{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T10:20:27Z","timestamp":1761733227572,"version":"build-2065373602"},"reference-count":20,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2008,3,1]],"date-time":"2008-03-01T00:00:00Z","timestamp":1204329600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2008,3,1]],"date-time":"2008-03-01T00:00:00Z","timestamp":1204329600000},"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":[[2008,3]]},"DOI":"10.1016\/j.ejmg.2007.11.005","type":"journal-article","created":{"date-parts":[[2007,12,10]],"date-time":"2007-12-10T15:06:14Z","timestamp":1197299174000},"page":"148-155","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"title":["Concurrent transposition of distal 6p and 20q to the 22q telomere: A recurrent benign chromosomal variant"],"prefix":"10.1016","volume":"51","author":[{"given":"Maria Clara","family":"Bonaglia","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Giorda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvana","family":"Beri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gregory B.","family":"Peters","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edwin P.","family":"Kirk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorothy","family":"Hung","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Ciccone","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giulietta","family":"Gottardi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Orsetta","family":"Zuffardi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2007.11.005_bib1","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1136\/jmg.2004.026955","article-title":"Directly transmitted unbalanced chromosome abnormalities and euchromatic variants","volume":"42","author":"Barber","year":"2005","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2007.11.005_bib2","doi-asserted-by":"crossref","first-page":"1356","DOI":"10.1016\/S0002-9297(07)62969-3","article-title":"The promise and pitfalls of telomere region-specific probes","volume":"67","author":"Ballif","year":"2000","journal-title":"Am. J. Hum. Genet."},{"issue":"8","key":"10.1016\/j.ejmg.2007.11.005_bib3","doi-asserted-by":"crossref","first-page":"e94","DOI":"10.1136\/jmg.40.8.e94","article-title":"Distal trisomy 6p and 20q owing to the concurrent transposition of distal 6p and 20q to the 22q telomere: a genomic polymorphism?","volume":"40","author":"Bonaglia","year":"2003","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2007.11.005_bib4","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1016\/j.ejmg.2006.07.001","article-title":"Subtelomeric trisomy 21q: a new benign chromosomal variant","volume":"50","author":"Bonaglia","year":"2007","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2007.11.005_bib5","doi-asserted-by":"crossref","first-page":"958","DOI":"10.1002\/humu.20537","article-title":"Subtelomeric imbalances in phenotypically normal individuals","volume":"28","author":"Balikova","year":"2007","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ejmg.2007.11.005_bib6","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1002\/ajmg.a.30263","article-title":"Precision in phenotyping and genotyping","volume":"131","author":"Cody","year":"2004","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2007.11.005_bib7","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1038\/ng1697","article-title":"A high-resolution survey of deletion polymorphism in the human genome","volume":"38","author":"Conrad","year":"2006","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejmg.2007.11.005_bib8","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1136\/jmg.38.3.145","article-title":"Clinical studies on submicroscopic subtelomeric rearrangements: a checklist","volume":"38","author":"de Vries","year":"2001","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2007.11.005_bib9","doi-asserted-by":"crossref","first-page":"1434","DOI":"10.1126\/science.1101160","article-title":"The influence of CCL3L1 gene-containing segmental duplications on HIV-1\/AIDS susceptibility","volume":"307","author":"Gonzalez","year":"2005","journal-title":"Science"},{"key":"10.1016\/j.ejmg.2007.11.005_bib10","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1038\/ng1416","article-title":"Detection of large-scale variation in the human genome","volume":"36","author":"Iafrate","year":"2004","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejmg.2007.11.005_bib11","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1007\/s004390100588","article-title":"Subtelomeric rearrangements: results from a study of selected and unselected probands with idiopathic mental retardation and control individuals by using high-resolution G-banding and FISH","volume":"109","author":"Joyce","year":"2001","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ejmg.2007.11.005_bib12","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1136\/jmg.37.6.401","article-title":"Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis","volume":"37","author":"Knight","year":"2000","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2007.11.005_bib13","doi-asserted-by":"crossref","first-page":"1676","DOI":"10.1016\/S0140-6736(99)03070-6","article-title":"Subtle chromosomal rearrangements in children with unexplained mental retardation","volume":"354","author":"Knight","year":"1999","journal-title":"Lancet"},{"key":"10.1016\/j.ejmg.2007.11.005_bib14","doi-asserted-by":"crossref","first-page":"734","DOI":"10.1136\/jmg.39.10.734","article-title":"\u201cMolecular rulers\u201d for calibrating phenotypic effects of telomere imbalance","volume":"39","author":"Martin","year":"2002","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2007.11.005_bib15","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1136\/jmg.2005.036350","article-title":"Subtelomere FISH analysis of 11\u2008688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities","volume":"43","author":"Ravnan","year":"2006","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2007.11.005_bib16","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1038\/nature05329","article-title":"Global variation in copy number in the human genome","volume":"444","author":"Redon","year":"2006","journal-title":"Nature"},{"key":"10.1016\/j.ejmg.2007.11.005_bib17","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1007\/s004390100585","article-title":"Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes","volume":"109","author":"Riegel","year":"2001","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ejmg.2007.11.005_bib18","doi-asserted-by":"crossref","first-page":"4913","DOI":"10.1073\/pnas.89.11.4913","article-title":"The highest gene concentrations in the human genome are in telomeric bands of metaphase chromosomes","volume":"89","author":"Saccone","year":"1992","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.ejmg.2007.11.005_bib19","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1126\/science.1098918","article-title":"Large-scale copy number polymorphism in the human genome","volume":"305","author":"Sebat","year":"2004","journal-title":"Science"},{"key":"10.1016\/j.ejmg.2007.11.005_bib20","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1038\/sj.ejhg.5201720","article-title":"Novel deletion variants of 9q13\u2013q21.12 and classical euchromatic variants of 9q12\/qh involve deletion, duplication and triplication of large tracts of segmentally duplicated pericentromeric euchromatin","volume":"15","author":"Willatt","year":"2007","journal-title":"Eur. J. Hum. Genet."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S176972120700122X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S176972120700122X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:35:49Z","timestamp":1761708949000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S176972120700122X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,3]]},"references-count":20,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2008,3]]}},"alternative-id":["S176972120700122X"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2007.11.005","relation":{},"ISSN":["1769-7212"],"issn-type":[{"type":"print","value":"1769-7212"}],"subject":[],"published":{"date-parts":[[2008,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Concurrent transposition of distal 6p and 20q to the 22q telomere: A recurrent benign chromosomal variant","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2007.11.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2007 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}