{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T07:04:35Z","timestamp":1785135875551,"version":"3.55.0"},"reference-count":40,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T00:00:00Z","timestamp":1778716800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T00:00:00Z","timestamp":1778716800000},"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":["Developmental Neurobiology"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Copy number variations (CNVs) at the proximal 16p11.2 BP4\u2013BP5 locus are among the most well\u2010characterized genomic regions associated with neurodevelopmental disorders. We aimed to define the clinical and molecular spectrum of these CNVs in a pediatric cohort. A total of 19 patients with pathogenic or likely pathogenic 16p11.2 BP4\u2013BP5 CNVs were identified among 2200 individuals referred for chromosomal microarray analysis (prevalence: 1\/116, 0.86%). Deletions were detected in 16\/19 (84.2%) patients and duplications in 3\/19 (15.8%). Developmental delay\/intellectual disability was observed in 12\/16 (75%) deletion carriers and 3\/3 (100%) duplication carriers. Speech delay was present in 12\/16 (75%) and 3\/3 (100%), and motor delay in 6\/16 (37.5%) and 2\/3 (66.6%), respectively. Seizures were identified in 11\/16 (68.7%) deletion carriers and 1\/3 (33.3%) duplication carriers. Behavioral abnormalities were observed in 6\/16 (37.5%) and 2\/3 (66.6%), respectively. Neuroimaging data were available in 7\/19 patients, with abnormalities detected in 5\/7 (71.4%), all of whom had a history of seizures. Structural findings were heterogeneous and included ventricular asymmetry, corpus callosum thinning, and prominence of cerebrospinal fluid spaces. Additional systemic findings included endocrine abnormalities (6\/19, 31.6%), skeletal anomalies (4\/19, 21.1%), and ophthalmologic findings (3\/19, 15.8%). These findings expand the phenotypic spectrum of proximal 16p11.2 BP4\u2013BP5 CNVs and support their early consideration in patients with neurodevelopmental and neurological features, highlighting the need for multidisciplinary evaluation.<\/jats:p>","DOI":"10.1002\/dneu.70038","type":"journal-article","created":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T06:55:46Z","timestamp":1778828146000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical and Molecular Spectrum of Proximal 16p11.2 BP4\u20135 Copy Number Variations: Insights From a Pediatric Cohort"],"prefix":"10.1002","volume":"86","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4849-2078","authenticated-orcid":false,"given":"Esra","family":"Usluer","sequence":"first","affiliation":[{"name":"Department of Pediatric Genetics, Umraniye Training and Research Hospital University of Health Sciences  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8422-6637","authenticated-orcid":false,"given":"Aylin Y\u00fcksel","family":"\u00dclker","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics, Umraniye Training and Research Hospital University of Health Sciences  Istanbul Turkey"},{"name":"Department of Pediatric Genetics, Adana City Training and Research Hospital University of Health Sciences  Adana Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4153-4802","authenticated-orcid":false,"given":"\u0130brahim","family":"Kaplan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Adana City Training and Research Hospital University of Health Sciences  Adana 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