{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T10:19:35Z","timestamp":1761733175312,"version":"build-2065373602"},"reference-count":24,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2006,9,1]],"date-time":"2006-09-01T00:00:00Z","timestamp":1157068800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2006,9,1]],"date-time":"2006-09-01T00:00:00Z","timestamp":1157068800000},"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":[[2006,9]]},"DOI":"10.1016\/j.ejmg.2006.01.008","type":"journal-article","created":{"date-parts":[[2006,2,11]],"date-time":"2006-02-11T07:14:40Z","timestamp":1139642080000},"page":"431-438","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":14,"title":["Unbalanced inherited complex chromosome rearrangement involving chromosome 8, 10, 11\u00a0and 16\u00a0in a\u00a0patient with congenital malformations and\u00a0delayed development"],"prefix":"10.1016","volume":"49","author":[{"given":"Houda","family":"Karmous-Benailly","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabienne","family":"Giuliano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christophe","family":"Massol","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine","family":"Bloch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dominique","family":"De Ricaud","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean-Claude","family":"Lambert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serge","family":"Perelman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2006.01.008_bib1","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1002\/ajmg.1320530311","article-title":"Molecular analysis of a complex chromosomal rearrangement and a review of familial cases","volume":"53","author":"Batista","year":"1994","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2006.01.008_bib2","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1002\/ajmg.a.10149","article-title":"De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalities","volume":"17","author":"Battisti","year":"2003","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.ejmg.2006.01.008_bib3","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1136\/jmg.25.5.326","article-title":"Are double translocations double trouble?","volume":"25","author":"Bowser-Riley","year":"1988","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2006.01.008_bib4","first-page":"5","article-title":"The origin of chromosomal aberrations in man and their potential for survival and reproduction in the adult human population","volume":"24","author":"Chandley","year":"1981","journal-title":"Ann. Genet."},{"key":"10.1016\/j.ejmg.2006.01.008_bib5","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1038\/ng0896-458","article-title":"A common region of 10p deleted in DiGeorge and velocardiofacial syndromes","volume":"13","author":"Daw","year":"1996","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejmg.2006.01.008_bib6","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1002\/ajmg.1320290202","article-title":"Reproductive risks for carriers of complex chromosome rearrangements: analysis of 25 families","volume":"29","author":"Gorski","year":"1988","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2006.01.008_bib7","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/S0003-3995(01)01077-2","article-title":"A complex chromosome rearrangement involving chromosome 8, 11, and 12 analyzed by conventional cytogenetic investigations, fluorescence in situ hybridization, and spectral karyotyping","volume":"44","author":"Kotzot","year":"2001","journal-title":"Ann. Genet."},{"key":"10.1016\/j.ejmg.2006.01.008_bib8","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1016\/j.anngen.2004.05.002","article-title":"Balanced complex chromosomal rearrangements (BCCR) with at least three chromosomes and three or more breakpoints: report of three new cases","volume":"47","author":"Lespinasse","year":"2004","journal-title":"Ann. Genet."},{"key":"10.1016\/j.ejmg.2006.01.008_bib9","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1136\/jmg.37.1.33","article-title":"An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13\/14","volume":"37","author":"Lichtner","year":"2000","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2006.01.008_bib10","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1007\/s00109-002-0331-9","article-title":"Expression and mutation analysis of BRUNOL3, a candidate gene for heart and thymus developmental defects associated with partial monosomy 10p","volume":"80","author":"Lichtner","year":"2002","journal-title":"J. Mol. Med."},{"key":"10.1016\/j.ejmg.2006.01.008_bib11","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1080\/09553009214551821","article-title":"Rapid translocation frequency analysis in humans decades after exposure to ionizing radiation","volume":"62","author":"Lucas","year":"1992","journal-title":"Int. J. Radiat. Biol."},{"key":"10.1016\/j.ejmg.2006.01.008_bib12","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1111\/j.1399-0004.1994.tb04234.x","article-title":"Complex chromosomal rearrangements: some breakpoints may have cellular adaptive significance","volume":"46","author":"Lurie","year":"1994","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ejmg.2006.01.008_bib13","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1136\/jmg.38.6.374","article-title":"GATA3 abnormalities and the phenotypic spectrum of HDR syndrome","volume":"38","author":"Muroya","year":"2001","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2006.01.008_bib14","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1111\/j.1399-0004.1980.tb01790.x","article-title":"Complex chromosome rearrangements. Report of a new case and literature review","volume":"18","author":"Pai","year":"1980","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ejmg.2006.01.008_bib15","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1038\/sj.ejhg.5201211","article-title":"Fluorescence in situ hybridization characterization of apparently balanced translocation reveals cryptic complex chromosomal rearrangements with unexpected level of complexity","volume":"12","author":"Patsalis","year":"2004","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2006.01.008_bib16","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1038\/sj.ejhg.5200183","article-title":"Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2)","volume":"6","author":"Schuffenhauer","year":"1998","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2006.01.008_bib17","doi-asserted-by":"crossref","first-page":"847","DOI":"10.1093\/molehr\/3.10.847","article-title":"Assisted reproductive technology and complex chromosomal rearrangements: the limits of ICSI","volume":"3","author":"Siffroi","year":"1997","journal-title":"Mol. Hum. Reprod."},{"key":"10.1016\/j.ejmg.2006.01.008_bib18","doi-asserted-by":"crossref","first-page":"1296","DOI":"10.1007\/PL00000940","article-title":"Transcription factor GATA3 and the human HDR syndrome","volume":"58","author":"Van Esch","year":"2001","journal-title":"Cell. Mol. Life Sci."},{"key":"10.1016\/j.ejmg.2006.01.008_bib19","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1007\/s004390000398","article-title":"Interchromosomal insertions. Identification of five cases and a review","volume":"107","author":"Van Hemel","year":"2000","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ejmg.2006.01.008_bib20","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1002\/ajmg.a.20378","article-title":"Molecular cytogenetic analysis of complex chromosomal rearrangements in patients with mental retardation and congenital malformations: delineation of 7q21.11 breakpoints","volume":"124","author":"Vermeulen","year":"2004","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2006.01.008_bib21","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1006\/geno.2002.7009","article-title":"Genetic and comparative mapping of genes dysregulated in mouse hearts lacking the Hand2 transcription factor gene","volume":"80","author":"Villanueva","year":"2002","journal-title":"Genomics"},{"key":"10.1016\/j.ejmg.2006.01.008_bib22","first-page":"995","article-title":"De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints","volume":"49","author":"Warburton","year":"1991","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2006.01.008_bib23","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1111\/j.1399-0004.2004.00290.x","article-title":"Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome","volume":"66","author":"Yatsenko","year":"2004","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ejmg.2006.01.008_bib24","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1007\/s10803-005-3307-0","article-title":"A girl with pervasive developmental disorder and complex chromosome rearrangement involving 8p and 10p","volume":"35","author":"Zwaigenbaum","year":"2005","journal-title":"J. Autism Dev. Disord."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721206000073?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721206000073?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:34:32Z","timestamp":1761708872000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721206000073"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,9]]},"references-count":24,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2006,9]]}},"alternative-id":["S1769721206000073"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2006.01.008","relation":{},"ISSN":["1769-7212"],"issn-type":[{"type":"print","value":"1769-7212"}],"subject":[],"published":{"date-parts":[[2006,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Unbalanced inherited complex chromosome rearrangement involving chromosome 8, 10, 11\u00a0and 16\u00a0in a\u00a0patient with congenital malformations and\u00a0delayed development","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2006.01.008","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"}]}}