{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,24]],"date-time":"2026-01-24T23:53:21Z","timestamp":1769298801824,"version":"3.49.0"},"reference-count":19,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1983,4]]},"abstract":"<jats:p>A newborn child with an unusual facial appearance and multiple abnormalities was found to be trisomic for a large part of 12q as a result of adjacent 1 segregation of a familial translocation, t(9;12) (p24;q21.2). A combination of cytogenetic analysis, clinical features, and enzyme marker studies allows an accurate assessment of the breakpoints. Although trisomic for a considerably larger area of 12q than other reported cases, there are many similar features suggesting that trisomy 12q is a clinically recognisable syndrome. The frequency and mode of segregation of 12q translocations and their implications for genetic counselling are discussed.<\/jats:p>","DOI":"10.1136\/jmg.20.2.86","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"86-89","source":"Crossref","is-referenced-by-count":27,"title":["Partial trisomy 12q: a clinically recognisable syndrome. Genetic risks associated with translocations of chromosome 12q."],"prefix":"10.1136","volume":"20","author":[{"given":"N R","family":"Pratt","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D T","family":"Bulugahapitiya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1983,4,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1159\/000131354","article-title":"Confirmation of the assignment of the gene for galactose-1-phosphate uridyltransferase (E. C.2.7.7.12) to human chromosome 9","volume":"24","author":"Benn, P.A.; D'Acona, G.G.; Croce, C.M.; Shows, T.B.; Hellman, W.J.","year":"1979","unstructured":"Benn PA, D'Acona GG, Croce CM, Shows TB, Hellman WJ. Confirmation of the assignment of the gene for galactose-1-phosphate uridyltransferase (E.C.2.7.7.12) to human chromosome 9. 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