{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:11:46Z","timestamp":1792167106339,"version":"4.4.0"},"reference-count":13,"publisher":"BMJ","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1993,11]]},"abstract":"<jats:p>A 6 month old patient is reported with a ring chromosome 18 confirmed by cytogenetic studies and in situ hybridisation. Her clinical features were similar to previous cases of ring chromosome 18 syndrome. The ring chromosome was inherited from the phenotypically and mentally normal mother with a mos 46,XX\/47,XX, + r(18) karyotype.<\/jats:p>","DOI":"10.1136\/jmg.30.11.964","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"964-965","source":"Crossref","is-referenced-by-count":21,"title":["Transmission of a ring chromosome 18 from a mother with 46,XX\/47,XX, + r(18) mosaicism to her daughter, resulting in a 46,XX,r(18) karyotype."],"prefix":"10.1136","volume":"30","author":[{"given":"J","family":"Jenderny","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Caliebe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Beyer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W","family":"Grote","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1993,11,1]]},"reference":[{"key":"ref_1","first-page":"616","article-title":"Catalogue of unbalanced chromosome aberrations in man","author":"Schinzel, A.","year":"1983","unstructured":"Schinzel A. 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J Genet Hum 1986;34:313-20.","journal-title":"J Genet Hum"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1002\/ajmg.1320240121","article-title":"Ring chromosome 18 in a mother and son","volume":"24","author":"MA.f, Donlan; CR, Donlan","year":"1986","unstructured":"Donlan MA.f, Donlan CR. Ring chromosome 18 in a mother and son. Am J Med Genet 1986;24:171-4.","journal-title":"Am J Med Genet"},{"key":"ref_5","first-page":"49","article-title":"Ring chromosome 18 in mother and daughter","volume":"14","author":"Christensen, K.R.; Friederich, U.; Jacobsen, P.; Jensen, K.; Nielsen, J.; Tsuboi, T.","year":"1970","unstructured":"Christensen KR, Friederich U, Jacobsen P, Jensen K, Nielsen J, Tsuboi T. Ring chromosome 18 in mother and daughter. 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