{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T15:44:27Z","timestamp":1764171867271,"version":"build-2065373602"},"reference-count":18,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2007,3,1]],"date-time":"2007-03-01T00:00:00Z","timestamp":1172707200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2007,3,1]],"date-time":"2007-03-01T00:00:00Z","timestamp":1172707200000},"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":[[2007,3]]},"DOI":"10.1016\/j.ejmg.2006.11.001","type":"journal-article","created":{"date-parts":[[2006,11,29]],"date-time":"2006-11-29T17:27:33Z","timestamp":1164821253000},"page":"94-102","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":8,"title":["Five cases of supernumerary small ring chromosomes 1: Heterogeneity and genotype\u2013phenotype correlation"],"prefix":"10.1016","volume":"50","author":[{"given":"Laura","family":"Bernardini","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Capalbo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Gabriella","family":"D'Avanzo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabella","family":"Torrente","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Grammatico","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Domenico","family":"Dell'Edera","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Denise Pontes","family":"Cavalcanti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Novelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruno","family":"Dallapiccola","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2006.11.001_bib1","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.1101\/gr.187101","article-title":"Segmental duplications: organization and impact within the current human genome project assembly","volume":"11","author":"Bailey","year":"2001","journal-title":"Genome Res."},{"key":"10.1016\/j.ejmg.2006.11.001_bib2","doi-asserted-by":"crossref","first-page":"1019","DOI":"10.1002\/pd.1970141103","article-title":"Swedish survey on extra structurally abnormal chromosomes in 39105 consecutive prenatal diagnoses: prevalence and characterization by fluorescence in situ hybridization","volume":"14","author":"Blennow","year":"1994","journal-title":"Prenat. Diagn."},{"key":"10.1016\/j.ejmg.2006.11.001_bib3","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1136\/jmg.33.5.399","article-title":"Small extra ring chromosome derived from chromosome 10p: clinical report and characterization by FISH","volume":"33","author":"Blennow","year":"1996","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2006.11.001_bib4","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1002\/ajmg.1320560221","article-title":"Identification of supernumerary ring chromosome 1 mosaicism using fluorescence in situ hybridization","volume":"56","author":"Chen","year":"1995","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2006.11.001_bib5","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1002\/(SICI)1096-8628(19980203)75:4<355::AID-AJMG4>3.0.CO;2-P","article-title":"FISH and molecular study of autosomal supernumerary marker chromosomes excluding those derived from chromosomes 15 and 22: I. Results of 26 new cases","volume":"75","author":"Crolla","year":"1998","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2006.11.001_bib6","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1002\/ajmg.a.10100","article-title":"A series of supernumerary small ring marker autosomes identified by FISH with chromosome probe arrays and literature review excluding chromosome 15","volume":"117A","author":"Daniel","year":"2003","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2006.11.001_bib7","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1002\/ajmg.1494","article-title":"Mosaic trisomy of a small r(1) with an abnormal phenotype","volume":"103","author":"Dawson","year":"2001","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2006.11.001_bib8","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1002\/(SICI)1096-8628(19990604)84:4<377::AID-AJMG14>3.0.CO;2-U","article-title":"FISH characterization of two supernumerary r(1) associated with distinct clinical phenotypes","volume":"84","author":"Giardino","year":"1999","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2006.11.001_bib9","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1136\/jmg.39.10.775","article-title":"Supernumerary marker chromosomes (SMC) and uniparental disomy (UPD): coincidence or consequence?","volume":"39","author":"Kotzot","year":"2002","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2006.11.001_bib10","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1002\/(SICI)1097-0223(200002)20:2<138::AID-PD772>3.0.CO;2-2","article-title":"Characterization and clinical implications of marker chromosomes identified at prenatal diagnosis","volume":"20","author":"Li","year":"2000","journal-title":"Prenat. Diagn."},{"key":"10.1016\/j.ejmg.2006.11.001_bib11","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1159\/000079572","article-title":"Small supernumerary marker chromosomes (sSMC) in humans","volume":"107","author":"Liehr","year":"2004","journal-title":"Cytogenet. Genome Res."},{"key":"10.1016\/j.ejmg.2006.11.001_bib12","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1159\/000087510","article-title":"Small supernumerary marker chromosomes\u2014progress towards a genotype\u2013phenotype correlation","volume":"112","author":"Liehr","year":"2006","journal-title":"Cytogenet. Genome Res."},{"key":"10.1016\/j.ejmg.2006.11.001_bib13","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1002\/ajmg.1320460115","article-title":"Identification, counselling, and outcome of two cases of prenatally diagnosed supernumerary small ring chromosomes","volume":"46","author":"Michalski","year":"1993","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2006.11.001_bib14","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1097\/00019605-200510000-00001","article-title":"Three new cases with a supernumerary ring chromosome 1","volume":"14","author":"Rodriguez","year":"2005","journal-title":"Clin. Dysmorphol."},{"key":"10.1016\/j.ejmg.2006.11.001_bib15","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1136\/jmg.38.12.885","article-title":"Supernumerary marker chromosome (1) of paternal origin and maternal uniparental disomy 1 in a developmentally delayed child","volume":"38","author":"R\u00f6thlisberger","year":"2001","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2006.11.001_bib16","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1002\/pd.1970070204","article-title":"Marker chromosome in a series of 10,000 prenatal diagnoses. Cytogenetic and follow-up studies","volume":"7","author":"Sachs","year":"1987","journal-title":"Prenat. Diagn."},{"key":"10.1016\/j.ejmg.2006.11.001_bib17","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1002\/ajmg.a.20225","article-title":"Characterization of a supernumerary ring chromosome 1 mosaicism in two cell systems by molecular cytogenetic techniques and review of the literature","volume":"121A","author":"T\u00f6nnies","year":"2003","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2006.11.001_bib18","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1002\/ajmg.1320360426","article-title":"Karyotype\/phenotype controversy: genetic and molecular implications of alternative hypotheses","volume":"36","author":"Wilson","year":"1990","journal-title":"Am. J. Med. Genet."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721206001261?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721206001261?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:35:05Z","timestamp":1761708905000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721206001261"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,3]]},"references-count":18,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2007,3]]}},"alternative-id":["S1769721206001261"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2006.11.001","relation":{},"ISSN":["1769-7212"],"issn-type":[{"type":"print","value":"1769-7212"}],"subject":[],"published":{"date-parts":[[2007,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Five cases of supernumerary small ring chromosomes 1: Heterogeneity and genotype\u2013phenotype correlation","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2006.11.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2006 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}