{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:36:54Z","timestamp":1745469414141,"version":"3.40.4"},"reference-count":10,"publisher":"S. Karger AG","issue":"1-2","license":[{"start":{"date-parts":[[2010,7,20]],"date-time":"2010-07-20T00:00:00Z","timestamp":1279584000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2010,7,20]],"date-time":"2010-07-20T00:00:00Z","timestamp":1279584000000},"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":[[2011]]},"abstract":"<jats:p>Unbalanced chromosomal abnormalities (UBCA) are reported for &gt;50 euchromatic regions of almost all human autosomes. UBCA are comprised of a few megabases of DNA, and carriers are in many cases clinically healthy. Here we report on a partial trisomy of chromosome 4 of the centromere-near region of the short arm of chromosome 4 present as a small supernumerary marker chromosome (sSMC). The sSMC was present in &gt;70% of amnion cells and in 60% of placenta. Further delineation of the size of the duplicated region was done by molecular cytogenetics and array comparative genomic hybridization. Even though the sSMC lead to a partial trisomy of \u223c9 megabase pairs, a healthy child was born, developing normally at 1 year of age. No comparable cases are available in the literature. Thus, we discuss here the possibility of having found a yet unrecognized chromosomal region subject to UBCA.<\/jats:p>","DOI":"10.1159\/000316393","type":"journal-article","created":{"date-parts":[[2010,11,3]],"date-time":"2010-11-03T07:57:08Z","timestamp":1288771028000},"page":"121-123","source":"Crossref","is-referenced-by-count":3,"title":["Is There a Yet Unreported Unbalanced Chromosomal Abnormality without Phenotypic Consequences in Proximal 4p?"],"prefix":"10.1159","volume":"132","author":[{"given":"T.","family":"Liehr","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Bartels","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Zoll","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Ewers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Mrasek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Kosyakova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Merkas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.B.","family":"Hamid","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"von Eggeling","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Posorski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Weise","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2010,7,20]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.2004.026955"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002%2Fpd.1776"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038%2Fng1416"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F8.2.205"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.b.30663"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1369%2Fjhc.2009.954370"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1159%2F000200094"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038%2Fng0496-368"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1007%2Fs00439-003-1016-3"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1369%2Fjhc.2008.950550"}],"container-title":["Cytogenetic and Genome Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/316393","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/316393","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T19:17:19Z","timestamp":1745435839000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000316393"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,7,20]]},"references-count":10,"journal-issue":{"issue":"1-2","published-online":{"date-parts":[[2010,11,1]]},"published-print":{"date-parts":[[2010,11,3]]}},"URL":"https:\/\/doi.org\/10.1159\/000316393","archive":["Portico"],"relation":{},"ISSN":["1424-8581","1424-859X"],"issn-type":[{"type":"print","value":"1424-8581"},{"type":"electronic","value":"1424-859X"}],"subject":[],"published":{"date-parts":[[2010,7,20]]}}}