{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T22:48:12Z","timestamp":1777762092660,"version":"3.51.4"},"reference-count":0,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2008,4,30]],"date-time":"2008-04-30T00:00:00Z","timestamp":1209513600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2008,4,30]],"date-time":"2008-04-30T00:00:00Z","timestamp":1209513600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cytogenetics"],"abstract":"<jats:p>Double monosomy mosaicism was observed in a three-year-old girl who had mental and physical retardation. Routine blood-lymphocyte and bone-marrow chromosome studies showed an apparent 45, X pattern, which was confirmed by autoradiographic studies with tritiated thymidine. Routine and fluorescent chromosome analyses from bilateral skin biopsies revealed a 45,XX,21\u2013 karyotype, which was consistent with the positive sex-chromatin pattern in these fibroblasts as well as in the buccal smear and hair-root-sheath cells. Although her clinical features bore some resemblance to patients with Turner\u2019s syndrome and to patients with G monosomy, our patient did not closely fit either of these syndromes.<\/jats:p>","DOI":"10.1159\/000130161","type":"journal-article","created":{"date-parts":[[2008,4,30]],"date-time":"2008-04-30T05:35:09Z","timestamp":1209533709000},"page":"404-412","source":"Crossref","is-referenced-by-count":4,"title":["Double monosomy mosaicism (45,X\/45,XX,21\u2013) in a retarded child with multiple congenital malformations"],"prefix":"10.1159","author":[{"given":"Felice M.","family":"Weber","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.S.","family":"Sparkes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helga","family":"Muller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2008,4,30]]},"container-title":["Cytogenetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/130161","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000130161","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T14:25:26Z","timestamp":1777472726000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000130161"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,4,30]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1159\/000130161","archive":["Portico"],"relation":{},"ISSN":["0011-4537"],"issn-type":[{"value":"0011-4537","type":"print"}],"subject":[],"published":{"date-parts":[[2008,4,30]]}}}