{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,7]],"date-time":"2026-02-07T02:10:03Z","timestamp":1770430203080,"version":"3.49.0"},"reference-count":14,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":5194,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1991,3,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a 2.5\u2010month\u2010old boy with hypertelorism, hypertrichosis, anteverted nostrils, malformed ears, thin lips, downturned corners of the mouth, micrognathia, short neck, cryptorchidism, and bilateral simian creases without limb anomalies. Cytogenetic studies showed a duplication 3q \u2192 qter 46,XY,der(6),t(3;6)(q21;p25)pat. The absence of limb anomalies is noteworthy; all 12 previously reported patients with the same duplication had limb anomalies. The uniqueness of this report provokes speculations regarding limb morphogenesis in embryos with chromosome anomalies. The concepts of chronogenetics, heterochrony, and developmental field defects appear relevant to yet another set of patients with chromosome anomalies.<\/jats:p>","DOI":"10.1002\/ajmg.1320380403","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:16:27Z","timestamp":1118546187000},"page":"518-522","source":"Crossref","is-referenced-by-count":4,"title":["Duplication 3q(q21 \u2192 qter) without limb anomalies"],"prefix":"10.1002","volume":"38","author":[{"given":"Suzan R.","family":"Ismail","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Boris G.","family":"Kousseff","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samia M.","family":"Kotb","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Soha F.","family":"Kholeif","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320070315"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.13.6.525"},{"issue":"4","key":"e_1_2_1_4_1","first-page":"A95","article-title":"Dup 3q21 \u2192 q29 in a male due to a de novo duplication inversion","volume":"37","author":"Gustashaw K","year":"1985","journal-title":"Am J Med Genet"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.54.2.135"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00272194"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291914"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1990.tb03485.x"},{"key":"e_1_2_1_9_1","first-page":"277","article-title":"The developmental field concept in pediatric pathology\u2010especially with respect to fibular A\/hypoplasia and the DiGeorge anomaly","volume":"23","author":"Opitz JM","year":"1987","journal-title":"Am J Med Genet"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320100212"},{"key":"e_1_2_1_11_1","first-page":"173","article-title":"Familial transmission of a 3q;22p translocation with partial trisomy of chromosome 3 in the propositus","volume":"26","author":"Sod R","year":"1978","journal-title":"J Genet Hum"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00442348"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320100210"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290210"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00272831"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320380403","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320380403","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T21:56:26Z","timestamp":1698011786000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320380403"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,3,15]]},"references-count":14,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1991,3,15]]}},"alternative-id":["10.1002\/ajmg.1320380403"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320380403","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,3,15]]}}}