{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T06:31:07Z","timestamp":1792391467199,"version":"4.4.0"},"reference-count":0,"publisher":"Necmettin Erbakan University Press","issue":"01","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2018,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a 4-month-old male proband with a history of prominent forehead, hypertelorism, ear abnormalities, micrognathia, hypospadias, and multiple cardiac abnormalities. Initial microarray analysis detected a concurrent 7p21.3-p22.3 duplication and 13q33.2-q34 deletion indicating an unbalanced rearrangement. However, subsequent conventional cytogenetic studies only revealed what appeared to be a balanced t(12;20)(q24.33;p12.2). Fluorescence in situ hybridization (FISH) using chromosome-specific subtelomere probes confirmed the presence of an unbalanced der(13)t(7;13)(p21.3;q33.2) and balanced t(12;20)(q24.33;p12.2), both of maternal origin. In addition to our unique clinical findings, this case highlights the benefits and limitations of both conventional cytogenetic studies and microarray analysis and how FISH complements each methodology.<\/jats:p>","DOI":"10.1055\/s-0037-1605592","type":"journal-article","created":{"date-parts":[[2017,8,14]],"date-time":"2017-08-14T18:41:03Z","timestamp":1502736063000},"page":"035-039","source":"Crossref","is-referenced-by-count":4,"title":["Inheritance of a Balanced t(12;20)(q24.33;p12.2) and Unbalanced der(13)t(7;13)(p21.3;q33.2) from a Maternally Derived Double Balanced Translocation Carrier"],"prefix":"10.53391","volume":"07","author":[{"given":"Gabrielle","family":"Geddes","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Section of Genetics, Medical College of Wisconsin, Milwaukee, Wisconsin, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donald","family":"Basel","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Section of Genetics, Medical College of Wisconsin, Milwaukee, Wisconsin, United States"},{"name":"Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, Wisconsin, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dana","family":"Schippman","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Section of Genetics, Medical College of Wisconsin, Milwaukee, Wisconsin, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr.","given":"John","family":"Grignon","sequence":"first","affiliation":[{"name":"Wisconsin Diagnostic Laboratories, Milwaukee, Wisconsin, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"vanTuinen","sequence":"first","affiliation":[{"name":"Department of Pathology, Medical College of Wisconsin, Milwaukee, Wisconsin, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike","family":"Kappes","sequence":"first","affiliation":[{"name":"Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, Wisconsin, United States"},{"name":"The Advanced Genomics Laboratory at Children's Research Institute, Medical College of Wisconsin, Milwaukee, Wisconsin, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jess","family":"Peterson","sequence":"additional","affiliation":[{"name":"Department of Pathology, Medical College of Wisconsin, Milwaukee, Wisconsin, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"31409","published-online":{"date-parts":[[2017,8,14]]},"container-title":["Journal of Pediatric Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0037-1605592.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T19:45:31Z","timestamp":1758138331000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0037-1605592"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8,14]]},"references-count":0,"journal-issue":{"issue":"01","published-online":{"date-parts":[[2018,2,12]]},"published-print":{"date-parts":[[2018,3]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0037-1605592","relation":{},"ISSN":["2146-4596","2146-460X"],"issn-type":[{"value":"2146-4596","type":"print"},{"value":"2146-460X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,8,14]]}}}