{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T21:59:42Z","timestamp":1700171982606},"reference-count":13,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,5]],"date-time":"2005-06-05T00:00:00Z","timestamp":1117929600000},"content-version":"vor","delay-in-days":6030,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1988,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A cytogenetic investigation was carried out among 200 mentally retarded boys in Greece for the detection of the fragile X [fra(X)] syndrome. Thirteen patients were found to carry fra(X) (6.5%). Of those, six boys had a history of familial X\u2010linked mental retardation, two had the phenotype of the Martin\u2010Bell syndrome, four had only mental retardation of unknown etiology, and one was a mentally retarded patient with Klinefelter syndrome. The remaining 187 boys were fra(X) negative. Our findings emphasize the importance of early identification of this syndrome in the diagnosis and prevention, through proper genetic counselling, of mental retardation.<\/jats:p>","DOI":"10.1002\/ajmg.1320310403","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T00:53:04Z","timestamp":1118537584000},"page":"735-739","source":"Crossref","is-referenced-by-count":12,"title":["Martin\u2010Bell syndrome in Greece, with report of another 47,XXY fragile X patient"],"prefix":"10.1002","volume":"31","author":[{"given":"Ariadni","family":"Mavrou","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Syrrou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Tsenghi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manthos","family":"Agelakis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sotiris","family":"Youroukos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine","family":"Metaxotou","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":[[2005,6,5]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00279092"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1983.tb00092.x"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(87)80392-X"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00303019"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291535"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb01086.x"},{"key":"e_1_2_1_8_1","first-page":"211","article-title":"Diagnosis of the fragile X syndrome (Martin\u2010Bell syndrome). Clinical findings in 27 males with the fragile site at Xq28","volume":"27","author":"Nielsen KB","year":"1983","journal-title":"J Ment Defic Res"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170103"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.877551"},{"key":"e_1_2_1_11_1","volume-title":"Fragile Sites on Human Chromosomes","author":"Sutherland GR","year":"1985"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198405313102214"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.23.5.396"},{"key":"e_1_2_1_14_1","first-page":"61","article-title":"A cytogenetic survey of a mentally retarded school\u2010age population with special reference to fragile sites","volume":"31","author":"Webb TP","year":"1987","journal-title":"J Ment Defic Res"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320310403","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320310403","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T20:35:30Z","timestamp":1698006930000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320310403"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1988,12]]},"references-count":13,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1988,12]]}},"alternative-id":["10.1002\/ajmg.1320310403"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320310403","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1988,12]]}}}