{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T22:50:56Z","timestamp":1772578256068,"version":"3.50.1"},"reference-count":10,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,5,16]],"date-time":"2005-05-16T00:00:00Z","timestamp":1116201600000},"content-version":"vor","delay-in-days":3759,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1995,1,30]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a new kindred containing 4 patients with X\u2010linked \u03b1\u2010thalassemia\/mental retardation syndrome ((ATR\u2010X). Like previously reported ATR\u2010X patients, these children are all genetic males with severe developmental delay and characteristic facial appearance. The genital anomalies are more severe than in most previous cases and have led to a female sex of rearing for 3 of the 4 patients. The hematologic expression is extremely mild and was not demonstrable on routine hematologic studies including hemoglobin electrophoresis, but the three living patients all had hemoglobin H inclusions on brilliant cresyl blue stained peripheral smears. The combination of skewed X\u2010inactivation and haplotype analysis at Xq12\u2010q21.3 confirmed carrier status in the 3 obligate carriers in the kindred and led to identification of an additional carrier. Two other women in the kindred appear to be noncarriers on the basis of normal X\u2010inactivation and\/or inheritance of a different Xq12\u201021.3 haplotype. More widespread use of brilliant cresyl blue staining for HbH inclusions in individuals with the facial phenotype of ATR\u2010X and\/or ambiguous genitalia may lead to the identification of more affected patients and improved understanding of the clinical spectrum of ATR\u2010X. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320550311","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:55:13Z","timestamp":1118512513000},"page":"302-306","source":"Crossref","is-referenced-by-count":39,"title":["X\u2010linked \u03b1\u2010thalassemia\/mental retardation (ATR\u2010X) syndrome: A new kindred with severe genital anomalies and mild hematologic expression"],"prefix":"10.1002","volume":"55","author":[{"given":"Elizabeth W.","family":"McPherson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michele M.","family":"Clemens","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard J.","family":"Gibbons","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Douglas R.","family":"Higgs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,5,16]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.11.734"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.11.742"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.11.729"},{"key":"e_1_2_1_5_1","first-page":"1136","article-title":"X\u2010linked \u03b1\u2010thalassemia\/mental retardation (ATR\u2010X) syndrome: Localization to Xq12\u2010q21.31 by X inactivation and linkage analysis","volume":"51","author":"Gibbons RJ","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.9.577"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1159\/000181004"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.5.339"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198109103051103"},{"key":"e_1_2_1_10_1","first-page":"1127","article-title":"Clinical features and molecular analysis of the \u03b1\u2010thalassemia\/mental retardation syndromes. II. Cases without detectable abnormality of the \u03b1 globin complex","volume":"46","author":"Wilkie AOM","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.11.738"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320550311","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320550311","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,27]],"date-time":"2023-10-27T03:31:09Z","timestamp":1698377469000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320550311"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,1,30]]},"references-count":10,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1995,1,30]]}},"alternative-id":["10.1002\/ajmg.1320550311"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320550311","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,1,30]]}}}