{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T14:51:28Z","timestamp":1761058288075},"reference-count":18,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4906,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1992,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We present a patient with 45,X\/46,X, + r(X) mosaicism and lack of inactivation of either the normal or the ring X in the 46,X, + r(X) cells. The patient has mental retardation, syndactyly, minor facial anomalies, and a congenital heart defect. Although most patients with 45,X\/46,X, + r(X) have the Ullrich\u2010Turner syndrome, 2 previously described patients with this karyotype also had a distinct phenotype consisting of severe mental retardation, syndactyly, and abnormal face. The unusually severe phenotype in these patients was thought to be due to lack of X\u2010inactivation of the ring X chromosome. The findings in our patient support this hypothesis.<\/jats:p>","DOI":"10.1002\/ajmg.1320420110","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T04:33:06Z","timestamp":1118550786000},"page":"39-43","source":"Crossref","is-referenced-by-count":34,"title":["45,X\/46,X, + r(X) can have a distinct phenotype different from Ullrich\u2010Turner syndrome"],"prefix":"10.1002","volume":"42","author":[{"given":"M.","family":"Grompe","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Rao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F. F. B.","family":"Elder","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C. T.","family":"Caskey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Greenberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_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_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1983.tb01980.x"},{"key":"e_1_2_1_4_1","volume-title":"Comparative Study of Infants With Mosaic and Complete Triploidy: An Analysis of 55 Cases","author":"Blackburn WR","year":"1982"},{"issue":"3","key":"e_1_2_1_4_2","first-page":"251","article-title":"National Foundation\u2010March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/349038a0"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00270556"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00283735"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.ge.22.120188.001215"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00284433"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1159\/000132727"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1990.tb03505.x"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280304"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00292912"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0020-7292(84)90089-4"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00496795"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2836(75)80083-0"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00278961"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.83.15.5611"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320420110","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320420110","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T13:49:35Z","timestamp":1698068975000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320420110"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,1]]},"references-count":18,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1992,1]]}},"alternative-id":["10.1002\/ajmg.1320420110"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320420110","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,1]]}}}