{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T10:39:12Z","timestamp":1761734352107,"version":"build-2065373602"},"reference-count":16,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2020,1]]},"DOI":"10.1016\/j.ejmg.2019.02.006","type":"journal-article","created":{"date-parts":[[2019,2,23]],"date-time":"2019-02-23T12:01:50Z","timestamp":1550923310000},"page":"103634","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"title":["Diagnosis and clinical delineation of mosaic tetrasomy 5p"],"prefix":"10.1016","volume":"63","author":[{"given":"Sophia","family":"Blakey-Cheung","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pamela","family":"Parker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William","family":"Schlaff","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brent","family":"Monseur","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kim","family":"Keppler-Noreuil","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huda B.","family":"Al-Kouatly","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2019.02.006_bib1","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1002\/ajmg.a.34272","article-title":"Mosaic tetrasomy 5p resulting from an isochromosome 5p marker chromosome: Case report and review of literature","volume":"158","author":"Brock","year":"2012","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2019.02.006_bib2","first-page":"1468","article-title":"A supernumerary marker chromosome with a neocentromere derived from 5p14-->pter","author":"Fritz","year":"2001","journal-title":"J. Med. Genet."},{"issue":"6","key":"10.1016\/j.ejmg.2019.02.006_bib3","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1002\/pd.2741","article-title":"Complete isochromosome 5p in one fetus of a monochorionic twin pair","volume":"31","author":"Grams","year":"2011","journal-title":"Prenat. Diagn."},{"issue":"2","key":"10.1016\/j.ejmg.2019.02.006_bib4","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1046\/j.1365-2133.2003.05531.x","article-title":"Pigmentary mosaicism with mosaic chromosome 5p tetrasomy","volume":"149","author":"Hansen","year":"2003","journal-title":"Br. J. Dermatol."},{"issue":"2","key":"10.1016\/j.ejmg.2019.02.006_bib5","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1002\/(SICI)1096-8628(19980901)79:2<103::AID-AJMG5>3.0.CO;2-R","article-title":"Partial tetrasomy with triplication of chromosome (5) (pl4-pl5.33) in a patient with severe multiple congenital anomalies","volume":"79","author":"Harrison","year":"1998","journal-title":"Am. J. Med. Genet."},{"issue":"4","key":"10.1016\/j.ejmg.2019.02.006_bib6","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1002\/(SICI)1096-8628(19970211)68:4<481::AID-AJMG22>3.0.CO;2-N","article-title":"Tetrasomy 5p mosaicism due to an extra i(5p) in a severely affected girl","volume":"68","author":"Lorda-S\u00e1nchez","year":"1997","journal-title":"Am. J. Med. Genet."},{"author":"Orphanet","key":"10.1016\/j.ejmg.2019.02.006_bib7"},{"issue":"5","key":"10.1016\/j.ejmg.2019.02.006_bib8","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1002\/pd.66","article-title":"Prenatal diagnosis of mosaic tetrasomy 5p","volume":"21","author":"Park","year":"2001","journal-title":"Prenat. Diagn."},{"issue":"5","key":"10.1016\/j.ejmg.2019.02.006_bib9","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1002\/pd.877","article-title":"Prenatal diagnosis of an isochromosome 5p in a fetus with increased nuchal translucency thickness and pulmonary atresia with hypoplastic right heart at 14 weeks","volume":"24","author":"Paulick","year":"2004","journal-title":"Prenat. Diagn."},{"issue":"2","key":"10.1016\/j.ejmg.2019.02.006_bib10","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1002\/ajmg.a.36843","article-title":"Unusual isochromosome 5p marker chromosome","volume":"167","author":"Roulet-Coudrier","year":"2015","journal-title":"Am. J. Med. Genet."},{"issue":"4","key":"10.1016\/j.ejmg.2019.02.006_bib11","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1002\/ajmg.1320470424","article-title":"Tetrasomy 5p mosaicism in a boy with delayed growth, hypotonia, minor anomalies, and an additional isochromosome 5p [46,XY\/47,XY,+ i (5p)]","volume":"47","author":"Sijmons","year":"1993","journal-title":"Am. J. Med. Genet."},{"issue":"6","key":"10.1016\/j.ejmg.2019.02.006_bib12","doi-asserted-by":"crossref","first-page":"774","DOI":"10.1002\/ajmg.1320450623","article-title":"Mosaic 5p tetrasomy","volume":"45","author":"Stanley","year":"1993","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2019.02.006_bib13","first-page":"11","article-title":"A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature","author":"Tesner","year":"2018","journal-title":"Mol. Cytogenet."},{"issue":"12","key":"10.1016\/j.ejmg.2019.02.006_bib14","doi-asserted-by":"crossref","first-page":"2889","DOI":"10.1002\/ajmg.a.33131","article-title":"Tetrasomy 5p mosaicism due to an additional isochromosome 5p in a man with normal phenotype","volume":"149","author":"Venci","year":"2009","journal-title":"Am. J. Med. Genet."},{"issue":"4","key":"10.1016\/j.ejmg.2019.02.006_bib15","first-page":"1","article-title":"Diagnosis of mosaic tetrasomy 5p at amniocentesis","volume":"25","author":"White","year":"1999","journal-title":"J. Assoc. Genet. Technol."},{"key":"10.1016\/j.ejmg.2019.02.006_bib16","first-page":"0197","article-title":"Isochromosome 5p mosaicism at prenatal diagnosis: observations and outcomes in six cases at chorionic villus sampling and one at amniocentesis","author":"Wilson","year":"2002","journal-title":"Prenat. Diagn."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721219300321?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721219300321?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:48:23Z","timestamp":1761709703000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721219300321"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,1]]},"references-count":16,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,1]]}},"alternative-id":["S1769721219300321"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2019.02.006","relation":{},"ISSN":["1769-7212"],"issn-type":[{"type":"print","value":"1769-7212"}],"subject":[],"published":{"date-parts":[[2020,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Diagnosis and clinical delineation of mosaic tetrasomy 5p","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2019.02.006","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"103634"}}