{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:48:25Z","timestamp":1760730505049,"version":"build-2065373602"},"reference-count":7,"publisher":"BMJ","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1991,11]]},"abstract":"<jats:p>In 1990 the existence of an X linked form of the alpha thalassaemia\/mental retardation syndrome was postulated after the description of six isolated cases who were all cytogenetically male. The segregation pattern in the family described here supports X linked inheritance. The clinical details of our two patients are remarkably similar to the previously delineated phenotype. In addition, renal anomalies were identified in one patient, but their significance will remain uncertain until further cases have been assessed. Affected subjects could be identified by the presence of Hb H inclusions, and were also noted to have abnormalities of several haematological indices. Examination of blood from obligatory carriers in this family suggests that Hb H inclusions are not an invariable finding and that haematological indices appear to be unaffected by the condition in female heterozygotes.<\/jats:p>","DOI":"10.1136\/jmg.28.11.734","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"734-737","source":"Crossref","is-referenced-by-count":15,"title":["Alpha thalassaemia\/mental retardation syndrome (non-deletional type): report of a family supporting X linked inheritance."],"prefix":"10.1136","volume":"28","author":[{"given":"T R","family":"Cole","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"May","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H E","family":"Hughes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1991,11,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1056\/NEJM198109103051103","article-title":"disease and mental retardation - a new syndrome or a remarkable coincidence?","volume":"305","author":"Weatherall, J.; Higgs, D.R.; Bunch, C.","year":"1981","unstructured":"Weatherall J, Higgs DR, Bunch C, et al. Hemoglobin H disease and mental retardation - a new syndrome or a remarkable coincidence? N Engl J Med 1981;305:607-12.","journal-title":"N Engl J Med"},{"key":"ref_2","first-page":"1127","article-title":"Clinical features and molecular analysis of the a thalassemia\/mental retardation syndromes. II. Cases without detectable abnormality of the a globin complex","volume":"46","author":"Wilkie, A.O.M.; Zeitlin, H.C.; Lindenbaum, R.H.","year":"1990","unstructured":"Wilkie AOM, Zeitlin HC, Lindenbaum RH, et al. Clinical features and molecular analysis of the a thalassemia\/mental retardation syndromes. II. Cases without detectable abnormality of the a globin complex. AmJ Hum Genet 1990;46:1127-40.","journal-title":"AmJ Hum Genet"},{"key":"ref_3","first-page":"186","article-title":"Practical haematology","author":"Dacie, J.V.; Lewis, S.M.","year":"1984","unstructured":"Dacie JV, Lewis SM. Practical haematology. 6th ed. Edinburgh: Churchill Livingstone, 1984:186.","edition":"6th ed"},{"key":"ref_4","first-page":"375","article-title":"Iron overload in mild sideroblastic anaemias","volume":"i:","author":"Peto, T.E.A.; Pippard, M.J.; Weatherall, D.J.","year":"1983","unstructured":"Peto TEA, Pippard MJ, Weatherall DJ. Iron overload in mild sideroblastic anaemias. Lancet 1983;i:375-8.","journal-title":"Lancet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1136\/jmg.27.1.26","article-title":"A study of congenital X linked sideroblastic anaemia","volume":"27","author":"Holmes, J.; May, A.; Geddes, D.; Jacobs, A.","year":"1990","unstructured":"Holmes J, May A, Geddes D, Jacobs A. A study of congenital X linked sideroblastic anaemia. J Med Genet 1990;27:26-8.","journal-title":"J Med Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1136\/jmg.27.9.577","article-title":"Occurrence of the a thalassaemia-mental retardation syndrome (non-deletional type) in an Australian male","volume":"27","author":"Harvey, M.P.; Kearney, A.; Smith, A.","year":"1990","unstructured":"Harvey MP, Kearney A, Smith A, et al. Occurrence of the a thalassaemia-mental retardation syndrome (non-deletional type) in an Australian male. J Med Genet 1990;27:577-81.","journal-title":"J Med Genet"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1002\/ajmg.1320310404","article-title":"Mental retardation, distinct facial changes, short stature, obesity, and hypogonadism: a new X linked mental retardation syndrome","volume":"31","author":"Chudley, A.E.; Lowry, R.B.; Hoar, D.I.","year":"1988","unstructured":"Chudley AE, Lowry RB, Hoar DI. Mental retardation, distinct facial changes, short stature, obesity, and hypogonadism: a new X linked mental retardation syndrome. Am J Med Genet 1988;31:741-51.","journal-title":"Am J Med Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.28.11.734","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:10:55Z","timestamp":1760728255000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.28.11.734"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,11]]},"references-count":7,"journal-issue":{"issue":"11","published-online":{"date-parts":[[1991,11,1]]},"published-print":{"date-parts":[[1991,11]]}},"alternative-id":["10.1136\/jmg.28.11.734"],"URL":"https:\/\/doi.org\/10.1136\/jmg.28.11.734","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1991,11]]}}}