{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T03:22:32Z","timestamp":1790133752318,"version":"4.0.1"},"reference-count":21,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2019,11,1]],"date-time":"2019-11-01T00:00:00Z","timestamp":1572566400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,11,1]],"date-time":"2019-11-01T00:00:00Z","timestamp":1572566400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2019,9,19]],"date-time":"2019-09-19T00:00:00Z","timestamp":1568851200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004663","name":"Ministry of Science and Technology, Taiwan","doi-asserted-by":"publisher","award":["MMH-E-108-04"],"award-info":[{"award-number":["MMH-E-108-04"]}],"id":[{"id":"10.13039\/501100004663","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004861","name":"Mackay Memorial Hospital","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004861","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":[[2019,11]]},"DOI":"10.1016\/j.tjog.2019.07.031","type":"journal-article","created":{"date-parts":[[2019,11,20]],"date-time":"2019-11-20T16:53:46Z","timestamp":1574268826000},"page":"859-863","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":9,"title":["Detection of a familial 1q21.1 microdeletion and concomitant CHD1L mutation in a fetus with oligohydramnios and bilateral renal dysplasia on prenatal ultrasound"],"prefix":"10.1016","volume":"58","author":[{"given":"Chih-Ping","family":"Chen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian-Pei","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi-Yung","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Schu-Rern","family":"Chern","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peih-Shan","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shin-Wen","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wayseen","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chen-Chi","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.tjog.2019.07.031_bib1","doi-asserted-by":"crossref","first-page":"1466","DOI":"10.1038\/ng.279","article-title":"Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities","volume":"40","author":"Brunetti-Pierri","year":"2008","journal-title":"Nat Genet"},{"key":"10.1016\/j.tjog.2019.07.031_bib2","doi-asserted-by":"crossref","first-page":"1685","DOI":"10.1056\/NEJMoa0805384","article-title":"Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes","volume":"359","author":"Mefford","year":"2008","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.tjog.2019.07.031_bib3","doi-asserted-by":"crossref","first-page":"1429","DOI":"10.1161\/01.RES.0000130528.72330.5c","article-title":"Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease","volume":"94","author":"Christiansen","year":"2004","journal-title":"Circ Res"},{"key":"10.1016\/j.tjog.2019.07.031_bib4","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1177\/0883073810377658","article-title":"An emerging 1q21.1 deletion-associated neurodevelopmental phenotype","volume":"26","author":"Basel-Vanagaite","year":"2011","journal-title":"J\u00a0Child Neurol"},{"key":"10.1016\/j.tjog.2019.07.031_bib5","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1186\/1750-1172-6-54","article-title":"Understanding the impact of 1q21.1 copy number variant","volume":"6","author":"Harvard","year":"2011","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.tjog.2019.07.031_bib6","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1016\/j.gene.2012.07.008","article-title":"Prenatal diagnosis of an atypical 1q21.1 microdeletion and duplication associated with foetal urogenital abnormalities","volume":"507","author":"Liao","year":"2012","journal-title":"Gene"},{"key":"10.1016\/j.tjog.2019.07.031_bib7","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1016\/j.ejmg.2012.12.004","article-title":"Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis","volume":"56","author":"Digilio","year":"2013","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.tjog.2019.07.031_bib8","series-title":"GeneReviews\u00ae","article-title":"1q21.1 recurrent microdeletion","author":"Haldeman-Englert","year":"1993"},{"key":"10.1016\/j.tjog.2019.07.031_bib9","first-page":"550","article-title":"Phenotypic variability of the 1q21.1 microdeletion syndrome in members of the same family: relevance of detection of neuropsychiatric disorders for diagnosis of genetic syndromes","volume":"61","author":"Natera-De Benito","year":"2015","journal-title":"Rev Neurol"},{"key":"10.1016\/j.tjog.2019.07.031_bib10","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1038\/gim.2015.78","article-title":"Clinical phenotype of the recurrent 1q21.1 copy-number variant","volume":"18","author":"Bernier","year":"2016","journal-title":"Genet