{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T15:42:38Z","timestamp":1793029358576,"version":"4.5.0"},"reference-count":28,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2016,12,1]],"date-time":"2016-12-01T00:00:00Z","timestamp":1480550400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2016,12,1]],"date-time":"2016-12-01T00:00:00Z","timestamp":1480550400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2016,10,13]],"date-time":"2016-10-13T00:00:00Z","timestamp":1476316800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"name":"Key Program of Guangzhou Health Bureau","award":["201102A212026"],"award-info":[{"award-number":["201102A212026"]}]},{"name":"Guangzhou Technology and Information of Science","award":["201300000086"],"award-info":[{"award-number":["201300000086"]}]}],"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":[[2016,12]]},"DOI":"10.1016\/j.tjog.2015.07.007","type":"journal-article","created":{"date-parts":[[2016,12,28]],"date-time":"2016-12-28T11:31:14Z","timestamp":1482924674000},"page":"886-890","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":9,"title":["Prenatal diagnosis of Smith\u2013Magenis syndrome in two fetuses with increased nuchal translucency, mild lateral ventriculomegaly, and congenital heart defects"],"prefix":"10.1016","volume":"55","author":[{"given":"Ting-Ying","family":"Lei","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ru","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fang","family":"Fu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun-Hui","family":"Wan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yong-Ling","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiang-Yi","family":"Jing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Can","family":"Liao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"3","key":"10.1016\/j.tjog.2015.07.007_bib1","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1002\/(SICI)1096-8628(19960329)62:3<247::AID-AJMG9>3.0.CO;2-Q","article-title":"Multi-disciplinary clinical study of Smith\u2013Magenis syndrome (deletion 17p11.2)","volume":"62","author":"Greenberg","year":"1996","journal-title":"Am J Med Genet"},{"issue":"6","key":"10.1016\/j.tjog.2015.07.007_bib2","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1111\/j.1399-0004.2007.00815.x","article-title":"Gender, genotype, and phenotype differences in Smith\u2013Magenis syndrome: a meta-analysis of 105 cases","volume":"71","author":"Edelman","year":"2007","journal-title":"Clin Genet"},{"issue":"3","key":"10.1016\/j.tjog.2015.07.007_bib3","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1002\/ajmg.1320240303","article-title":"Interstitial deletion of (17)(p11.2p11.2) in nine patients","volume":"24","author":"Smith","year":"1986","journal-title":"Am J Med Genet"},{"issue":"4","key":"10.1016\/j.tjog.2015.07.007_bib4","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1038\/ng1126","article-title":"Mutations in RAI1 associated with Smith\u2013Magenis syndrome","volume":"33","author":"Slager","year":"2003","journal-title":"Nat Genet"},{"key":"10.1016\/j.tjog.2015.07.007_bib5","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1002\/ajmg.1320490220","article-title":"Prenatal diagnosis of interstitial deletion of 17p(11.2P11.2) (Smith\u2013Magenis syndrome)","volume":"49","author":"Fan","year":"1994","journal-title":"Am J Med Genet"},{"issue":"6","key":"10.1016\/j.tjog.2015.07.007_bib6","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1159\/000021032","article-title":"Prenatal diagnosis of Smith\u2013Magenis syndrome (del 17p11.2)","volume":"15","author":"Thomas","year":"2000","journal-title":"Fetal Diagn Ther"},{"key":"10.1016\/j.tjog.2015.07.007_bib7","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1038\/sj.ejhg.5202009","article-title":"Smith\u2013Magenis syndrome","volume":"16","author":"Elsea","year":"2008","journal-title":"Eur J Hum