{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T00:31:52Z","timestamp":1776817912102,"version":"3.51.2"},"reference-count":11,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2012,5,17]],"date-time":"2012-05-17T00:00:00Z","timestamp":1337212800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2012,5,17]],"date-time":"2012-05-17T00:00:00Z","timestamp":1337212800000},"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":[[2013]]},"abstract":"<jats:p>Neocentromeres are mitotically stable human derivative centromeres without alpha-satellite DNA which are able to provide stability to rearranged chromosome fragments that would otherwise be acentric and rapidly lost. A female fetus was found to be mosaic for a supernumerary marker chromosome: 47,XX,+mar[3]\/46,XX[36]. The marker was identified by fluorescence in situ hybridization and G-band as an inversion duplication of 13q21\u219213qter, with a neocentromere present at 13q21, in approximately 9% of colonies examined. Parental blood karyotypes were normal. QF-PCR performed on blood samples from both parents and the second amniotic fluid sample showed evidence of a second maternal allele at markers &lt;i&gt;D13S258&lt;\/i&gt; (13q21) and &lt;i&gt;D13S628&lt;\/i&gt; (13q31\u2013q32), indicating formation at maternal meiosis I\/II. This is the first reported case where the detection and origin of a low-level mosaic prenatal neo(13) were confirmed by QF-PCR.<\/jats:p>","DOI":"10.1159\/000337537","type":"journal-article","created":{"date-parts":[[2012,5,21]],"date-time":"2012-05-21T13:11:18Z","timestamp":1337605878000},"page":"75-78","source":"Crossref","is-referenced-by-count":2,"title":["Origin of a Prenatal Mosaic Supernumerary Neocentromeric Derivative Chromosome 13 Determined by QF-PCR"],"prefix":"10.1159","volume":"33","author":[{"given":"A.J.","family":"Dawson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Hryshko","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Konkin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Bal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Bernier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Tomiuk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Burnett","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Frosk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.N.","family":"Chodirker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Chun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2012,5,17]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1023%2FB%3ACHRO.0000036585.44138.4b"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.10454"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.ajhg.2007.11.009"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2Fddg282"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1159%2F000138901"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002%2Fuog.5133"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1086%2F302924"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1186%2Fgb-2006-7-10-r91"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002%2F1096-8628%2820010215%2999%3A1%3C21%3A%3AAID-AJMG1122%3E3.0.CO%3B2-X"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1002%2Fpd.559"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1002%2F%28SICI%291096-8628%2819990806%2985%3A4%3C385%3A%3AAID-AJMG15%3E3.0.CO%3B2-P"}],"container-title":["Fetal Diagnosis and Therapy"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/337537","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/337537","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T19:15:38Z","timestamp":1745435738000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000337537"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,5,17]]},"references-count":11,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2013,1,1]]},"published-print":{"date-parts":[[2013,1,15]]}},"URL":"https:\/\/doi.org\/10.1159\/000337537","archive":["Portico"],"relation":{},"ISSN":["1015-3837","1421-9964"],"issn-type":[{"value":"1015-3837","type":"print"},{"value":"1421-9964","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,5,17]]}}}