{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T04:31:29Z","timestamp":1775277089864,"version":"3.50.1"},"reference-count":44,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2015,6,1]],"date-time":"2015-06-01T00:00:00Z","timestamp":1433116800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,6,1]],"date-time":"2015-06-01T00:00:00Z","timestamp":1433116800000},"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":215,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004663","name":"Ministry of Science and Technology","doi-asserted-by":"publisher","award":["NSC-101-2314-B-195-011-MY3"],"award-info":[{"award-number":["NSC-101-2314-B-195-011-MY3"]}],"id":[{"id":"10.13039\/501100004663","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004663","name":"Ministry of Science and Technology","doi-asserted-by":"publisher","award":["MOST 103-2314-B-195-010"],"award-info":[{"award-number":["MOST 103-2314-B-195-010"]}],"id":[{"id":"10.13039\/501100004663","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004861","name":"Mackay Memorial Hospital, Taipei, Taiwan","doi-asserted-by":"publisher","award":["MMH-E-103-04"],"award-info":[{"award-number":["MMH-E-103-04"]}],"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":[[2015,6]]},"DOI":"10.1016\/j.tjog.2015.04.001","type":"journal-article","created":{"date-parts":[[2015,7,9]],"date-time":"2015-07-09T23:03:19Z","timestamp":1436482999000},"page":"297-302","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":7,"title":["Distal 3p duplication and terminal 7q deletion associated with nuchal edema and cyclopia in a fetus and a review of the literature"],"prefix":"10.1016","volume":"54","author":[{"given":"Chih-Ping","family":"Chen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ming-Chao","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Schu-Rern","family":"Chern","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu-Ling","family":"Kuo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yen-Ni","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peih-Shan","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li-Feng","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chen-Wen","family":"Pan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wayseen","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.tjog.2015.04.001_bib1","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1002\/ajmg.c.30232","article-title":"Holoprosencephaly due to numeric chromosome abnormalities","volume":"154C","author":"Solomon","year":"2010","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"10.1016\/j.tjog.2015.04.001_bib2","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1002\/ajmg.c.30250","article-title":"Holoprosencephaly: an update on cytogenetic abnormalities","volume":"154C","author":"Bendavid","year":"2010","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"10.1016\/j.tjog.2015.04.001_bib3","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1016\/j.tjog.2012.07.021","article-title":"Monozygotic twins with trisomy 18 of paternal origin: prenatal diagnosis and molecular cytogenetic characterization in a pregnancy with one structurally abnormal living fetus and one intrauterine fetal demise","volume":"51","author":"Chen","year":"2012","journal-title":"Taiwan J Obstet Gynecol"},{"key":"10.1016\/j.tjog.2015.04.001_bib4","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1016\/j.tjog.2013.10.033","article-title":"First-trimester sonographic demonstration of digynic triploidy","volume":"52","author":"Chen","year":"2013","journal-title":"Taiwan J Obstet Gynecol"},{"key":"10.1016\/j.tjog.2015.04.001_bib5","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1016\/j.gene.2013.06.081","article-title":"Chromosome 18p deletion syndrome presenting holoprosencephaly and premaxillary agenesis: prenatal diagnosis and aCGH characterization using uncultured amniocytes","volume":"527","author":"Chen","year":"2013","journal-title":"Gene"},{"key":"10.1016\/j.tjog.2015.04.001_bib6","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1016\/j.tjog.2013.10.030","article-title":"Prenatal diagnosis of de novo monosomy 7q33-qter associated with hydrops fetalis, semilobar holoprosencephaly, and premaxillary dysgenesis","volume":"52","author":"Sung","year":"2013","journal-title":"Taiwan J Obstet Gynecol"},{"key":"10.1016\/j.tjog.2015.04.001_bib7","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1002\/ajmg.c.30236","article-title":"The molecular genetics of holoprosencephaly","volume":"154C","author":"Roessler","year":"2010","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"10.1016\/j.tjog.2015.04.001_bib8","series-title":"GeneReviews [Internet]","article-title":"Holoprosencephaly Overview","author":"Solomon","year":"1993"},{"issue":"Suppl.","key":"10.1016\/j.tjog.2015.04.001_bib9","first-page":"1048","article-title":"Linkage of familial holoprosencephaly to chromosome 7q36: clinical and molecular studies","volume":"53","author":"Muenke","year":"1993","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.tjog.2015.04.001_bib10","doi-asserted-by":"crossref","first-page":"8102","DOI":"10.1073\/pnas.91.17.8102","article-title":"Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity","volume":"91","author":"Muenke","year":"1994","journal-title":"Proc Nat Acad Sci"},{"key":"10.1016\/j.tjog.2015.04.001_bib11","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1038\/ng1196-353","article-title":"Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly","volume":"14","author":"Belloni","year":"1996","journal-title":"Nat