{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,8,25]],"date-time":"2024-08-25T11:26:43Z","timestamp":1724585203154},"reference-count":8,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,2]],"date-time":"2005-06-02T00:00:00Z","timestamp":1117670400000},"content-version":"vor","delay-in-days":6423,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1987,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Two white females, age 2 1\/2 and 33 years, respectively, were investigated because of severe mental retardation associated with neurologic abnormalities, coarse face, and soft tissue syndactyly involving upper and lower limbs. Each had cytogenetic findings of a mosaic variant of Ullrich\u2010Turner syndrome with X ring chromosome in peripheral lymphocyte and skin fibroblasts. Early X replication occurred in one\u2010third of the X ring chromosomes; there was no evidence for X\u2010autosome translocation involving either X and an autosomal duplication; results of studies for fragility of the X chromosomes were unremarkable. In situ hybridization with an X centromere probe was positive for the ring. To our knowledge, the unusual constellation of cytogenetic, physical, and mental findings seen in these 2 individuals has not been reported previously.<\/jats:p>","DOI":"10.1002\/ajmg.1320280304","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T00:49:50Z","timestamp":1118537390000},"page":"567-574","source":"Crossref","is-referenced-by-count":40,"title":["45X\/46X,r(X) with syndactyly and severe mental retardation"],"prefix":"10.1002","volume":"28","author":[{"given":"Theodore","family":"Kushnick","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas G.","family":"Irons","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John E.","family":"Wiley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth A.","family":"Gettig","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathleen W.","family":"Rao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan","family":"Bowyer","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":[[2005,6,2]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1542\/peds.71.2.262","article-title":"Speech and language development in 41 children with sex chromosome anomalies","volume":"71","author":"Bender B","year":"1983","journal-title":"Pediatrics"},{"key":"e_1_2_1_3_1","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1542\/peds.73.2.175","article-title":"Cognitive development of unselected girls with complete and partial X monosomy","volume":"73","author":"Bender B","year":"1984","journal-title":"Pediatrics"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00279048"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-12-775155-9.50014-X"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.79.14.4381"},{"key":"e_1_2_1_7_1","first-page":"182","article-title":"Inactivation centers in the human X chromosome","volume":"34","author":"Nakagome Y","year":"1982","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291574"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00295590"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320280304","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320280304","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,21]],"date-time":"2023-10-21T18:09:22Z","timestamp":1697911762000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320280304"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1987,11]]},"references-count":8,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1987,11]]}},"alternative-id":["10.1002\/ajmg.1320280304"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320280304","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1987,11]]}}}