{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T19:03:43Z","timestamp":1790795023959,"version":"4.1.0"},"reference-count":9,"publisher":"S. Karger AG","issue":"1-4","license":[{"start":{"date-parts":[[2000,1,1]],"date-time":"2000-01-01T00:00:00Z","timestamp":946684800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2000,1,1]],"date-time":"2000-01-01T00:00:00Z","timestamp":946684800000},"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":[[2000]]},"abstract":"<jats:p>Neocentromeres are fully functional centromeres found on rearranged or marker chromosomes that have separated from endogenous centromeres. Neocentromeres often result in partial tri- or tetrasomy because their formation confers mitotic stability to acentric chromosome fragments that would normally be lost. We describe the prenatal identification and characterization of a de novo supernumerary marker chromosome (SMC) containing a neocentromere in a 20-wk fetus by the combined use of comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH). GTG-banding of fetal metaphases revealed a 47,XY,+mar karyotype in 100% of cultured amniocytes; parental karyotypes were both normal. Although sequential tricolor FISH using chromosome-specific painting probes identified a chromosome 10 origin of the marker, a complete panel of chromosome-specific centromeric satellite DNA probes failed to hybridize to any portion of the marker. The presence of a neocentromere on the marker chromosome was confirmed by the absence of hybridization of an all-human-centromere alpha-satellite DNA probe, which hybridizes to all normal centromeres, and the presence of centromere protein (CENP)-C, which is associated specifically with active kinetochores. Based on CGH analysis and FISH with a chromosome 10p subtelomeric probe, the marker was found to be an inversion duplication of the distal portion of chromosome 10p. Thus, the proband\u2019s karyotype was 47,XY,+inv dup(10)(pter\u2192p14\u223c15::p14\u223c15\u2192neo\u2192pter), which is the first report of partial tetrasomy 10p resulting from an analphoid marker chromosome with a neocentromere. This study illustrates the use of several molecular strategies in distinguishing centric alphoid markers from neocentric analphoid markers.\u00a0\u00a0\u00a0<\/jats:p>","DOI":"10.1159\/000056839","type":"journal-article","created":{"date-parts":[[2003,4,15]],"date-time":"2003-04-15T19:06:15Z","timestamp":1050433575000},"page":"165-170","source":"Crossref","is-referenced-by-count":24,"title":["Prenatal molecular cytogenetic diagnosis of partial tetrasomy 10p due to neocentromere formation in an inversion duplication analphoid marker chromosome"],"prefix":"10.1159","volume":"91","author":[{"given":"B.","family":"Levy","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.R.","family":"Papenhausen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.H.","family":"Tepperberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.M.","family":"Dunn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Fallet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.S.","family":"Magid","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.B.","family":"Kardon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Hirschhorn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.E.","family":"Warburton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2001,1,30]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000313)91:2<116::AID-AJMG7>3.3.CO;2-H"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1101\/gr.10.6.832"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.1998.5440412.x"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.1999.550512.x"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961028)65:3<197::AID-AJMG5>3.0.CO;2-N"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980203)75:4<367::AID-AJMG5>3.3.CO;2-O"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1126\/science.274.5287.494"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038\/ng0496-368"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1086\/302924"}],"container-title":["Cytogenetic and Genome Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/56839","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/56839","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:52:12Z","timestamp":1745470332000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000056839"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000]]},"references-count":9,"journal-issue":{"issue":"1-4","published-online":{"date-parts":[[2000,7,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000056839","archive":["Portico"],"relation":{},"ISSN":["1424-8581","1424-859X"],"issn-type":[{"value":"1424-8581","type":"print"},{"value":"1424-859X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2000]]}}}