{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,21]],"date-time":"2026-03-21T08:52:01Z","timestamp":1774083121266,"version":"3.50.1"},"reference-count":14,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1974,6]]},"abstract":"<jats:p>The karyotype of a child with severe mental retardation, microcephaly, minor facial anomalies, and urinary tract outflow obstruction was found to be 46,XY,13q+mat. Trypsin-Giemsa banding studies showed an inherited translocation, t(4q\u2212;13q+), in several asymptomatic members of the family including the propositus' mother. This indicates that the propositus had partial trisomy for the distal one-third of the long arm of chromosome 4. Review of the literature suggests that urinary tract and genital anomalies may be a consistent feature of this partial trisomy.<\/jats:p>","DOI":"10.1136\/jmg.11.2.201","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"201-205","source":"Crossref","is-referenced-by-count":18,"title":["Translocation, t(4q\u2212;13q+), in three generations resulting in partial trisomy of the long arm of chromosome 4 in the fourth generation"],"prefix":"10.1136","volume":"11","author":[{"given":"Helmut G.","family":"Schrott","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sumiko","family":"Sakaguchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Uta","family":"Francke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luigi","family":"Luzzatti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philip J.","family":"Fialkow","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1974,6,1]]},"reference":[{"key":"ref_1","first-page":"215","article-title":"Identification of human chromosomes by DNA-binding fluorescent agents","volume":"30","author":"Caspersson, T.; Zech, L.; Johansson, C.; Modest, E.J.","year":"1970","unstructured":"Caspersson, T., Zech, L., Johansson, C., and Modest, E. 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