{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T05:44:22Z","timestamp":1780983862448,"version":"3.54.1"},"reference-count":24,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2018,8,20]],"date-time":"2018-08-20T00:00:00Z","timestamp":1534723200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"DOI":"10.3389\/fgene.2018.00275","type":"journal-article","created":{"date-parts":[[2018,8,20]],"date-time":"2018-08-20T04:18:44Z","timestamp":1534738724000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":12,"title":["Prenatal Diagnosis of Recurrent Distal 1q21.1 Duplication in Three Fetuses With Ultrasound Anomalies"],"prefix":"10.3389","volume":"9","author":[{"given":"Xiuqing","family":"Ji","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiong","family":"Pan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"An","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fengchang","family":"Qiao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dingyuan","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ping","family":"Hu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhengfeng","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2018,8,20]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","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":"B2","doi-asserted-by":"publisher","first-page":"497","DOI":"10.1016\/j.ejmg.2015.07.001","article-title":"Inherited 1q21.1q21.2 duplication and 16p11.2 deletion: a two-hit case with more severe clinical manifestations.","volume":"58","author":"Brisset","year":"2015","journal-title":"Eur. J. Med. Genet."},{"key":"B3","doi-asserted-by":"publisher","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":"B4","doi-asserted-by":"publisher","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":"Buse","year":"2017","journal-title":"Ital. J. Pediatr."},{"key":"B5","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1016\/j.tjog.2017.01.002","article-title":"Prenatal diagnosis and molecular cytogenetic characterization of concomitant familial small supernumerary marker chromosome derived from chromosome 4q (4q11.1-q13.2) and 5q13.2 microdeletion with no apparent phenotypic abnormality.","volume":"56","author":"Chen","year":"2017","journal-title":"Taiwan J. Obstet. Gynecol."},{"key":"B6","doi-asserted-by":"publisher","first-page":"727","DOI":"10.1007\/s00383-009-2406-y","article-title":"Duodenal atresia: associated anomalies, prenatal diagnosis and outcome.","volume":"25","author":"Choudhry","year":"2009","journal-title":"Pediatr. Surg. Int."},{"key":"B7","doi-asserted-by":"publisher","first-page":"282","DOI":"10.1038\/gim.2012.129","article-title":"1q21.1 Microduplication expression in adults.","volume":"15","author":"Dolcetti","year":"2013","journal-title":"Genet. Med."},{"key":"B8","doi-asserted-by":"publisher","first-page":"1626","DOI":"10.1089\/scd.2017.0110","article-title":"CHD1L promotes neuronal differentiation in human embryonic stem cells by upregulating PAX6.","volume":"26","author":"Dou","year":"2017","journal-title":"Stem Cells Dev."},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8166-6-30","article-title":"1q25.2-q31.3 deletion in a female with mental retardation, clinodactyly, minor facial anomalies but no growth retardation.","volume":"6","author":"Hu","year":"2013","journal-title":"Mol. Cytogenet."},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1038\/srep15705","article-title":"Association study of BCL9 gene polymorphism rs583583 with schizophrenia and negative symptoms in Japanese population.","volume":"5","author":"Kimura","year":"2015","journal-title":"Sci. Rep."},{"key":"B11","doi-asserted-by":"publisher","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":"B12","doi-asserted-by":"publisher","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. Engl. J. Med."},{"key":"B13","doi-asserted-by":"publisher","first-page":"247","DOI":"10.1002\/uog.13228","article-title":"Systematic review and meta-analysis of performance of second-trimester nasal bone assessment in detection of fetuses with Down syndrome.","volume":"43","author":"Moreno-Cid","year":"2014","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"B14","doi-asserted-by":"crossref","first-page":"1829","DOI":"10.7863\/jum.2012.31.11.1829","article-title":"Prenatal diagnosis of a rare sonographic appearance of duodenal atresia: report of 2 cases and literature review.","volume":"31","author":"Pariente","year":"2012","journal-title":"J. Ultrasound Med."},{"key":"B15","doi-asserted-by":"publisher","first-page":"240","DOI":"10.1002\/pd.2938","article-title":"Nasal bone assessment in fetuses with trisomy 21 at 16-24 weeks of gestation by three-dimensional ultrasound.","volume":"32","author":"Persico","year":"2012","journal-title":"Prenat. Diagn."},{"key":"B16","doi-asserted-by":"publisher","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."},{"key":"B17","doi-asserted-by":"publisher","first-page":"754","DOI":"10.1038\/ejhg.2012.6","article-title":"Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes.","volume":"20","author":"Rosenfeld","year":"2012","journal-title":"Eur. J. Hum. Genet."},{"key":"B18","doi-asserted-by":"publisher","first-page":"78","DOI":"10.1086\/431652","article-title":"Segmental duplications and copy-number variation in the human genome.","volume":"77","author":"Sharp","year":"2005","journal-title":"Am. J. Hum. Genet."},{"key":"B19","doi-asserted-by":"publisher","first-page":"1513","DOI":"10.1093\/hmg\/ddr589","article-title":"Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls.","volume":"21","author":"Soemedi","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"B20","doi-asserted-by":"publisher","first-page":"1219","DOI":"10.1016\/j.ajog.2005.11.042","article-title":"Nasal bone assessment in prenatal screening for trisomy 21.","volume":"195","author":"Sonek","year":"2006","journal-title":"Am. J. Obstet. Gynecol."},{"key":"B21","doi-asserted-by":"publisher","first-page":"674","DOI":"10.1016\/j.ejmg.2015.11.003","article-title":"Associated congenital anomalies among cases with Down syndrome.","volume":"58","author":"Stoll","year":"2015","journal-title":"Eur. J. Med. Genet."},{"key":"B22","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1159\/000431274","article-title":"Phenotypic variability associated with a large recurrent 1q21.1 microduplication in a three-generation family.","volume":"6","author":"Verhagen","year":"2015","journal-title":"Mol. Syndromol."},{"key":"B23","doi-asserted-by":"publisher","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. Gene Med."},{"key":"B24","doi-asserted-by":"publisher","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":"2017","journal-title":"J. Obstet. Gynaecol."}],"container-title":["Frontiers in Genetics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fgene.2018.00275\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,8,20]],"date-time":"2018-08-20T04:18:45Z","timestamp":1534738725000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fgene.2018.00275\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,8,20]]},"references-count":24,"alternative-id":["10.3389\/fgene.2018.00275"],"URL":"https:\/\/doi.org\/10.3389\/fgene.2018.00275","relation":{},"ISSN":["1664-8021"],"issn-type":[{"value":"1664-8021","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,8,20]]},"article-number":"275"}}