{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T16:20:21Z","timestamp":1762100421749},"reference-count":8,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,8]],"date-time":"2005-06-08T00:00:00Z","timestamp":1118188800000},"content-version":"vor","delay-in-days":7190,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1985,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A male propositus and an older sister had a similar pattern of congenital anomalies, including facial asymmetry with hypertelorism, frontal bossing and temporal narrowness, a broad nasal bridge, epicanthal folds, a wide mouth with a thin upper lip, micrognathia, webbed neck, low\u2010set posteriorly angulated ears, and an abnormal hairline. There was also postaxial polydactyly, flexion contractures of the digits, hypotonia, and a congenital heart anomaly. The propositus also had renal anomalies whereas the sister did not, and the sister had a cleft lip and palate not present in her brother. The propositus and a subsequent fetus identified through genetic amniocentesis were determined to have a 46,XY, \u2212 18,+der(18),t(17;18)(q25.1;q23)mat chromosome constitution. Clinical findings are compared to those of other reported cases of dup(17q).<\/jats:p>","DOI":"10.1002\/ajmg.1320220203","type":"journal-article","created":{"date-parts":[[2005,9,6]],"date-time":"2005-09-06T13:17:38Z","timestamp":1126012658000},"page":"229-235","source":"Crossref","is-referenced-by-count":20,"title":["Partial duplicaton of distal 17q"],"prefix":"10.1002","volume":"22","author":[{"given":"Julie","family":"Bridge","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Warren","family":"Sanger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gayle","family":"Mosher","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruce","family":"Buehler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Hearty","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ann","family":"Olney","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renee","family":"Fordyce","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,8]]},"reference":[{"issue":"6","key":"e_1_2_1_2_1","first-page":"287","article-title":"Duplication (partial trisomy) of the distal long arm of chromosome 17: A new clinically recognizable chromosome disorder","author":"Berberich M","year":"1978","journal-title":"BD: OAS"},{"key":"e_1_2_1_3_1","first-page":"314","volume-title":"Clinical Atlas of Human Chromosomes","author":"DeGrouchy J","year":"1984"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00569357"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320080113"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170313"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.20.5.383"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1979.tb00849.x"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.16.5.395"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320220203","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320220203","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,27]],"date-time":"2023-09-27T00:30:51Z","timestamp":1695774651000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320220203"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1985,10]]},"references-count":8,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1985,10]]}},"alternative-id":["10.1002\/ajmg.1320220203"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320220203","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1985,10]]}}}