{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T04:50:44Z","timestamp":1761540644265},"reference-count":7,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,5]],"date-time":"2005-06-05T00:00:00Z","timestamp":1117929600000},"content-version":"vor","delay-in-days":6334,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1988,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A ring chromosome 12 (p13.3q24.3) was observed in all cells analyzed from skin fibroblasts and the peripheral blood of a 19\u2010year\u2010old man initially referred for developmental delay with expressive language deficiency. Other phenotypic anomalies included growth deficiency, multiple caf\u00e9\u2010au\u2010lait spots, mild pectus excavatum, glandular hypospadias. left esotropia, clinodactyly of the fifth lingers, and hypothy\u2010roidism with elevated antithyroid antibodies. The four previously reported cases of r(l2) support the theory of a general ring phenotypc which is manifested independently of the specific autosome involved and which is characterized by growth failure, moderate mental retardation, and lack of other major phenotypic anomalies. Break\u2010points in all cases of r(12) have been assigned to the telomeric regions, suggesting minimal deletion of chromosome material.<\/jats:p>","DOI":"10.1002\/ajmg.1320290228","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:12:18Z","timestamp":1118545938000},"page":"437-440","source":"Crossref","is-referenced-by-count":17,"title":["Ring chromosome 12"],"prefix":"10.1002","volume":"29","author":[{"given":"Jonathan P.","family":"Park","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"Jr.","given":"John M.","family":"Graham","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia A.","family":"Andrews","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Doris H.","family":"Wurster\u2010Hill","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Optiz","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":[[2005,6,5]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/250467a0"},{"key":"e_1_2_1_3_1","first-page":"231","article-title":"The cytogenetic and clinical implications of a ring chromosome 2","volume":"24","author":"C\u00f4t\u00e9 GB","year":"1981","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_4_1","first-page":"209","article-title":"Chromosome banding techniques in clinical cytogenetics: Report of four cases irresolvable by conventional methods: Chromosome identifications","volume":"23","author":"Hamerton JL","year":"1973","journal-title":"Nobel Symposium"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00591082"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.14.3.228"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320050210"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1159\/000131525"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320290228","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320290228","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,27]],"date-time":"2023-09-27T04:41:33Z","timestamp":1695789693000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320290228"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1988,2]]},"references-count":7,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1988,2]]}},"alternative-id":["10.1002\/ajmg.1320290228"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320290228","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"type":"print","value":"0148-7299"},{"type":"electronic","value":"1096-8628"}],"subject":[],"published":{"date-parts":[[1988,2]]}}}