Med"},{"key":"10.1016\/j.tjog.2019.07.031_bib11","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1159\/000450971","article-title":"Interstitial 1q21.1 microdeletion is associated with severe skeletal anomalies, dysmorphic face and moderate intellectual disability","volume":"7","author":"Gamba","year":"2016","journal-title":"Mol Syndromol"},{"key":"10.1016\/j.tjog.2019.07.031_bib12","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1186\/s13052-017-0380-x","article-title":"Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series","volume":"43","author":"Bus\u00e8","year":"2017","journal-title":"Ital J Pediatr"},{"key":"10.1016\/j.tjog.2019.07.031_bib13","doi-asserted-by":"crossref","DOI":"10.1002\/jgm.2948","article-title":"Clinical and molecular cytogenetic analyses of four families with 1q21.1 microdeletion or microduplication","volume":"19","author":"Wang","year":"2017","journal-title":"J\u00a0Gene Med"},{"key":"10.1016\/j.tjog.2019.07.031_bib14","doi-asserted-by":"crossref","first-page":"163","DOI":"10.3892\/mmr.2013.1788","article-title":"Prenatal detection of TAR syndrome in a fetus with compound inheritance of an RBM8A SNP and a 334-kb deletion: a case report","volume":"9","author":"Papoulidis","year":"2014","journal-title":"Mol Med Rep"},{"key":"10.1016\/j.tjog.2019.07.031_bib15","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1002\/pd.4782","article-title":"Identification of copy number variations associated with congenital heart disease by chromosomal microarray analysis and next-generation sequencing","volume":"36","author":"Zhu","year":"2016","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.tjog.2019.07.031_bib16","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1016\/j.tjog.2018.08.024","article-title":"Prenatal diagnosis of a familial 1q21.1-q21.2 microdeletion in a fetus with polydactyly of left foot on prenatal ultrasound","volume":"57","author":"Chen","year":"2018","journal-title":"Taiwan J Obstet Gynecol"},{"key":"10.1016\/j.tjog.2019.07.031_bib17","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1002\/uog.18928","article-title":"Diagnostic yield of chromosomal microarray analysis in fetuses with isolated increased nuchal translucency: a French multicenter study","volume":"52","author":"Egloff","year":"2018","journal-title":"Ultrasound Obstet Gynecol"},{"key":"10.1016\/j.tjog.2019.07.031_bib18","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1086\/510919","article-title":"Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome","volume":"80","author":"Klopocki","year":"2007","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.tjog.2019.07.031_bib20","doi-asserted-by":"crossref","first-page":"1240","DOI":"10.1126\/science.1177321","article-title":"Poly(ADP-ribose)-dependent regulation of DNA repair by the chromatin remodeling enzyme ALC1","volume":"325","author":"Ahel","year":"2009","journal-title":"Science"},{"key":"10.1016\/j.tjog.2019.07.031_bib21","doi-asserted-by":"crossref","first-page":"2355","DOI":"10.1093\/ndt\/gfr649","article-title":"CHD1L: a new candidate gene for congenital anomalies of the kidneys and urinary tract (CAKUT)","volume":"27","author":"Brockschmidt","year":"2012","journal-title":"Nephrol Dial Transplant"},{"key":"10.1016\/j.tjog.2019.07.031_bib22","doi-asserted-by":"crossref","first-page":"1429","DOI":"10.1038\/ki.2013.508","article-title":"Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract","volume":"85","author":"Hwang","year":"2014","journal-title":"Kidney Int"}],"container-title":["Taiwanese Journal of Obstetrics and Gynecology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1028455919302293?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1028455919302293?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T18:18:32Z","timestamp":1760897912000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1028455919302293"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,11]]},"references-count":21,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2019,11]]}},"alternative-id":["S1028455919302293"],"URL":"https:\/\/doi.org\/10.1016\/j.tjog.2019.07.031","relation":{},"ISSN":["1028-4559"],"issn-type":[{"value":"1028-4559","type":"print"}],"subject":[],"published":{"date-parts":[[2019,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Detection of a familial 1q21.1 microdeletion and concomitant CHD1L mutation in a fetus with oligohydramnios and bilateral renal dysplasia on prenatal ultrasound","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.2019.07.031","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 Taiwan Association of Obstetrics & Gynecology. Publishing services by Elsevier B.V.","name":"copyright","label":"Copyright"}]}}