{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:33:59Z","timestamp":1745469239918,"version":"3.40.4"},"reference-count":20,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cytogenet Genome Res"],"published-print":{"date-parts":[[2013]]},"abstract":"<jats:p>Microscopically visible copy number variations within the proximal short arm heterochromatin and proximal long arm of chromosome 9 have been described as euchromatic variants (EVs) and are derived from extensive segmental duplications (SDs) that map to both the proximal short and long arms of chromosome 9. Recently, 3-4 additional copies of an SD cassette were found in 2 families with duplication EVs of 9q13-q21. Here, we report a third family with a duplication EV of 9q13-q21.1 that was ascertained at prenatal diagnosis for advanced maternal age and found in the fetus and her phenotypically normal mother. Dual-colour fluorescence in situ hybridization with bacterial artificial chromosomes RP11-246P17 and RP11-211E19 was consistent with the EV chromosome having 1-2 additional copies of a similar SD cassette, except that the SD-boundary clone RP11-88I18 was not apparently included. It is important to distinguish the 9q13-q21.1 EVs from possible pathogenic imbalances of chromosome 9, especially at prenatal diagnosis, as these EVs have no established phenotypic or reproductive consequences. The nature of the G-dark bands in 9q13-q21 EVs is briefly discussed.<\/jats:p>","DOI":"10.1159\/000350870","type":"journal-article","created":{"date-parts":[[2013,5,6]],"date-time":"2013-05-06T10:12:33Z","timestamp":1367835153000},"page":"64-69","source":"Crossref","is-referenced-by-count":2,"title":["Another Family with a Euchromatic Duplication Variant of 9q13-q21.1 Derived from Segmentally Duplicated Pericentromeric Euchromatin"],"prefix":"10.1159","volume":"141","author":[{"given":"J.C.K.","family":"Barber","sequence":"first","affiliation":[]},{"given":"R.","family":"Rodrigues","sequence":"additional","affiliation":[]},{"given":"V.K.","family":"Maloney","sequence":"additional","affiliation":[]},{"given":"F.","family":"Taborda","sequence":"additional","affiliation":[]},{"given":"M. do C.","family":"Rodrigues","sequence":"additional","affiliation":[]},{"given":"M.S.","family":"Bateman","sequence":"additional","affiliation":[]}],"member":"127","published-online":{"date-parts":[[2013,5,4]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.437"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.026955"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.3109\/15513815.2011.555811"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1002\/pd.931"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1101\/gr.337602"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg113"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1038\/nbt1385"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/S1286-0115(05)83241-2"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1995.tb04075.x"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.12.014"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370135"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.085662"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.7.613"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-005-0085-x"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960906)64:4<536::AID-AJMG2>3.0.CO;2-N"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1038\/nature05329"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200889"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2164-12-243"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1159\/000184696"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201720"}],"container-title":["Cytogenetic and Genome Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/350870","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/350870","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:21:46Z","timestamp":1745432506000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000350870"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013]]},"references-count":20,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2013,7,1]]},"published-print":{"date-parts":[[2013,7,26]]}},"URL":"https:\/\/doi.org\/10.1159\/000350870","archive":["Portico"],"relation":{},"ISSN":["1424-8581","1424-859X"],"issn-type":[{"type":"print","value":"1424-8581"},{"type":"electronic","value":"1424-859X"}],"subject":[],"published":{"date-parts":[[2013]]}}}