{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T23:02:15Z","timestamp":1777762935186,"version":"3.51.4"},"reference-count":0,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2008,5,2]],"date-time":"2008-05-02T00:00:00Z","timestamp":1209686400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2008,5,2]],"date-time":"2008-05-02T00:00:00Z","timestamp":1209686400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cytogenet Cell Genet"],"abstract":"<jats:p>Two families were ascertained through a proband with Down syndrome and a structural rearrangement involving two chromosomes 21. It is suggested that in one patient the chromosome is an isochromosome formed by misdivision of the centromere of a maternal telocentric chromosome 21 and that in the other a Robertsonian translocation involving chromosome 21 was inherited from the mother, who is a 46, XX\/46, XX,\u201321,+t(21q21q) mosaic. The origin of the mosaicism is discussed and considered to be likely to be the result of breakage and reunion at the chromatid, rather than the chromosome, level.<\/jats:p>","DOI":"10.1159\/000130850","type":"journal-article","created":{"date-parts":[[2008,5,6]],"date-time":"2008-05-06T10:30:07Z","timestamp":1210069807000},"page":"185-193","source":"Crossref","is-referenced-by-count":10,"title":["Structural chromosome abnormalities in Down syndrome: a study of two families"],"prefix":"10.1159","author":[{"given":"P.A.","family":"Jacobs","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Mayer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Rudak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2008,5,2]]},"container-title":["Cytogenetics and Cell Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/130850","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000130850","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T14:37:57Z","timestamp":1777473477000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000130850"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,5,2]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1159\/000130850","archive":["Portico"],"relation":{},"ISSN":["0301-0171","1421-9816"],"issn-type":[{"value":"0301-0171","type":"print"},{"value":"1421-9816","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,5,2]]}}}