{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T10:07:25Z","timestamp":1777370845525,"version":"3.51.4"},"reference-count":22,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2014,12,1]],"date-time":"2014-12-01T00:00:00Z","timestamp":1417392000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2014,12,1]],"date-time":"2014-12-01T00:00:00Z","timestamp":1417392000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2016,1,2]],"date-time":"2016-01-02T00:00:00Z","timestamp":1451692800000},"content-version":"vor","delay-in-days":397,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81100435"],"award-info":[{"award-number":["81100435"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Guangzhou Science and Technology Bureau Project","award":["201300000086"],"award-info":[{"award-number":["201300000086"]}]},{"DOI":"10.13039\/501100003785","name":"Guangdong Provincial Medical Research Foundation","doi-asserted-by":"crossref","award":["A2013515"],"award-info":[{"award-number":["A2013515"]}],"id":[{"id":"10.13039\/501100003785","id-type":"DOI","asserted-by":"crossref"}]}],"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":[[2014,12]]},"DOI":"10.1016\/j.tjog.2014.05.004","type":"journal-article","created":{"date-parts":[[2014,12,12]],"date-time":"2014-12-12T21:49:25Z","timestamp":1418420965000},"page":"579-582","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":24,"title":["Prenatal diagnosis of 17q12 duplication and deletion syndrome in two fetuses with congenital anomalies"],"prefix":"10.1016","volume":"53","author":[{"given":"Ru","family":"Li","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fang","family":"Fu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yong-Ling","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dong-Zhi","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Can","family":"Liao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.tjog.2014.05.004_bib1","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1681\/ASN.2006091057","article-title":"Anomalies of the TCF2 gene are the main cause of fetal bilateral hyperechogenic kidneys","volume":"18","author":"Decramer","year":"2007","journal-title":"J\u00a0Am Soc Nephrol"},{"key":"10.1016\/j.tjog.2014.05.004_bib2","doi-asserted-by":"crossref","first-page":"1057","DOI":"10.1086\/522591","article-title":"Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy","volume":"81","author":"Mefford","year":"2007","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.tjog.2014.05.004_bib3","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"},{"key":"10.1016\/j.tjog.2014.05.004_bib4","doi-asserted-by":"crossref","first-page":"2317","DOI":"10.1002\/ajmg.a.35520","article-title":"17q12 microdeletion syndrome: three patients illustrating the phenotypic spectrum","volume":"158A","author":"Dixit","year":"2012","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.tjog.2014.05.004_bib5","doi-asserted-by":"crossref","first-page":"3430","DOI":"10.1093\/ndt\/gfq380","article-title":"Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion","volume":"25","author":"Loirat","year":"2010","journal-title":"Nephrol Dial Transplant"},{"key":"10.1016\/j.tjog.2014.05.004_bib6","doi-asserted-by":"crossref","first-page":"618","DOI":"10.1016\/j.ajhg.2010.10.004","article-title":"Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia","volume":"87","author":"Moreno-De-Luca","year":"2010","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.tjog.2014.05.004_bib7","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1136\/jmg.2007.051839","article-title":"Genomic imbalances associated with mullerian aplasia","volume":"45","author":"Cheroki","year":"2008","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.tjog.2014.05.004_bib8","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1136\/jmg.2010.082412","article-title":"High incidence of recurrent copy number variants in patients with isolated and syndromic Mullerian aplasia","volume":"48","author":"Nik-Zainal","year":"2011","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.tjog.2014.05.004_bib9","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"},{"key":"10.1016\/j.tjog.2014.05.004_bib10","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"},{"key":"10.1016\/j.tjog.2014.05.004_bib11","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1016\/j.ejmg.2008.06.003","article-title":"Private inherited microdeletion\/duplications: implications in clinical practice","volume":"51","author":"Mencarelli","year":"2008","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.tjog.2014.05.004_bib12","doi-asserted-by":"crossref","first-page":"e437","DOI":"10.1016\/j.ejmg.2011.03.010","article-title":"A\u00a017q12 chromosomal duplication associated with renal disease and esophageal atresia","volume":"54","author":"Faguer","year":"2011","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.tjog.2014.05.004_bib13","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1016\/j.tjog.2013.10.017","article-title":"Detection of recurrent transmission of 17q12 microdeletion by array comparative genomic hybridization in a fetus with prenatally diagnosed hydronephrosis, hydroureter, and multicystic kidney, and variable clinical spectrum in the family","volume":"52","author":"Chen","year":"2013","journal-title":"Taiwan J Obstet Gynecol"},{"key":"10.1016\/j.tjog.2014.05.004_bib14","first-page":"3326","article-title":"Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome\/maturity onset diabetes of the young type 5","volume":"123","author":"Chen","year":"2010","journal-title":"Chin Med J (Engl)"},{"key":"10.1016\/j.tjog.2014.05.004_bib15","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1097\/01.SMJ.0000060885.27846.91","article-title":"Persistent left superior vena cava: an intensivist's experience and review of the literature","volume":"96","author":"Pahwa","year":"2003","journal-title":"South Med J"},{"key":"10.1016\/j.tjog.2014.05.004_bib16","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1002\/uog.2704","article-title":"Prenatal diagnosis of persistent left superior vena cava and its associated congenital anomalies","volume":"27","author":"Berg","year":"2006","journal-title":"Ultrasound Obstet Gynecol"},{"key":"10.1016\/j.tjog.2014.05.004_bib17","doi-asserted-by":"crossref","first-page":"3139","DOI":"10.1093\/hmg\/ddh338","article-title":"HNF1-beta\/TCF2 mutations impair transactivation potential through altered co-regulator recruitment","volume":"13","author":"Barbacci","year":"2004","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.tjog.2014.05.004_bib18","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1002\/ajmg.1320590313","article-title":"Cardiac abnormalities in the Rubinstein-Taybi syndrome","volume":"59","author":"Stevens","year":"1995","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.tjog.2014.05.004_bib19","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1016\/S0092-8674(00)00022-2","article-title":"Coordinate roles of LIM homeobox genes in directing the dorsoventral trajectory of motor axons in the vertebrate limb","volume":"10","author":"Kania","year":"2000","journal-title":"Cell"},{"key":"10.1016\/j.tjog.2014.05.004_bib20","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1038\/374425a0","article-title":"Requirement for Lim1 in head-organizer function","volume":"374","author":"Shawlot","year":"1995","journal-title":"Nature"},{"key":"10.1016\/j.tjog.2014.05.004_bib21","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1159\/000335344","article-title":"Recurrent transmission of a 17q12 microdeletion and a variable clinical spectrum","volume":"2","author":"George","year":"2012","journal-title":"Mol Syndromol"},{"key":"10.1016\/j.tjog.2014.05.004_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"}],"container-title":["Taiwanese Journal of Obstetrics and Gynecology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1028455914001922?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1028455914001922?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T18:12:29Z","timestamp":1760897549000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1028455914001922"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,12]]},"references-count":22,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2014,12]]}},"alternative-id":["S1028455914001922"],"URL":"https:\/\/doi.org\/10.1016\/j.tjog.2014.05.004","relation":{},"ISSN":["1028-4559"],"issn-type":[{"value":"1028-4559","type":"print"}],"subject":[],"published":{"date-parts":[[2014,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Prenatal diagnosis of 17q12 duplication and deletion syndrome in two fetuses with congenital anomalies","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.2014.05.004","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 Published by Elsevier B.V.","name":"copyright","label":"Copyright"}]}}