{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T19:35:00Z","timestamp":1790192100201,"version":"4.1.0"},"reference-count":32,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2021,3,1]],"date-time":"2021-03-01T00:00:00Z","timestamp":1614556800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,3,1]],"date-time":"2021-03-01T00:00:00Z","timestamp":1614556800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,1,15]],"date-time":"2021-01-15T00:00:00Z","timestamp":1610668800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"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":[[2021,3]]},"DOI":"10.1016\/j.tjog.2021.01.001","type":"journal-article","created":{"date-parts":[[2021,3,5]],"date-time":"2021-03-05T23:10:29Z","timestamp":1614985829000},"page":"232-237","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":23,"title":["Prenatal features of 17q12 microdeletion and microduplication syndromes: A retrospective case series"],"prefix":"10.1016","volume":"60","author":[{"given":"Chun-Xiang","family":"Zhou","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiang-Yu","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu-Jie","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lei-Lei","family":"Gu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lin-Lin","family":"He","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xing","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong-Lei","family":"Duan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tong","family":"Ru","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.tjog.2021.01.001_bib1","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1038\/ejhg.2009.174","article-title":"Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12","volume":"18","author":"Nagamani","year":"2010","journal-title":"Eur J Hum Genet"},{"issue":"11","key":"10.1016\/j.tjog.2021.01.001_bib2","doi-asserted-by":"crossref","first-page":"2934","DOI":"10.1002\/ajmg.a.37848","article-title":"17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature","volume":"170","author":"Rasmussen","year":"2016","journal-title":"Am J Med Genet A"},{"issue":"6","key":"10.1016\/j.tjog.2021.01.001_bib3","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1016\/j.ejpn.2013.04.010","article-title":"Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features","volume":"17","author":"Battaglia","year":"2013","journal-title":"Eur J Paediatr Neurol"},{"issue":"4","key":"10.1016\/j.tjog.2021.01.001_bib4","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1038\/ng1297-384","article-title":"Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY","volume":"17","author":"Horikawa","year":"1997","journal-title":"Nat Genet"},{"issue":"5","key":"10.1016\/j.tjog.2021.01.001_bib5","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1007\/s00467-015-3142-2","article-title":"HNF1B-associated clinical phenotypes: the kidney and beyond","volume":"31","author":"Bockenhauer","year":"2016","journal-title":"Pediatr Nephrol"},{"issue":"3","key":"10.1016\/j.tjog.2021.01.001_bib6","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1093\/ckj\/sfy102","article-title":"Variable phenotype in HNF1B mutations: extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract","volume":"12","author":"Madariaga","year":"2018","journal-title":"Clin Kidney J"},{"issue":"1","key":"10.1016\/j.tjog.2021.01.001_bib7","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1016\/j.kint.2016.03.027","article-title":"Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder","volume":"90","author":"Clissold","year":"2016","journal-title":"Kidney Int"},{"issue":"12","key":"10.1016\/j.tjog.2021.01.001_bib8","doi-asserted-by":"crossref","first-page":"1136","DOI":"10.1002\/pd.5556","article-title":"Prenatal diagnosis of HNF1B-associated renal cysts: need to differentiate intragenic variants from 17q12 microdeletion syndrome?","volume":"39","author":"Vasileiou","year":"2019","journal-title":"Prenat Diagn"},{"issue":"32","key":"10.1016\/j.tjog.2021.01.001_bib9","doi-asserted-by":"crossref","first-page":"13182","DOI":"10.1073\/pnas.0705464104","article-title":"LIM-homeodomain proteins Lhx1 and Lhx5, and their cofactor Ldb1, control Purkinje cell differentiation in the developing