{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T23:01:34Z","timestamp":1773270094311,"version":"3.50.1"},"reference-count":27,"publisher":"BMJ","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1994,11]]},"abstract":"<jats:p>We report a female infant with congenital dislocation of the knee and dysmorphic features including a prominent forehead, midface hypoplasia, and micrognathia. Fluorescence in situ hybridisation and PCR amplification of microsatellite repeats were used to show that she had a de novo unbalanced translocation resulting in partial trisomy for 16q and partial monosomy for 15q (46,XX, -15, tder(15)t(15;16)(q26.1;q22). The consequences of partial aneuploidy of 16q are discussed.<\/jats:p>","DOI":"10.1136\/jmg.31.11.884","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"884-887","source":"Crossref","is-referenced-by-count":25,"title":["Duplication of 16q22--&gt;qter confirmed by fluorescence in situ hybridisation and molecular analysis."],"prefix":"10.1136","volume":"31","author":[{"given":"R S","family":"Houlston","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R M","family":"Renshaw","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R S","family":"James","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Ironton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I K","family":"Temple","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1994,11,1]]},"reference":[{"key":"ref_1","first-page":"49","article-title":"Chromosome anomalies associated with fetal malformations","volume-title":"Towards the prevention offetal malformation","author":"Boue, A.; Boue, J.","year":"1978","unstructured":"Boue A, Boue J. Chromosome anomalies associated with fetal malformations. In: Scrimgeour JB, ed. Towards the prevention offetal malformation. Edinburgh: Edinburgh University Press, 1978: 49-65."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1146\/annurev.ge.18.120184.000441","article-title":"Trisomy in man","volume":"18","author":"Hassold, T.J.; Jacobs, P.","year":"1984","unstructured":"Hassold TJ, Jacobs P. Trisomy in man. Annu Rev Genet 1984;18:69-97.","journal-title":"Annu Rev Genet"},{"key":"ref_3","first-page":"281","article-title":"Structural abnormalities of chromosome 18. (Two familial translocations, B\/18 and 16\/18, ascertained through unbalanced forms)","volume":"14","author":"Eriksson, B.; Fraccaro, M.; Hulten, M.; Linsten, J.; Thoren, C.; Tiepolo, L.","year":"1971","unstructured":"Eriksson B, Fraccaro M, Hulten M, Linsten J, Thoren C, Tiepolo L. Structural abnormalities of chromosome 18. 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Hum Genet 1991;87:587-91.","journal-title":"Hum Genet; monosomy 6p, presenting with the phenotype ofthe Larsen syndrome"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.31.11.884","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T18:13:35Z","timestamp":1759688015000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.31.11.884"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,11]]},"references-count":27,"journal-issue":{"issue":"11","published-online":{"date-parts":[[1994,11,1]]},"published-print":{"date-parts":[[1994,11]]}},"alternative-id":["10.1136\/jmg.31.11.884"],"URL":"https:\/\/doi.org\/10.1136\/jmg.31.11.884","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,11]]}}}