{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T23:17:15Z","timestamp":1698362235147},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":4324,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We present a girl with a mos45,X, \u221221, +der(21)t(X;21) (p21.3;p11.2)\/46,X,t(X;21) (p21.3;p11.2) chromosome constitution. The ratio of these cells was 59\/26 in phytohemagglutinin (PHA)\u2010 stimulated lymphocytes. The 45,X,der(21) t(Xp\u2013;21p+) cells lacked an X inactivation center located at Xq13 on the derivative X chromosome; in these cells, the whole normal X chromosome and the distal part of Xp translocated onto the derivative chromosome 21 were early replicating. She had moderate mental retardation and other findings different from those that occur in the Ullrich\u2010Turner syndrome. Her phenotype may be due to the functional excess of the distal part of Xp on the derivative 21 in 45,X,der(21)t(Xp\u2013;21p+) cells; thus, this might be another type of the \u201clack of X\u2010inactivation\u201d syndrome. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320470109","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:05:55Z","timestamp":1118509555000},"page":"41-44","source":"Crossref","is-referenced-by-count":4,"title":["Lack of X inactivation: Loss of one X inactivation center in a case with mos45,X, \u201321, +der(21)t(X;21) (p21.3;p11.2)\/46,X,t(X;21) (p21.3;p11.2)"],"prefix":"10.1002","volume":"47","author":[{"given":"Satoshi","family":"Ishikiriyama","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mizue","family":"Iai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuzo","family":"Tanabe","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":"10.1038\/349038a0"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00338131"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1159\/000133019"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00332115"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00290996"},{"key":"e_1_2_1_7_1","first-page":"136","article-title":"Mental retardation associated with \u201cbalanced\u201d chromosome rearrangements","volume":"29","author":"Funderburk SJ","year":"1977","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420110"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/249164a0"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01997700"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280304"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00280283"},{"key":"e_1_2_1_13_1","first-page":"135","article-title":"Sex chromatin and gene action in mamalian X\u2010chromosome","volume":"14","author":"Lyon MF","year":"1962","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00284758"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.76.11.5779"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00303003"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1980.tb00155.x"},{"key":"e_1_2_1_18_1","first-page":"410","article-title":"Multiple abnormalities due to possible genetic inactivation in an X\/autosome translocation","volume":"23","author":"Thelen TH","year":"1971","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00278961"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00284895"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320010307"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320470109","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320470109","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T20:05:11Z","timestamp":1698177911000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320470109"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,8]]},"references-count":20,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1993,8]]}},"alternative-id":["10.1002\/ajmg.1320470109"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320470109","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,8]]}}}