cerebellum","volume":"104","author":"Zhao","year":"2007","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"1","key":"10.1016\/j.tjog.2021.01.001_bib10","first-page":"3","article-title":"Clinical and genetic aspects of Mayer-Rokitansky-K\u00fcster-Hauser syndrome","volume":"30","author":"Ledig","year":"2018","journal-title":"Med Genet"},{"issue":"1","key":"10.1016\/j.tjog.2021.01.001_bib11","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1038\/s41588-018-0281-y","article-title":"The copy number variation landscape of congenital anomalies of the kidney and urinary tract","volume":"51","author":"Verbitsky","year":"2019","journal-title":"Nat Genet"},{"issue":"3","key":"10.1016\/j.tjog.2021.01.001_bib12","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1080\/01443615.2018.1519693","article-title":"Prenatal diagnosis of 17q12 deletion syndrome: a retrospective case series","volume":"39","author":"Jing","year":"2019","journal-title":"J\u00a0Obstet Gynaecol"},{"issue":"13","key":"10.1016\/j.tjog.2021.01.001_bib13","doi-asserted-by":"crossref","first-page":"1336","DOI":"10.1002\/pd.4701","article-title":"Should we offer prenatal testing for 17q12 microdeletion syndrome to all cases with prenatally diagnosed echogenic kidneys? Prenatal findings in two families with 17q12 microdeletion syndrome and review of the literature","volume":"35","author":"Jones","year":"2015","journal-title":"Prenat Diagn"},{"issue":"10","key":"10.1016\/j.tjog.2021.01.001_bib14","first-page":"662","article-title":"Prenatal diagnosis of 17q12 microdeletion syndrome in fetal renal abnormalities]","volume":"52","author":"Jiang","year":"2017","journal-title":"Zhonghua Fu Chan Ke Za Zhi"},{"issue":"12","key":"10.1016\/j.tjog.2021.01.001_bib15","doi-asserted-by":"crossref","first-page":"3076","DOI":"10.1002\/ajmg.a.36767","article-title":"Duodenal atresia in 17q12 microdeletion including HNF1B: a new associated malformation in this syndrome","volume":"164A","author":"Quintero-Rivera","year":"2014","journal-title":"Am J Med Genet A"},{"issue":"2","key":"10.1016\/j.tjog.2021.01.001_bib16","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1159\/000332968","article-title":"Prenatally diagnosed 17q12 microdeletion syndrome with a novel association with congenital diaphragmatic hernia","volume":"31","author":"Hendrix","year":"2012","journal-title":"Fetal Diagn Ther"},{"issue":"12","key":"10.1016\/j.tjog.2021.01.001_bib17","doi-asserted-by":"crossref","first-page":"3038","DOI":"10.1002\/ajmg.a.37351","article-title":"Recurrent duplications of 17q12 associated with variable phenotypes","volume":"167A","author":"Mitchell","year":"2015","journal-title":"Am J Med Genet A"},{"issue":"5","key":"10.1016\/j.tjog.2021.01.001_bib18","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1002\/ajmg.b.32643","article-title":"Chromosome 17q12 duplications: further delineation of the range of psychiatric and clinical phenotypes","volume":"177","author":"Kamath","year":"2018","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"issue":"4","key":"10.1016\/j.tjog.2021.01.001_bib19","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1016\/j.tjog.2014.05.004","article-title":"Prenatal diagnosis of 17q12 duplication and deletion syndrome in two fetuses with congenital anomalies","volume":"53","author":"Li","year":"2014","journal-title":"Taiwan J Obstet Gynecol"},{"issue":"6","key":"10.1016\/j.tjog.2021.01.001_bib20","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1016\/j.tjog.2016.08.004","article-title":"Prenatal diagnosis of familial transmission of 17q12 microduplication associated with no apparent phenotypic abnormality","volume":"55","author":"Chen","year":"2016","journal-title":"Taiwan J Obstet Gynecol"},{"key":"10.1016\/j.tjog.2021.01.001_bib21","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1186\/s13039-019-0431-7","article-title":"Prenatal diagnosis of 17q12 microdeletion and microduplication syndrome in fetuses with congenital renal abnormalities","volume":"12","author":"Wan","year":"2019","journal-title":"Mol Cytogenet"},{"issue":"6","key":"10.1016\/j.tjog.2021.01.001_bib22","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1038\/gim.2012.164","article-title":"Estimates of penetrance for recurrent pathogenic copy-number variations","volume":"15","author":"Rosenfeld","year":"2013","journal-title":"Genet