Genet"},{"issue":"5083","key":"10.1016\/j.tjog.2015.07.007_bib8","doi-asserted-by":"crossref","first-page":"818","DOI":"10.1126\/science.1359641","article-title":"Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors","volume":"258","author":"Kallioniemi","year":"1992","journal-title":"Science"},{"issue":"11","key":"10.1016\/j.tjog.2015.07.007_bib9","doi-asserted-by":"crossref","first-page":"742","DOI":"10.1097\/GIM.0b013e3181f8baad","article-title":"Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities","volume":"12","author":"Manning","year":"2010","journal-title":"Genet Med"},{"issue":"3","key":"10.1016\/j.tjog.2015.07.007_bib10","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1016\/j.ejmg.2005.05.004","article-title":"Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith\u2013Magenis syndrome minimum deletion to approximately 650 kb","volume":"48","author":"Schoumans","year":"2005","journal-title":"Eur J Med Genet"},{"issue":"1","key":"10.1016\/j.tjog.2015.07.007_bib11","first-page":"11","article-title":"A\u00a0turkish patient with large 17p11.2 deletion presenting with Smith\u2013Magenis syndrome","volume":"22","author":"Tug","year":"2011","journal-title":"Genet Counsel"},{"issue":"12","key":"10.1016\/j.tjog.2015.07.007_bib12","doi-asserted-by":"crossref","first-page":"1586","DOI":"10.3346\/jkms.2012.27.12.1586","article-title":"Reciprocal deletion and duplication of 17p11.2-11.2: Korean patients with Smith\u2013Magenis syndrome and Potocki\u2013Lupski syndrome","volume":"27","author":"Lee","year":"2012","journal-title":"J\u00a0Korean Med Sci"},{"issue":"3","key":"10.1016\/j.tjog.2015.07.007_bib13","doi-asserted-by":"crossref","first-page":"748","DOI":"10.1002\/ajmg.a.36322","article-title":"Mosaic microdeletion of 17p11.2-p12 and duplication of 17q22-q24 in a girl with Smith\u2013Magenis phenotype and peripheral neuropathy","volume":"164A","author":"Goh","year":"2014","journal-title":"Am J Med Genet A"},{"issue":"8","key":"10.1016\/j.tjog.2015.07.007_bib14","doi-asserted-by":"crossref","first-page":"1940","DOI":"10.1002\/ajmg.a.36583","article-title":"Abnormal brain magnetic resonance imaging in two patients with Smith\u2013Magenis syndrome","volume":"164A","author":"Maya","year":"2014","journal-title":"Am J Med Genet A"},{"issue":"1","key":"10.1016\/j.tjog.2015.07.007_bib15","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1002\/ajmg.a.30290","article-title":"Congenital heart defects associated with Smith\u2013Magenis syndrome: two cases of total anomalous pulmonary venous return","volume":"131","author":"Myers","year":"2004","journal-title":"Am J Med Genet A"},{"issue":"1","key":"10.1016\/j.tjog.2015.07.007_bib16","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1002\/ajmg.a.31055","article-title":"A\u00a0large interstitial deletion of 17p13.1p11.2 involving the Smith\u2013Magenis chromosome region in a girl with multiple congenital anomalies","volume":"140","author":"Yamamoto","year":"2006","journal-title":"Am J Med Genet A"},{"issue":"3","key":"10.1016\/j.tjog.2015.07.007_bib17","doi-asserted-by":"crossref","first-page":"2321","DOI":"10.4238\/2012.August.13.5","article-title":"Microdeletion on 17p11.2 in a Smith\u2013Magenis syndrome patient with mental retardation and congenital heart defect: first report from China","volume":"11","author":"Huang","year":"2012","journal-title":"Genet Mol Res"},{"issue":"2","key":"10.1016\/j.tjog.2015.07.007_bib18","first-page":"247","article-title":"Stroke after cardiac surgery in a patient with Smith\u2013Magenis syndrome","volume":"34","author":"Chaudhry","year":"2007","journal-title":"Tex Heart Inst J"},{"issue":"11","key":"10.1016\/j.tjog.2015.07.007_bib19","doi-asserted-by":"crossref","first-page":"2816","DOI":"10.1002\/ajmg.a.34247","article-title":"Congenital diaphragmatic hernia in Smith\u2013Magenis syndrome: a possible locus at chromosome 17p11.2","volume":"155A","author":"Sanford","year":"2011","journal-title":"Am J Med Genet A"},{"issue":"3","key":"10.1016\/j.tjog.2015.07.007_bib20","first-page":"227","article-title":"Clinical