Genet"},{"key":"10.1016\/j.tjog.2015.04.001_bib12","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1038\/ng1196-357","article-title":"Mutations in the human Sonic hedgehog gene cause holoprosencephaly","volume":"14","author":"Roessler","year":"1996","journal-title":"Nat Genet"},{"key":"10.1016\/j.tjog.2015.04.001_bib13","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1007\/s004390050486","article-title":"Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly","volume":"100","author":"Roessler","year":"1997","journal-title":"Hum Genet"},{"key":"10.1016\/j.tjog.2015.04.001_bib14","doi-asserted-by":"crossref","first-page":"2479","DOI":"10.1093\/hmg\/8.13.2479","article-title":"The mutational spectrum of the Sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly","volume":"8","author":"Nanni","year":"1999","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.tjog.2015.04.001_bib15","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1111\/j.1399-0004.1977.tb00932.x","article-title":"7q deletion syndrome (7q32\u21927qter)","volume":"12","author":"Harris","year":"1977","journal-title":"Clin Genet"},{"key":"10.1016\/j.tjog.2015.04.001_bib16","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1111\/j.1399-0004.1996.tb02382.x","article-title":"Prenatal diagnosis of terminal deletion 7q and partial trisomy 3p in fetuses with holoprosencephaly","volume":"50","author":"Chen","year":"1996","journal-title":"Clin Genet"},{"key":"10.1016\/j.tjog.2015.04.001_bib17","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1002\/pd.602","article-title":"Prenatal diagnosis of de novo terminal deletion of chromosome 7q","volume":"23","author":"Chen","year":"2003","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.tjog.2015.04.001_bib18","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1002\/(SICI)1096-8628(19980113)75:2<153::AID-AJMG6>3.0.CO;2-U","article-title":"De novo 7q36 deletion: breakpoint analysis and types of holoprosencephaly","volume":"75","author":"Frints","year":"1998","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.tjog.2015.04.001_bib19","first-page":"5","article-title":"Strong variable clinical presentation in 3 patients with 7q terminal deletion","volume":"9","author":"Frints","year":"1998","journal-title":"Genet Couns"},{"key":"10.1016\/j.tjog.2015.04.001_bib20","series-title":"Holoprosencephaly: An Overview and Atlas of Cases","first-page":"362","author":"Siebert","year":"1990"},{"key":"10.1016\/j.tjog.2015.04.001_bib21","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1111\/j.1399-0004.1995.tb04054.x","article-title":"Molecular characterization of trisomic segment 3p24.1\u21923pter: a case with review of the literature","volume":"48","author":"Conte","year":"1995","journal-title":"Clin Genet"},{"key":"10.1016\/j.tjog.2015.04.001_bib22","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1002\/(SICI)1096-8628(20000320)91:3<167::AID-AJMG1>3.0.CO;2-Z","article-title":"Inverted duplication of the distal short arm of chromosome 3 associated with lobar holoprosencephaly and lumbosacral meningomyelocele","volume":"91","author":"Kennedy","year":"2000","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.tjog.2015.04.001_bib23","first-page":"85","article-title":"Partial distal trisomy 3p. A partial autosomal trisomy without major dysmorphic features","volume":"12","author":"Smeets","year":"2001","journal-title":"Genet Couns"},{"key":"10.1016\/j.tjog.2015.04.001_bib24","doi-asserted-by":"crossref","first-page":"986","DOI":"10.1002\/(SICI)1097-0223(199910)19:10<986::AID-PD672>3.0.CO;2-H","article-title":"Prenatal diagnosis of partial trisomy 3p (3p23\u2192pter) and monosomy 7q (7q36\u2192qter) in a fetus with microcephaly, alobar holoprosencephaly and cyclopia","volume":"19","author":"Chen","year":"1999","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.tjog.2015.04.001_bib25","doi-asserted-by":"crossref","first-page":"658","DOI":"10.1016\/j.ejmg.2008.07.011","article-title":"Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly","volume":"51","author":"Ginocchio","year":"2008","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.tjog.2015.04.001_bib26","first-page":"169","article-title":"Familial occurrence of cyclops over several generations","volume":"66","author":"Pfitzer","year":"1982","journal-title":"Verh Dtsch Ges Pathol"},{"key":"10.1016\/j.tjog.2015.04.001_bib27","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1002\/ajmg.1320270105","article-title":"Duplication 3p21\u20133pter and cyclopia","volume":"27","author":"Kurtzman","year":"1987","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.tjog.2015.04.001_bib28","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1111\/j.1399-0004.1989.tb03200.x","article-title":"Case of cyclopia with an unbalanced karyotype attributable to a balanced 3\/7 translocation","volume":"36","author":"B\u00fcrrig","year":"1989","journal-title":"Clin Genet"},{"issue":"Suppl.","key":"10.1016\/j.tjog.2015.04.001_bib29","first-page":"279","article-title":"Minor chromosome abnormalities in prenatal diagnosis: a counselling dilemma","volume":"47","author":"Kent","year":"1990","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.tjog.2015.04.001_bib30","series-title":"Proceedings of the 13th D.W. Smith Workshop on Malformations and Morphogenesis","first-page":"59","article-title":"Clinical cytogenetic, and molecular genetic studies in