Med"},{"issue":"5","key":"10.1016\/j.tjog.2021.01.001_bib23","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1002\/pd.4807","article-title":"Copy number variations in multicystic dysplastic kidney: update for prenatal diagnosis and genetic counseling","volume":"36","author":"Xi","year":"2016","journal-title":"Prenat Diagn"},{"issue":"9","key":"10.1016\/j.tjog.2021.01.001_bib24","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1002\/pd.5418","article-title":"Prenatal detection of isolated bilateral hyperechogenic kidneys: etiologies and outcomes","volume":"39","author":"Shuster","year":"2019","journal-title":"Prenat Diagn"},{"issue":"11","key":"10.1016\/j.tjog.2021.01.001_bib25","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1002\/pd.4926","article-title":"Prenatal diagnosis of 17q12 deletion syndrome: from fetal hyperechogenic kidneys to high risk for autism","volume":"36","author":"Gilboa","year":"2016","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.tjog.2021.01.001_bib26","doi-asserted-by":"crossref","first-page":"1436","DOI":"10.2337\/dc16-2462","article-title":"Diabetes, associated clinical spectrum, long-term prognosis, and genotype\/phenotype correlations in 201 adult patients with hepatocyte nuclear factor 1B (HNF1B) molecular defects","volume":"40","author":"Dubois-Laforgue","year":"2017","journal-title":"Diabetes Care"},{"issue":"1","key":"10.1016\/j.tjog.2021.01.001_bib27","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1186\/s13148-018-0530-z","article-title":"Genome-wide methylomic analysis in individuals with HNF1B intragenic mutation and 17q12 microdeletion","volume":"10","author":"Clissold","year":"2018","journal-title":"Clin Epigenet"},{"issue":"3","key":"10.1016\/j.tjog.2021.01.001_bib28","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1136\/archdischild-2014-306810","article-title":"Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome","volume":"100","author":"Laffargue","year":"2015","journal-title":"Arch Dis Child"},{"issue":"49","key":"10.1016\/j.tjog.2021.01.001_bib29","doi-asserted-by":"crossref","DOI":"10.1097\/MD.0000000000005552","article-title":"Application of array-comparative genomic hybridization in tetralogy of Fallot","volume":"95","author":"Liu","year":"2016","journal-title":"Medicine (Baltim)"},{"issue":"2","key":"10.1016\/j.tjog.2021.01.001_bib30","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1080\/01443615.2017.1342230","article-title":"Clinical outcome of pregnancies with the prenatal double bubble sign - a five-year experience from one single centre in mainland China","volume":"38","author":"Yang","year":"2018","journal-title":"J\u00a0Obstet Gynaecol"},{"key":"10.1016\/j.tjog.2021.01.001_bib31","first-page":"1","article-title":"The double bubble sign: duodenal atresia and associated genetic etiologies","volume":"5","author":"Bishop","year":"2019","journal-title":"Fetal Diagn Ther"},{"issue":"2","key":"10.1016\/j.tjog.2021.01.001_bib32","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1002\/ajmg.a.35730","article-title":"Expanding the phenotype associated with 17q12 duplication: case report and review of the literature","volume":"161A","author":"Bierhals","year":"2013","journal-title":"Am J Med Genet A"}],"container-title":["Taiwanese Journal of Obstetrics and Gynecology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1028455921000012?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1028455921000012?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T18:18:08Z","timestamp":1760897888000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1028455921000012"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3]]},"references-count":32,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2021,3]]}},"alternative-id":["S1028455921000012"],"URL":"https:\/\/doi.org\/10.1016\/j.tjog.2021.01.001","relation":{},"ISSN":["1028-4559"],"issn-type":[{"value":"1028-4559","type":"print"}],"subject":[],"published":{"date-parts":[[2021,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Prenatal features of 17q12 microdeletion and microduplication syndromes: A retrospective case series","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.2021.01.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 Taiwan Association of Obstetrics & Gynecology. Publishing services by Elsevier B.V.","name":"copyright","label":"Copyright"}]}}