and genetic study of a case with Smith\u2013Magenis syndrome","volume":"50","author":"Shen","year":"2012","journal-title":"Zhonghua Er Ke Za Zhi"},{"issue":"17","key":"10.1016\/j.tjog.2015.07.007_bib21","doi-asserted-by":"crossref","first-page":"e705","DOI":"10.1097\/MD.0000000000000705","article-title":"Congenital scoliosis in Smith\u2013Magenis syndrome: a case report and review of the literature","volume":"94","author":"Li","year":"2015","journal-title":"Medicine (Baltimore)"},{"key":"10.1016\/j.tjog.2015.07.007_bib22","series-title":"A\u00a0practical guide to fetal echocardiography normal and abnormal Hearts","author":"Abuhamad","year":"2010"},{"issue":"3","key":"10.1016\/j.tjog.2015.07.007_bib23","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.1016\/j.neuroimage.2003.10.040","article-title":"Anatomical and functional brain imaging evidence of lenticulo-insular anomalies in Smith Magenis syndrome","volume":"21","author":"Boddaert","year":"2004","journal-title":"Neuroimage"},{"issue":"6","key":"10.1016\/j.tjog.2015.07.007_bib24","doi-asserted-by":"crossref","first-page":"618","DOI":"10.1002\/uog.7468","article-title":"Increased nuchal translucency with normal karyotype: a follow-up study of 100 cases supplemented with CGH and MLPA analyses","volume":"34","author":"Schou","year":"2009","journal-title":"Ultrasound Obstet Gynecol"},{"issue":"6","key":"10.1016\/j.tjog.2015.07.007_bib25","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1002\/uog.14880","article-title":"Genomic microarray in fetuses with increased nuchal translucency and normal karyotype\u2014a systematic review and meta-analysis","volume":"46","author":"Grande","year":"2015","journal-title":"Ultrasound Obstet Gynecol"},{"issue":"1","key":"10.1016\/j.tjog.2015.07.007_bib26","first-page":"118","article-title":"First trimester diagnosis of 13q-syndrome associated with increased fetal nuchal translucency thickness. Clinical findings and systematic review","volume":"39","author":"Manolakos","year":"2012","journal-title":"Clin Exp Obstet Gynecol"},{"issue":"2","key":"10.1016\/j.tjog.2015.07.007_bib27","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1111\/j.1471-0528.2008.01948.x","article-title":"De novo 16p13.11 microdeletion identified by high-resolution array CGH in a fetus with increased nuchal translucency","volume":"116","author":"Law","year":"2009","journal-title":"BJOG"},{"issue":"12","key":"10.1016\/j.tjog.2015.07.007_bib28","doi-asserted-by":"crossref","first-page":"892","DOI":"10.1038\/sj.ejhg.5200734","article-title":"Genomic organisation of the approximately 1.5 Mb Smith\u2013Magenis syndrome critical interval: transcription map, genomic contig, and candidate gene analysis","volume":"9","author":"Lucas","year":"2001","journal-title":"Eur J Hum Genet"}],"container-title":["Taiwanese Journal of Obstetrics and Gynecology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1028455916302054?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1028455916302054?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T15:27:35Z","timestamp":1793028455000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1028455916302054"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,12]]},"references-count":28,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2016,12]]}},"alternative-id":["S1028455916302054"],"URL":"https:\/\/doi.org\/10.1016\/j.tjog.2015.07.007","relation":{},"ISSN":["1028-4559"],"issn-type":[{"value":"1028-4559","type":"print"}],"subject":[],"published":{"date-parts":[[2016,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Prenatal diagnosis of Smith\u2013Magenis syndrome in two fetuses with increased nuchal translucency, mild lateral ventriculomegaly, and congenital heart defects","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.2015.07.007","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2016, Taiwan Association of Obstetrics & Gynecology. Published by Elsevier Taiwan LLC.","name":"copyright","label":"Copyright"}]}}