{"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":1793029358611,"version":"4.5.0"},"reference-count":17,"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\/"}],"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.2016.07.010","type":"journal-article","created":{"date-parts":[[2016,12,28]],"date-time":"2016-12-28T11:30:40Z","timestamp":1482924640000},"page":"863-866","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":12,"title":["Pallister\u2013Killian syndrome: Cytogenetics and molecular investigations of mosaic tetrasomy 12p in prenatal chorionic villus and in amniocytes. Strategy of prenatal diagnosis"],"prefix":"10.1016","volume":"55","author":[{"given":"Francesco","family":"Libotte","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Domenico","family":"Bizzoco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivan","family":"Gabrielli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alvaro","family":"Mesoraca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pietro","family":"Cignini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salvatore Giovanni","family":"Vitale","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilaria","family":"Marilli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ferdinando Antonio","family":"Gulino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agnese Maria Chiara","family":"Rapisarda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudio","family":"Giorlandino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.tjog.2016.07.010_bib1","first-page":"103","article-title":"The Pallister mosaic syndrome","volume":"13","author":"Pallister","year":"1977","journal-title":"Birth Defects Orig Artic Ser"},{"key":"10.1016\/j.tjog.2016.07.010_bib2","first-page":"6","article-title":"Case report 72: mental retardation, unusual facial appearance abnormal hair","volume":"7","author":"Killian","year":"1981","journal-title":"Synd Ident"},{"key":"10.1016\/j.tjog.2016.07.010_bib3","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1002\/ajmg.c.31423","article-title":"Pallister\u2013Killian syndrome","volume":"166C","author":"Izumi","year":"2014","journal-title":"Am J Med Gen C Semin Med Genet"},{"key":"10.1016\/j.tjog.2016.07.010_bib4","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1016\/j.ejmg.2005.04.018","article-title":"Tetrasomy 12pter-12p13.31 in a girl with partial Pallister\u2013Killian syndrome phenotype","volume":"48","author":"Vermeesch","year":"2005","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.tjog.2016.07.010_bib5","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1002\/(SICI)1097-0223(199703)17:3<255::AID-PD49>3.0.CO;2-T","article-title":"The use of interphase for prenatal diagnosis of Pallister\u2013Killian syndrome","volume":"17","author":"Mowery-Rushton","year":"1997","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.tjog.2016.07.010_bib6","doi-asserted-by":"crossref","first-page":"e108853","DOI":"10.1371\/journal.pone.0108853","article-title":"Genome-wide expression analysis in fibroblast cell lines from probands with Pallister Killian syndrome","volume":"9","author":"Kaur","year":"2014","journal-title":"PLoS One"},{"key":"10.1016\/j.tjog.2016.07.010_bib7","doi-asserted-by":"crossref","first-page":"670","DOI":"10.1002\/1097-0223(200008)20:8<670::AID-PD885>3.0.CO;2-U","article-title":"Pallister\u2013Killian syndrome presenting through nuchal translucency screening for trisomy 21","volume":"20","author":"Langford","year":"2000","journal-title":"Prenat Diagn"},{"issue":"2","key":"10.1016\/j.tjog.2016.07.010_bib8","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1111\/j.1399-0004.1997.tb02429.x","article-title":"Clinical variability of tetrasomy 12p","volume":"51","author":"Schaefer","year":"1997","journal-title":"Clin Genet"},{"key":"10.1016\/j.tjog.2016.07.010_bib9","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1002\/pd.342","article-title":"Pallister\u2013Killian syndrome: difficulties of prenatal diagnosis","volume":"22","author":"Doray","year":"2002","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.tjog.2016.07.010_bib10","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1369\/jhc.4A6402.2005","article-title":"Pallister\u2013Killian syndrome: rapid decrease of isochromosome 12p frequency during amniocyte subculturing. Conclusion for strategy of prenatal cytogenetic diagnostics","volume":"53","author":"Polityko","year":"2005","journal-title":"J\u00a0Histochem Cytochem"},{"key":"10.1016\/j.tjog.2016.07.010_bib11","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1111\/j.1399-0004.1985.tb01217.x","article-title":"The characteristic physiognomy and tissue specific karyotype distribution in the Pallister\u2013Killian syndrome","volume":"28","author":"Hunter","year":"1985","journal-title":"Clin Genet"},{"key":"10.1016\/j.tjog.2016.07.010_bib12","doi-asserted-by":"crossref","first-page":"1270","DOI":"10.1002\/pd.2884","article-title":"Introducing array comparative genomic hybridization into routine prenatal diagnosis practice: a prospective study on over 1000 consecutive clinical cases","volume":"31","author":"Fiorentino","year":"2011","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.tjog.2016.07.010_bib13","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1159\/000353118","article-title":"Cytogenetic nomenclature: changes in the ISCN 2013 compared to the 2009 edition","volume":"141","author":"Simons","year":"2013","journal-title":"Cytogenet Genome Res"},{"key":"10.1016\/j.tjog.2016.07.010_bib14","first-page":"3482","article-title":"Pallister\u2013Killian syndrome: meiosis II non-disjunction may be the first step in the formation of isochromosome 12p","volume":"123","author":"Shen","year":"2010","journal-title":"Chin Med J (Engl)"},{"issue":"123A","key":"10.1016\/j.tjog.2016.07.010_bib15","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1002\/ajmg.a.20339","article-title":"Clinical, cytogenetic, and molecular observations in a patient with Pallister\u2013Killian-syndrome with an unusual karyotype","volume":"15","author":"Leube","year":"2003","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.tjog.2016.07.010_bib16","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1111\/j.1399-0004.1998.tb03731.x","article-title":"Pallister\u2013Killian syndrome [i(12p)]: first pre-natal diagnosis using cordocentesis in the second trimester confirmed by in situ hybridization","volume":"54","author":"Chiesa","year":"1998","journal-title":"Clin Genet"},{"key":"10.1016\/j.tjog.2016.07.010_bib17","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1186\/1755-8166-6-55","article-title":"Multicolor banding remains an important adjunct to array CGH and conventional karyotyping","volume":"6","author":"Bint","year":"2013","journal-title":"Mol Cytogenet"}],"container-title":["Taiwanese Journal of Obstetrics and Gynecology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1028455916302005?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1028455916302005?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T15:27:31Z","timestamp":1793028451000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1028455916302005"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,12]]},"references-count":17,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2016,12]]}},"alternative-id":["S1028455916302005"],"URL":"https:\/\/doi.org\/10.1016\/j.tjog.2016.07.010","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":"Pallister\u2013Killian syndrome: Cytogenetics and molecular investigations of mosaic tetrasomy 12p in prenatal chorionic villus and in amniocytes. Strategy of prenatal diagnosis","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.2016.07.010","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"}]}}