{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,10]],"date-time":"2025-11-10T20:48:44Z","timestamp":1762807724485},"reference-count":17,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4724,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1992,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on 2 patients with <jats:italic>de novo<\/jats:italic> terminal deletion of 6q. The first was a 4\u2010month\u2010old boy whose karyotype was 46, XY, del(6)(q24.3); the second a 2\u2010year\u2010old girl whose karyotype was 46, XX, del(6)(q25.3). The main anomalies in both patients included mental retardation, minor craniofacial and cerebral anomalies, and cardiac defects. The characteristic manifestations were imperforate anus in the first patient, and retinitis proliferans and a triatrial heart in the other. Comparison of clinical findings of our 2 patients with those of 18 previously reported patients with similar phenotypes suggests that terminal deletion of the 6q23 or 6q25 band is critical in producing the main anomalies of del(6q) syndrome. \u00a9 1992 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320430419","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T04:43:49Z","timestamp":1118551429000},"page":"747-750","source":"Crossref","is-referenced-by-count":30,"title":["Two patients with chromosome 6q terminal deletions with breakpoints at q24.3 and q25.3"],"prefix":"10.1002","volume":"43","author":[{"given":"Jianguo","family":"Meng","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroko","family":"Fujita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noboru","family":"Nagahara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akira","family":"Kashiwai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasushi","family":"Yoshioka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masahisa","family":"Funato","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1978.tb04129.x"},{"key":"e_1_2_1_3_1","first-page":"82","article-title":"Interstitial deletion of the long arm of chromosome 6","volume":"32","author":"Chery M","year":"1989","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1017\/S000156600000951X"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320240122"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320050110"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1159\/000130780"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320340306"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1159\/000152874"},{"key":"e_1_2_1_10_1","first-page":"223","article-title":"Chromosome 6q\u2010 and associated malformations","volume":"21","author":"Liberfarb RM","year":"1978","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350115"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00290596"},{"key":"e_1_2_1_13_1","first-page":"139","article-title":"Long arm deletion of chromosome No. 6 in a mentally retarded boy with multiple physical malformations","volume":"19","author":"Milo\u0161evi\u010d J","year":"1975","journal-title":"J Ment Defic Res"},{"key":"e_1_2_1_14_1","first-page":"56","article-title":"Distal monosomy of the long arm of chromosome 6 (6q25\u20106qter) inherited by maternal translocation t(6q;17q)","volume":"33","author":"Oliveira\u2010Duarte M\u2010H","year":"1990","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_15_1","first-page":"42","article-title":"De novo del(6)(q25) associated with macular degeneration","volume":"29","author":"Rivas F","year":"1986","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320117"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290410"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816818609004134"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320430419","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320430419","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,28]],"date-time":"2023-09-28T00:12:58Z","timestamp":1695859978000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320430419"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,7]]},"references-count":17,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1992,7]]}},"alternative-id":["10.1002\/ajmg.1320430419"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320430419","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,7]]}}}