{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:06:10Z","timestamp":1761717970589},"reference-count":5,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":7307,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1985,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A newborn female was found to have a deletion of the terminal portion of 17q. Prominent manifestations included microcephaly, apparent hypertelorism, epicanthic folds, a broad nasal bridge with anteverted nostrils, posteriorly angulated ears, micrognathia, widely spaced nipples, arachnodactyly with proximal thumbs, and a coxa vara deformity. The unbalanced translocation was inherited from the mother, who had a reciprocal translocation involving the terminal portions of 2p and 17q. To the best of our knowledge, this is the first report of a liveborn infant with deletion of the distal portion of 17q with the exception of reports of patients with ring chromosome 17.<\/jats:p>","DOI":"10.1002\/ajmg.1320210204","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T13:24:51Z","timestamp":1118496291000},"page":"225-229","source":"Crossref","is-referenced-by-count":12,"title":["Partial deletion of distal 17q"],"prefix":"10.1002","volume":"21","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":"Robert","family":"Nelson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melonie","family":"Welsh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James","family":"Newland","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Kafka","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":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.18.3.234"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320120212"},{"key":"e_1_2_1_4_1","first-page":"235","article-title":"A case of ring chromosome and 17:46, XX, r(17)(p13q25)","volume":"19","author":"Ono K","year":"1974","journal-title":"Jpn J Hum Genet"},{"key":"e_1_2_1_5_1","first-page":"234","article-title":"Ring chromosome 17 in a mentally retarded boy","volume":"22","author":"Qazi QH","year":"1979","journal-title":"Ann Genet"},{"key":"e_1_2_1_6_1","first-page":"235","article-title":"Identification of isochromosome 17 in a girl with mental retardation and congenital malformations","volume":"18","author":"Salamanca\u2010Gomez F","year":"1975","journal-title":"Ann Genet"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320210204","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320210204","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T21:39:41Z","timestamp":1697837981000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320210204"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1985,6]]},"references-count":5,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1985,6]]}},"alternative-id":["10.1002\/ajmg.1320210204"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320210204","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1985,6]]}}}