{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T17:32:30Z","timestamp":1791048750171,"version":"4.1.0"},"reference-count":22,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2009,6,16]],"date-time":"2009-06-16T00:00:00Z","timestamp":1245110400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2009,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The advent of oligonucleotide array comparative genomic hybridization (aCGH) has revolutionized diagnosis of chromosome abnormalities in the genetics clinic. This new technology also has valuable potential as a research tool to investigate larger genomic rearrangements that are typically diagnosed via routine karyotype. aCGH was used as a tool for the high\u2010resolution analysis of chromosome content in individuals with known deletions of chromosome 18. The aim of this study was to clarify the precise location of the breakpoints as well as to determine the presence of occult translocations creating additional deletions and duplications. One hundred eighty\u2010nine DNA samples from individuals with 18q deletions were analyzed. No breakpoint clusters were identified, as no more than two individuals had breakpoints within 2\u2009kb of each other. Only two regions of 18q were never found to be haploid, suggesting the existence of haplolethal genes in those regions. Of the individuals with only a chromosome 18 abnormality, 17% (n\u2009=\u200929) had interstitial deletions. Six percent (n\u2009=\u200911) had a region of duplication immediately proximal to the deletion. Eight percent (n\u2009=\u200915) had more complex rearrangements with captured (non\u201018q) telomeres thus creating a trisomic region. The 15 captured telomeres originated from a limited number of other telomeres (4q, 10q, 17p, 18p, 20q, and Xq). These data were converted into a format for ease of viewing and analysis by creating custom tracks for the UCSC Genome Browser. Taken together, these findings confirm a higher level of variability and genomic complexity surrounding deletions of 18q than has previously been appreciated. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32900","type":"journal-article","created":{"date-parts":[[2009,6,16]],"date-time":"2009-06-16T22:37:49Z","timestamp":1245191869000},"page":"1431-1437","source":"Crossref","is-referenced-by-count":46,"title":["High resolution genomic analysis of 18q\u2212 using oligo\u2010microarray comparative genomic hybridization (aCGH)"],"prefix":"10.1002","volume":"149A","author":[{"given":"Patricia L.","family":"Heard","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erika M.","family":"Carter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"AnaLisa C.","family":"Crandall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Courtney","family":"Sebold","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel E.","family":"Hale","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jannine D.","family":"Cody","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,6,16]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg231"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/301854"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.25.9.3535-3542.2005"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970331)69:3<280::AID-AJMG12>3.0.CO;2-N"},{"key":"e_1_2_6_6_1","first-page":"74","article-title":"The 18p\u2212, 18q\u2212 and 18r syndromes","volume":"5","author":"de Grouchy J","year":"1969","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_6_7_1","first-page":"579","article-title":"Deletion partielle des bras longs du chromosome 18","volume":"12","author":"de Grouchy J","year":"1964","journal-title":"Pathol Biol"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31850"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30154"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30090"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31817e2bde"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32557"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1416"},{"key":"e_1_2_6_14_1","first-page":"1721","article-title":"Etude des chromosomes somatiques de neuf enfants mongoliens","volume":"248","author":"Lejeune J","year":"1959","journal-title":"CR Acad Sci"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.176.11.6777"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.052910"},{"key":"e_1_2_6_17_1","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1016\/j.ejmg.2008.10.002","article-title":"Twelve new patients with 13q deletion syndrome: Genotype\u2010phenotype analyses in progress","volume":"52","author":"Qu\u00e9lin C","year":"2008","journal-title":"Eur J Med Genet"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200201000-00003"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.057315"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00295518"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32310"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1086\/510560"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1086\/427762"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.32900","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32900","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T19:45:20Z","timestamp":1697053520000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32900"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,6,16]]},"references-count":22,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2009,7]]}},"alternative-id":["10.1002\/ajmg.a.32900"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32900","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,6,16]]}}}