":"build-2784847793"},"reference-count":50,"publisher":"SAGE Publications","issue":"9","license":[{"start":{"date-parts":[[2025,8,26]],"date-time":"2025-08-26T00:00:00Z","timestamp":1756166400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2025,10]]},"abstract":"<jats:p>\n                    15q11.2 BP1-BP2 copy number variants involving\n                    <jats:italic toggle=\"yes\">NIPA1<\/jats:italic>\n                    ,\n                    <jats:italic toggle=\"yes\">NIPA2<\/jats:italic>\n                    ,\n                    <jats:italic toggle=\"yes\">CYFIP1<\/jats:italic>\n                    , and\n                    <jats:italic toggle=\"yes\">TUBGCP5<\/jats:italic>\n                    genes may not warrant a clinical outcome because of the phenotypic variability and low penetrance. The study aims to provide a greater understanding of the phenotypic diversity associated with these copy number variants. We conducted a retrospective analysis of 37 pediatric patients with deletions or duplications in 15q11.2 BP1-BP2 region, and compared the results systemically with the previous literature. Of the 37 patients, 67.6% had microduplications and 32.4% had microdeletions. The mean copy number variant size was 482\u2009\u00b1\u2009157 kb. Patients had a variety of phenotypes including neurodevelopmental delay, hypotonia, speech impairment, intellectual and learning disability, behavioral and psychiatric symptoms, epilepsy and seizures, neuroimaging abnormalities, and dysmorphism. These findings, in combination with previous reports, confirm that copy number variants in this region are linked to phenotypes ranging from normal to severe neurodevelopmental and neuropsychiatric features. Our data also confirm that microcephaly is a particularly prevalent phenotype in patients with microdeletions, rather than in those with microduplications.\n                  <\/jats:p>","DOI":"10.1177\/08830738251366862","type":"journal-article","created":{"date-parts":[[2025,8,26]],"date-time":"2025-08-26T13:42:54Z","timestamp":1756215774000},"page":"784-793","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["Beyond the Copy Number Differences: The Phenotypic Diversity of Children With 15q11.2 Microdeletions and Microduplications"],"prefix":"10.1177","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5887-6468","authenticated-orcid":false,"given":"Gunce","family":"Basarir","sequence":"first","affiliation":[{"name":"University of Health Sciences, Tepecik Training and Research Hospital"},{"name":"Haseki Training and Research Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3172-3370","authenticated-orcid":false,"given":"Irmak","family":"Erdogan","sequence":"additional","affiliation":[{"name":"University of Health Sciences, Tepecik Training and Research Hospital"},{"name":"Department of Pediatric Neurology, Sirnak State Hospital, Sirnak, Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2654-3698","authenticated-orcid":false,"given":"Berk","family":"Ozyilmaz","sequence":"additional","affiliation":[{"name":"University of Health Sciences, Tepecik Training and Research Hospital"},{"name":"Department of Medical Genetics, University of Health Sciences, Izmir Bayrakli City Hospital, \u0130zmir, Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3223-5408","authenticated-orcid":false,"given":"Pinar","family":"Gencpinar","sequence":"additional","affiliation":[{"name":"Izmir Katip Celebi University"},{"name":"Department of Pediatric Neurology, Izmir Bayrakli City Hospital, \u0130zmir, Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5902-3501","authenticated-orcid":false,"given":"Nihal Olgac","family":"Dundar","sequence":"additional","affiliation":[{"name":"Izmir Katip Celebi University"},{"name":"Department of Pediatric Neurology, Izmir Bayrakli City Hospital, \u0130zmir, Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2025,8,26]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcp.2015.06.012"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1109"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2010.03.011"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.113.3.565"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-011-0970-4"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.32480"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M610314200"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-1331.2011.03359.x"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-020-00619-0"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-012-1149-3"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1097\/01.DBP.0000267563.18952.c9"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36209"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.1097\/DBP.0b013e31826052ae"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.03.010"},{"key":"e_1_3_2_16_2","doi-asserted-by":"publisher","DOI":"10.1159\/000097433"},{"key":"e_1_3_2_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.31055"},{"key":"e_1_3_2_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2015.01.002"},{"key":"e_1_3_2_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2010.12.008"},{"key":"e_1_3_2_20_2","doi-asserted-by":"publisher","DOI":"10.1159\/000468192"},{"key":"e_1_3_2_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpsychires.2019.01.021"},{"key":"e_1_3_2_22_2","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-018-0543-7"},{"key":"e_1_3_2_23_2","doi-asserted-by":"publisher","DOI":"10.1038\/tp.2017.77"},{"key":"e_1_3_2_24_2","doi-asserted-by":"publisher","DOI":"10.1001\/jamapsychiatry.2021.4080"},{"issue":"2","key":"e_1_3_2_25_2","first-page":"116","article-title":"Genetic and morphological features of human iPSC-derived neurons with chromosome 15q11.2 (BP1-BP2) deletions","volume":"1","author":"Das DK","year":"2015","unstructured":"Das DK, Tapias V, D'Aiuto L, et al. 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