patients with holoprosencephaly (HPE) and terminal deletions of chromosome 7q","author":"Gurrieri","year":"1992"},{"key":"10.1016\/j.tjog.2015.04.001_bib31","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1002\/ajmg.1320430336","article-title":"Pallister\u2013Hall syndrome associated with an unbalanced chromosome translocation","volume":"43","author":"Kuller","year":"1992","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.tjog.2015.04.001_bib32","doi-asserted-by":"crossref","first-page":"631","DOI":"10.7863\/jum.1995.14.8.631","article-title":"First trimester diagnosis of cyclopia and holoprosencephaly","volume":"14","author":"Van Zalen-Sprock","year":"1995","journal-title":"J\u00a0Ultrasound Med"},{"key":"10.1016\/j.tjog.2015.04.001_bib33","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1002\/(SICI)1096-8628(19980226)76:1<51::AID-AJMG9>3.0.CO;2-S","article-title":"Molecular cytogenetic analysis of patients with holoprosencephaly and structural rearrangements of 7q","volume":"76","author":"Vance","year":"1998","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.tjog.2015.04.001_bib34","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1136\/jmg.18.2.119","article-title":"Familial chromosome translocation t(3;18)(p21;p11)","volume":"18","author":"Buchinger","year":"1981","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.tjog.2015.04.001_bib35","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1002\/ajmg.1320140418","article-title":"The dup(3p)(p25-pter) syndrome: a case with holoprosencephaly","volume":"14","author":"Martin","year":"1983","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.tjog.2015.04.001_bib36","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1007\/BF00445671","article-title":"Partial trisomy 3p in two siblings: clinical and pathological findings","volume":"141","author":"Van Regemorter","year":"1983","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.tjog.2015.04.001_bib37","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1002\/ajmg.1320200217","article-title":"Dup(3)(p2-pter) in two families, including one infant with cyclopia","volume":"20","author":"Gimelli","year":"1985","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.tjog.2015.04.001_bib38","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1002\/ajmg.1320260134","article-title":"Prenatal diagnosis of a dup(3p) with holoprosencephaly","volume":"26","author":"Gillerot","year":"1987","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.tjog.2015.04.001_bib39","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1007\/s00439-002-0709-3","article-title":"A\u00a0loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects","volume":"110","author":"de la Cruz","year":"2002","journal-title":"Hum Genet"},{"key":"10.1016\/j.tjog.2015.04.001_bib40","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1002\/(SICI)1096-8628(19991029)86:5<482::AID-AJMG15>3.0.CO;2-L","article-title":"CALL gene is haploinsufficient in a 3p- syndrome patient","volume":"86","author":"Angeloni","year":"1999","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.tjog.2015.04.001_bib41","doi-asserted-by":"crossref","first-page":"1463","DOI":"10.1093\/hmg\/ddg165","article-title":"CALL interrupted in a patient with non-specific mental retardation: gene dosage-dependent alteration of murine brain development and behavior","volume":"12","author":"Frints","year":"2003","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.tjog.2015.04.001_bib42","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1002\/ajmg.a.20332","article-title":"Segregation of a t(1;3) translocation in multiple affected family members with both types of adjacent-1 segregants","volume":"124A","author":"Kozma","year":"2004","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.tjog.2015.04.001_bib43","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1007\/s100380200073","article-title":"A\u00a0novel splice variant of the cell adhesion molecule contactin 4 (CNTN4) is mainly expressed in human brain","volume":"47","author":"Zeng","year":"2002","journal-title":"J\u00a0Hum Genet"},{"key":"10.1016\/j.tjog.2015.04.001_bib44","doi-asserted-by":"crossref","first-page":"1286","DOI":"10.1086\/421474","article-title":"Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome","volume":"74","author":"Fernandez","year":"2004","journal-title":"Am J Hum Genet"}],"container-title":["Taiwanese Journal of Obstetrics and Gynecology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1028455915000832?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1028455915000832?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T18:13:28Z","timestamp":1760897608000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1028455915000832"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,6]]},"references-count":44,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2015,6]]}},"alternative-id":["S1028455915000832"],"URL":"https:\/\/doi.org\/10.1016\/j.tjog.2015.04.001","relation":{},"ISSN":["1028-4559"],"issn-type":[{"value":"1028-4559","type":"print"}],"subject":[],"published":{"date-parts":[[2015,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Distal 3p duplication and terminal 7q deletion associated with nuchal edema and cyclopia in a fetus and a review of the literature","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.2015.04.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 Published by Elsevier B.V.","name":"copyright","label":"Copyright"}]}}