{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T10:01:30Z","timestamp":1780308090418,"version":"3.54.0"},"reference-count":36,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2026,2,23]],"date-time":"2026-02-23T00:00:00Z","timestamp":1771804800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,2,23]],"date-time":"2026-02-23T00:00:00Z","timestamp":1771804800000},"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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>To enhance the diagnosis, management, and monitoring of Chinese children with chromosome 15q11\u2010q13 duplication syndrome (dup15q) by analyzing their genetic and clinical characteristics. In this study, one Chinese prenatal case and 21 postnatal cases genetically diagnosed with dup15q syndrome underwent a detailed assessment of genetic and clinical characteristics. Most patients had normal prenatal (12\/22, 54.5%) and neonatal (14\/21, 66.7%) histories. Most symptoms were developmental delays (motor: 18\/21, 85.7%; cognition: 13\/21, 61.9%; language: 12\/21, 57.1%). Other common features included autism spectrum disorder (ASD)\u2010related behaviors (10\/21, 47.6%) and seizures (7\/21, 33.3%). Trisomy microduplications accounted for 54.5% (12\/22), and tetrasomy microduplications accounted for 40.9% (9\/22) of cases. We compared the phenotypic differences between the two groups using a composite score. One rare case of paternal duplication presented with early\u2010onset obesity and tapered fingers resembling Prader\u2013Willi syndrome (PWS). In addition, non\u2010invasive prenatal testing (NIPT) detected int dup(15) in prenatal cases. Some patients with epilepsy were well controlled without anti\u2010seizure drugs or monotherapy (3\/7, 42.8%), while others had refractory epilepsy. Chinese children with dup15q exhibited high clinical heterogeneity, including multisystem developmental delays, ASD\u2010related symptoms, and seizures. Phenotypic severity is influenced by multiple factors. NIPT may show positive findings, and chromosomal microarray analysis (CMA) combined with methylation analysis is important.<\/jats:p>","DOI":"10.1002\/ajmg.a.70100","type":"journal-article","created":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T08:09:37Z","timestamp":1772957377000},"page":"1498-1514","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic and Clinical Characteristics of Chromosome 15q11\u2010q13 Duplication Syndrome in Chinese Children"],"prefix":"10.1002","volume":"200","author":[{"given":"Ruo\u2010Yan","family":"Liu","sequence":"first","affiliation":[{"name":"Department of Endocrinology Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Diseases  Hangzhou Zhejiang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu\u2010jia","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Diseases  Hangzhou Zhejiang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4667-3636","authenticated-orcid":false,"given":"Chao\u2010Chun","family":"Zou","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Diseases  Hangzhou Zhejiang China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,2,23]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2013.10.008"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36663"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41398\u2010020\u201001034\u20107"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/s11689\u2010018\u20109242\u20100"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750\u20101172\u20103\u201030"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes15101304"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2016.133"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms24054271"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2010.03.011"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12530"},{"issue":"4","key":"e_1_2_13_12_1","first-page":"928","article-title":"Autism or Atypical Autism in Maternally but Not Paternally Derived Proximal 15q Duplication","volume":"60","author":"Cook E. 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