{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,27]],"date-time":"2025-05-27T12:57:48Z","timestamp":1748350668208},"reference-count":5,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":7764,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1984,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a boy with the syndrome due to dup(17q) resulting from a paternal balanced t(12;17) (q24;q23). The comparison of the clinical findings in our patient with those previously reported shows that the dup(17q23 \u2192 qter) is associated with a clinically recognizable syndrome. Anomalies present in \u2265 75% of the patients were severe psychomotor retardation; short stature; microcephaly; frontal bossing and temporal retraction; widow's peak; narrow palpebral fissures; flat nasal bridge; thin upper lip overlapping thin lower lip; downturned corners of the mouth; apparently low\u2010set, posteriorly angulated and malformed ears; low posterior hairline; widely spaced nipples; cryptorchidism; proximal limb shortness; and hyperlaxity of limb joints.<\/jats:p><jats:p>The translocation carrier father of our patient had a Poland anomaly.<\/jats:p>","DOI":"10.1002\/ajmg.1320170313","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T19:38:39Z","timestamp":1118518719000},"page":"633-639","source":"Crossref","is-referenced-by-count":22,"title":["Duplication of distal 17q: Report of an observation"],"prefix":"10.1002","volume":"17","author":[{"given":"Nadyr F.","family":"Naccache","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela M.","family":"Vianna\u2010Morgante","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Richieri\u2010Costa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","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","volume-title":"Duplication (partial trisomy) of the distal long arm of chromosome 17: A new recognizable chromosome disorder","author":"Berberich MS","year":"1978"},{"issue":"6","key":"e_1_2_1_2_2","first-page":"287","author":"The National Foundation\u2014March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320080113"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320120408"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1979.tb00849.x"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320170313","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320170313","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,19]],"date-time":"2023-10-19T20:34:15Z","timestamp":1697747655000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320170313"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1984,3]]},"references-count":5,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1984,3]]}},"alternative-id":["10.1002\/ajmg.1320170313"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320170313","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1984,3]]}}}