{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T00:16:14Z","timestamp":1760832974047,"version":"build-2065373602"},"reference-count":9,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1981,2]]},"abstract":"<jats:p>A mother with a translocation rcp (1;3) (q32;p25) gave birth to a son with duplication of 1q32 leads to qter and deletion of 3p25 leads to pter. At 17 1\/2 years of age, the proband was severely mentally retarded and presented a pattern of multiple minor dysmorphic stigmata and anomalies, including hypertrichosis, synophrys, ocular hypertelorism, ptosis, convergent squint, cleft uvula nad narrow palate, poorly modelled auricles, funnel chest, kyphoscoliosis, umbilical and inguinal hernias, and cubitus valgus. He had normal stature and did not have any apparent malformations.<\/jats:p>","DOI":"10.1136\/jmg.18.1.64","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"64-68","source":"Crossref","is-referenced-by-count":20,"title":["Duplication-deletion with partial trisomy lq and partial monosomy 3p resulting from a maternal reciprocal translocation rcp (1;3) (q32;p25)."],"prefix":"10.1136","volume":"18","author":[{"given":"A","family":"Schinzel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1981,2,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1001\/archpedi.1978.02120260045012","article-title":"A patient with a partial deletion of the short arm of chromosome 3","volume":"132","author":"Verjaal, M.; de Nef, J.","year":"1978","unstructured":"Verjaal M, de Nef J. 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Partial trisomy of the long arm of human chromosome 1 as demonstrated by in situ hybridization with 5S ribosomal RNA. Hum Genet 1977; 36:25-33.","journal-title":"Hum Genet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1111\/j.1399-0004.1979.tb00839.x","article-title":"Partial trisomy Iq due to tandem translocation","volume":"15","author":"Flatz, S.; Fonatsch, C.","year":"1979","unstructured":"Flatz S, Fonatsch C. Partial trisomy Iq due to tandem translocation. Clin Genet 1979;15:541-2.","journal-title":"Clin Genet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1007\/BF00390442","article-title":"'De novo' trisomy lq32-> lqter and monosomy 3p25_3pter","volume":"36","author":"Yunis, E.; Egel, H.; Zuniga, R.; Ramirez, E.; Torres de Caballero, O.M.; Leibovici, M.","year":"1977","unstructured":"Yunis E, Egel H, Zuniga R, Ramirez E, Torres de Caballero OM, Leibovici M. 'De novo' trisomy lq32-> lqter and monosomy 3p25_3pter. 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