{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T09:25:14Z","timestamp":1775294714499,"version":"3.50.1"},"reference-count":0,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1976,12]]},"abstract":"<jats:p>A severely mentally subnormal child with many physical stigmata was shown to have the karyotype 46,XY,-2,+der(2),t(2;10)(q31;q24)pat. Full evaluation of this patient's karyotype depended on the family studies. It was shown that a balanced translocation t(2,10) was present in 4 normal males in 3 generations.<\/jats:p>","DOI":"10.1136\/jmg.13.6.507","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"507-510","source":"Crossref","is-referenced-by-count":23,"title":["Severe mental retardation in a boy with partial trisomy 10q and partial monosomy 2q."],"prefix":"10.1136","volume":"13","author":[{"given":"J A","family":"Sills","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K E","family":"Buckton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J A","family":"Raeburn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1976,12,1]]},"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.13.6.507","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T17:11:30Z","timestamp":1760721090000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.13.6.507"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1976,12]]},"references-count":0,"journal-issue":{"issue":"6","published-online":{"date-parts":[[1976,12,1]]},"published-print":{"date-parts":[[1976,12]]}},"alternative-id":["10.1136\/jmg.13.6.507"],"URL":"https:\/\/doi.org\/10.1136\/jmg.13.6.507","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1976,12]]}}}