{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T02:20:41Z","timestamp":1789352441246,"version":"build-2803163510"},"reference-count":17,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2009,5]]},"abstract":"<jats:sec>\n                  <jats:title>Background:<\/jats:title>\n                  <jats:p>Li\u2013Fraumeni syndrome greatly increases the risk of developing several types of cancer and is usually caused by <jats:italic>TP53<\/jats:italic> germline mutations. Predictive testing of at-risk family members is only offered after a complex genetic counselling process. Recently the clinical implementation of array comparative genomic hybridisation (CGH) has revolutionised the diagnosis of patients with syndromic or non-syndromic mental retardation and has evolved to a routinely performed high resolution whole genome scan.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods and results:<\/jats:title>\n                  <jats:p>When using array CGH to identify the cause for mental retardation in a 7-year-old child we found a submicroscopic de novo deletion of chromosome 17p13.1, which includes several genes likely to be causative for her phenotype, and also of <jats:italic>TP53<\/jats:italic>.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion:<\/jats:title>\n                  <jats:p>Thus, array CGH resulted in an unintended predictive diagnosis of an increased tumour susceptibility as observed in Li\u2013Fraumeni syndrome.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg.2008.064972","type":"journal-article","created":{"date-parts":[[2009,3,6]],"date-time":"2009-03-06T20:13:00Z","timestamp":1236370380000},"page":"341-344","source":"Crossref","is-referenced-by-count":33,"title":["Predictive diagnosis of the cancer prone Li\u2013Fraumeni syndrome by accident: new challenges through whole genome array testing"],"prefix":"10.1136","volume":"46","author":[{"given":"T","family":"Schwarzbraun","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A C","family":"Obenauf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Langmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"U","family":"Gruber-Sedlmayr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K","family":"Wagner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M R","family":"Speicher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P M","family":"Kroisel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2009,3,5]]},"reference":[{"key":"2025100521174679000_46.5.341.1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.68.4.820"},{"key":"2025100521174679000_46.5.341.2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.048991"},{"key":"2025100521174679000_46.5.341.3","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/S1701-2163(16)32349-0","article-title":"Clinical management recommendations for surveillance and risk-reduction strategies for hereditary breast and ovarian cancer among individuals carrying a deleterious BRCA1 or BRCA2 mutation.","volume":"29","author":"Horsman","year":"2007","journal-title":"J Obstet Gynaecol Can"},{"key":"2025100521174679000_46.5.341.4","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1754.2007.01027.x"},{"key":"2025100521174679000_46.5.341.5","doi-asserted-by":"publisher","DOI":"10.1097\/MOP.0b013e3282f4249a"},{"key":"2025100521174679000_46.5.341.6","doi-asserted-by":"publisher","DOI":"10.1159\/000094804"},{"key":"2025100521174679000_46.5.341.7","doi-asserted-by":"publisher","DOI":"10.1038\/358015a0"},{"key":"2025100521174679000_46.5.341.8","doi-asserted-by":"publisher","DOI":"10.1126\/science.8023155"},{"key":"2025100521174679000_46.5.341.9","doi-asserted-by":"publisher","DOI":"10.1002\/gepi.1370120103"},{"key":"2025100521174679000_46.5.341.10","first-page":"1364","article-title":"Rhabdomyosarcoma in children: an epidemiologic study and identification of a familial cancer syndrome.","volume":"43","author":"Li","year":"1969","journal-title":"J Nat Cancer Inst"},{"key":"2025100521174679000_46.5.341.11","first-page":"5358","article-title":"A cancer family syndrome in twenty-four kindreds.","volume":"48","author":"Li","year":"1988","journal-title":"Cancer Res"},{"key":"2025100521174679000_46.5.341.12","first-page":"1298","article-title":"Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families.","volume":"54","author":"Birch","year":"1994","journal-title":"Cancer Res"},{"key":"2025100521174679000_46.5.341.13","first-page":"101","article-title":"Germline mutations in the TP53 gene.","volume":"25","author":"Eeles","year":"1995","journal-title":"Cancer Surv"},{"key":"2025100521174679000_46.5.341.14","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.21962"},{"key":"2025100521174679000_46.5.341.15","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2003.03.189"},{"key":"2025100521174679000_46.5.341.16","doi-asserted-by":"publisher","DOI":"10.1038\/nrg1692"},{"key":"2025100521174679000_46.5.341.17","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-07-2091"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.2008.064972","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T04:17:56Z","timestamp":1759724276000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.2008.064972"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,3,5]]},"references-count":17,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2009,5,1]]},"published-print":{"date-parts":[[2009,5]]}},"alternative-id":["10.1136\/jmg.2008.064972"],"URL":"https:\/\/doi.org\/10.1136\/jmg.2008.064972","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,3,5]]}}}