{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T08:54:00Z","timestamp":1770886440704,"version":"3.50.1"},"reference-count":11,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2022,11,1]],"date-time":"2022-11-01T00:00:00Z","timestamp":1667260800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,11,1]],"date-time":"2022-11-01T00:00:00Z","timestamp":1667260800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,9,15]],"date-time":"2022-09-15T00:00:00Z","timestamp":1663200000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004861","name":"Mackay Memorial Hospital","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004861","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004663","name":"Ministry of Science and Technology, Taiwan","doi-asserted-by":"publisher","award":["MMH-E-111-04"],"award-info":[{"award-number":["MMH-E-111-04"]}],"id":[{"id":"10.13039\/501100004663","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Taiwanese Journal of Obstetrics and Gynecology"],"published-print":{"date-parts":[[2022,11]]},"DOI":"10.1016\/j.tjog.2022.08.007","type":"journal-article","created":{"date-parts":[[2022,11,22]],"date-time":"2022-11-22T02:48:50Z","timestamp":1669085330000},"page":"1044-1047","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"title":["Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 2q12.2\u2192q13 encompassing MALL, NPHP1, RGPD6 and BUB1"],"prefix":"10.1016","volume":"61","author":[{"given":"Chih-Ping","family":"Chen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shin-Wen","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Schu-Rern","family":"Chern","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peih-Shan","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fang-Tzu","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yen-Ting","family":"Pan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chen-Wen","family":"Pan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wayseen","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.tjog.2022.08.007_bib1","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1016\/j.tjog.2016.12.003","article-title":"Recurrent 2q13 microduplication encompassing MALL, NPHP1, RGPD6 and BUB1 associated with autism spectrum disorder, intellectual disability and liver disorder","volume":"56","author":"Chen","year":"2017","journal-title":"Taiwan J Obstet Gynecol"},{"key":"10.1016\/j.tjog.2022.08.007_bib2","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2020.103956","article-title":"Prenatal diagnosis of 2q13 duplications: the crucial role of the family survey in genetic counseling on novel copy number variations","volume":"63","author":"Bellil","year":"2020","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.tjog.2022.08.007_bib3","doi-asserted-by":"crossref","first-page":"1876","DOI":"10.1002\/ajmg.a.31390","article-title":"Identification of a novel polymorphism\u2013the duplication of the NPHP1 (nephronophthisis 1) gene","volume":"140A","author":"Baris","year":"2006","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.tjog.2022.08.007_bib4","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1038\/nature09146","article-title":"Functional impact of global rare copy number variation in autism spectrum disorders","volume":"466","author":"Pinto","year":"2010","journal-title":"Nature"},{"key":"10.1016\/j.tjog.2022.08.007_bib5","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1097\/GIM.0b013e31822c79f9","article-title":"An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities","volume":"13","author":"Kaminsky","year":"2011","journal-title":"Genet Med"},{"key":"10.1016\/j.tjog.2022.08.007_bib6","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1186\/s12991-014-0022-2","article-title":"Duplication of the NPHP1 gene in patients with autism spectrum disorder and normal intellectual ability: a case series","volume":"13","author":"Yasuda","year":"2014","journal-title":"Ann Gen Psychiatr"},{"key":"10.1016\/j.tjog.2022.08.007_bib7","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1111\/j.1399-0004.2011.01637.x","article-title":"A\u00a0recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism","volume":"81","author":"Yu","year":"2012","journal-title":"Clin Genet"},{"key":"10.1016\/j.tjog.2022.08.007_bib8","doi-asserted-by":"crossref","first-page":"2664","DOI":"10.1002\/ajmg.a.37269","article-title":"Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes","volume":"167A","author":"Riley","year":"2015","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.tjog.2022.08.007_bib9","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1002\/ajmg.b.32236","article-title":"Adult neuropsychiatric expression and familial segregation of 2q13 duplications","volume":"165B","author":"Costain","year":"2014","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"key":"10.1016\/j.tjog.2022.08.007_bib10","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1111\/gtc.12487","article-title":"Behavioral and neuroanatomical analyses in a genetic mouse model of 2q13 duplication","volume":"22","author":"Kishimoto","year":"2017","journal-title":"Gene Cell"},{"key":"10.1016\/j.tjog.2022.08.007_bib11","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1159\/000207526","article-title":"A\u00a0complex medical phenotype in a patient with triplication of 2q12.3 to 2q13 characterized with oligonucleotide array CGH","volume":"124","author":"Mercer","year":"2009","journal-title":"Cytogenet Genome Res"}],"container-title":["Taiwanese Journal of Obstetrics and Gynecology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S102845592200287X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S102845592200287X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T18:21:36Z","timestamp":1760898096000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S102845592200287X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11]]},"references-count":11,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2022,11]]}},"alternative-id":["S102845592200287X"],"URL":"https:\/\/doi.org\/10.1016\/j.tjog.2022.08.007","relation":{},"ISSN":["1028-4559"],"issn-type":[{"value":"1028-4559","type":"print"}],"subject":[],"published":{"date-parts":[[2022,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 2q12.2\u2192q13 encompassing MALL, NPHP1, RGPD6 and BUB1","name":"articletitle","label":"Article Title"},{"value":"Taiwanese Journal of Obstetrics and Gynecology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.tjog.2022.08.007","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 Taiwan Association of Obstetrics & Gynecology. Publishing services by Elsevier B.V.","name":"copyright","label":"Copyright"}]}}