{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T20:48:48Z","timestamp":1760906928823,"version":"3.40.4"},"reference-count":12,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2007,1,1]],"date-time":"2007-01-01T00:00:00Z","timestamp":1167609600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2007,1,1]],"date-time":"2007-01-01T00:00:00Z","timestamp":1167609600000},"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":[[2007]]},"abstract":"<i>Objective:<\/i> We describe the analysis of an apparently balanced inherited reciprocal translocation in a fetus presenting with multiple congenital abnormalities, characterize the structural chromosome rearrangement, and report an unexpected additional imbalance to the inherited rearrangement. <i>Methods:<\/i> DNA microarray was used to screen for genomic imbalance in subtelomeric and interstitial critical regions. High-resolution comparative genomic hybridization was used to screen for genomic imbalance at a genome-wide level. Fluorescence in situ hybridization using whole-chromosome painting and specific probes was used to characterize the inherited translocation, and the size of the de novoadditional deletion. <i>Results:<\/i> An unexpected additional deletion was found in 7qter on derivative 10 of the inherited maternal reciprocal translocation t(7;10)(q11.23; p14). <i>Conclusions:<\/i> We show the usefulness of genome-wide and specific molecular cytogenetic techniques to explore apparently balanced rearrangements.<\/jats:p>","DOI":"10.1159\/000100797","type":"journal-article","created":{"date-parts":[[2007,3,16]],"date-time":"2007-03-16T12:39:39Z","timestamp":1174048779000},"page":"306-312","source":"Crossref","is-referenced-by-count":2,"title":["De novo Subtelomeric Deletion Additional to an Inherited Apparently Balanced Reciprocal Translocation"],"prefix":"10.1159","volume":"22","author":[{"given":"A.","family":"Delahaye","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Pipiras","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Kanafani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Touboul","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Vergnaud","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Encha-Razavi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Sinico","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Benkhalifa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Kasakyan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Serero","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.P.","family":"Wolf","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"G\u00e9rard-Blanluet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Benzacken","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2007,3,15]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.29.2.103"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.2004.024141"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1097%2F01.GIM.0000117850.04443.C9"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1126%2Fscience.1359641"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002%2F%28SICI%291097-0320%2819970601%2928%3A2%3C130%3A%3AAID-CYTO5%3E3.0.CO%3B2-J"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1399-0004.1977.tb00932.x"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002%2Fpd.602"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.34.11.899"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.1320350229"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016%2F0168-9525%2896%2981383-7"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1159%2F000134184"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1086%2F497705"}],"container-title":["Fetal Diagnosis and Therapy"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/100797","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/100797","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T02:54:38Z","timestamp":1745463278000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000100797"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007]]},"references-count":12,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2007,6,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000100797","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.5104576","asserted-by":"subject"}]},"ISSN":["1015-3837","1421-9964"],"issn-type":[{"type":"print","value":"1015-3837"},{"type":"electronic","value":"1421-9964"}],"subject":[],"published":{"date-parts":[[2007]]}}}