{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,29]],"date-time":"2026-03-29T11:38:03Z","timestamp":1774784283261,"version":"3.50.1"},"reference-count":1,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2002,1,1]],"date-time":"2002-01-01T00:00:00Z","timestamp":1009843200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2002,1,1]],"date-time":"2002-01-01T00:00:00Z","timestamp":1009843200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Fetal Diagn Ther"],"published-print":{"date-parts":[[2002]]},"abstract":"<jats:p>&lt;i&gt;Objectives:&lt;\/i&gt; In a case with severe sonographic abnormalities followed by missed abortion in week 14 + 5 days, cytogenetic analysis was performed on placental tissue. A mosaic karyotype 47,XY,+13,add(1)(q44)[3]\/47,XY, +13[9]\/46,XY[36] was detected. The purpose of the present study was to characterize the additional material on chromosome 1q. &lt;i&gt;Methods:&lt;\/i&gt; According to GTG banding, the additional material on chromosome 1 was most probably chromosome 1 material. Thus, multicolor banding analysis using a chromosome 1 specific probe set was done to precisely describe the rearranged chromosome 1. &lt;i&gt;Results:&lt;\/i&gt; Molecular cytogenetic approaches revealed that the derivative chromosome 1 was der(1)(1p36.3\u21921q44::1q12\u21921q44). &lt;i&gt;Conclusions:&lt;\/i&gt; This is the first description of a case with a trisomy 13 plus a partial trisomy 1q presenting with clinical signs of both aberrations. Moreover, the multicolor banding technique is suited to resolve complex karyotypes in the prenatal diagnosis, i.e., chromosome preparations of fibroblasts.<\/jats:p>","DOI":"10.1159\/000048025","type":"journal-article","created":{"date-parts":[[2003,4,15]],"date-time":"2003-04-15T13:07:10Z","timestamp":1050412030000},"page":"133-136","source":"Crossref","is-referenced-by-count":4,"title":["First Case of Trisomy 13 plus Mosaic Trisomy 1q"],"prefix":"10.1159","volume":"17","author":[{"given":"Thomas","family":"Liehr","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthias","family":"Schmidt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heike","family":"Starke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monika","family":"Ziegler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriele","family":"Kittner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anita","family":"Heller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nikolai","family":"Rubtsov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vladimir","family":"Trifonov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Uwe","family":"Claussen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2002,4,12]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1159\/000015245"}],"container-title":["Fetal Diagnosis and Therapy"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/48025","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/48025","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T03:59:18Z","timestamp":1745467158000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000048025"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002]]},"references-count":1,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2002,6,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000048025","archive":["Portico"],"relation":{},"ISSN":["1015-3837","1421-9964"],"issn-type":[{"value":"1015-3837","type":"print"},{"value":"1421-9964","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002]]}}}