{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T22:40:09Z","timestamp":1773268809499,"version":"3.50.1"},"reference-count":13,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,5,16]],"date-time":"2005-05-16T00:00:00Z","timestamp":1116201600000},"content-version":"vor","delay-in-days":3577,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1995,7,31]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a 22\u2010year\u2010old woman and her 21\u2010year\u2010old brother with mild mental retardation, long face, prominent forehead, retrognathia, and (relative) macrocephaly. At birth they were small for date, their length is now below the 10th centile. Chromosome analysis demonstrated a nearly pure trisomy 1q42\u2192qter in both patients due to unbalanced segregation of a paternal reciprocal balanced translocation 46,XY,t(1;15) (q42;p11). This is the second report of a nearly pure trisomy 1q42\u2192qter.<\/jats:p><jats:p>When comparing the manifestations of our patients with those of other reported cases we conclude that the most characteristic clinical manifestations of this syndrome are macrocephaly, prominent forehead, micro\/retrognathia, large fontanelle, intrauterine growth retardation, postnatal growth retardation, and mental retardation. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320580116","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:04:23Z","timestamp":1118513063000},"page":"83-86","source":"Crossref","is-referenced-by-count":19,"title":["Trisomy 1q42\u2192qter in a sister and brother: Further delineation of the \u201ctrisomy 1q42\u2192qter Syndrome\u201d"],"prefix":"10.1002","volume":"58","author":[{"given":"Corien C.","family":"Verschuuren\u2010Bemelmans","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beike","family":"Leegte","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thea M. J.","family":"Hodenius","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan M.","family":"Cobben","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,5,16]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1988.tb02869.x"},{"key":"e_1_2_1_3_1","first-page":"223","article-title":"Studio clinico e citogentico di un caso di trisomia 1q per traslocazione familiare t(1;5)(q42;p15.3)","volume":"71","author":"Duillo MT","year":"1979","journal-title":"Pathologica"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320390305"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470805"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1989.tb03371.x"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1980.tb02297.x"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320040105"},{"key":"e_1_2_1_9_1","first-page":"2251","article-title":"Trisomy for distal segments of the long arm of chromosome 1","volume":"25","author":"Lurie IW","year":"1989","journal-title":"Genetika"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320180116"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00209018"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320360203"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320330430"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00295461"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320580116","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320580116","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T01:47:10Z","timestamp":1698284830000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320580116"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,7,31]]},"references-count":13,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1995,7,31]]}},"alternative-id":["10.1002\/ajmg.1320580116"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320580116","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,7,31]]}}}