{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T00:13:36Z","timestamp":1760832816604,"version":"build-2065373602"},"reference-count":32,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[1999,6,16]]},"published-print":{"date-parts":[[1999,10,1]]},"abstract":"<jats:p>Two unrelated mildly retarded males with inversions of the X chromosome and non-specific mental retardation (MRX) are described. Case 1 has a pericentric inversion 46,Y,inv(X)(p11.1q13.1) and case 2 a paracentric inversion 46,Y,inv(X) (q13.1q28). Both male patients have severe learning difficulties. The same chromosomal abnormalities were found in their mothers who are intellectually normal. Fluorescence in situ hybridisation mapping showed a common area of breakage of each of the inverted chromosomes in Xq13.1 near DXS131 and DXS162. A detailed long range restriction map of the breakpoint region was constructed using YAC, PAC, and cosmid clones. We show that the two inverted chromosomes break within a short 250 kb region. Moreover, a group of ESTs corresponding to an as yet uncharacterised gene was mapped to the same critical interval. We hypothesise that the common inversion breakpoint region of the two cases in Xq13.1 may contain a new MRX gene.<\/jats:p>","DOI":"10.1136\/jmg.36.10.754","type":"journal-article","created":{"date-parts":[[2013,2,15]],"date-time":"2013-02-15T13:28:56Z","timestamp":1360934936000},"page":"754-758","source":"Crossref","is-referenced-by-count":10,"title":["Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1"],"prefix":"10.1136","volume":"36","author":[{"given":"Laurent","family":"Villard","sequence":"first","affiliation":[{"name":"aINSERM U491, Universit\u00e9 de la M\u00e9diterran\u00e9e, Facult\u00e9 de M\u00e9decine La Timone, 27 Bd J Moulin, 13385 Marseille, France, \n\nbService de G\u00e9n\u00e9tique, H\u00f4pital Bretonneau, 2 Bd Tonnell\u00e9, 37044 Tours, France, \n\ncAllamanda Medical Centre, Southport, Australia, \n\ndDepartment of Cytogenetics and Molecular Genetics, Women\u2019s and Children\u2019s Hospital, Adelaide, Australia, \n\neLaboratoire de Cytog\u00e9n\u00e9tique, Centre Hospitalier de Chambery, 73000 Chambery, France, \n\nfD\u00e9partement de G\u00e9n\u00e9tique, H\u00f4pital Necker-Enfants Malades, 149"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sylvain","family":"Briault","sequence":"additional","affiliation":[{"name":"aINSERM U491, Universit\u00e9 de la M\u00e9diterran\u00e9e, Facult\u00e9 de M\u00e9decine La Timone, 27 Bd J Moulin, 13385 Marseille, France, \n\nbService de G\u00e9n\u00e9tique, H\u00f4pital Bretonneau, 2 Bd Tonnell\u00e9, 37044 Tours, France, \n\ncAllamanda Medical Centre, Southport, Australia, \n\ndDepartment of Cytogenetics and Molecular Genetics, Women\u2019s and Children\u2019s Hospital, Adelaide, Australia, \n\neLaboratoire de Cytog\u00e9n\u00e9tique, Centre Hospitalier de Chambery, 73000 Chambery, France, \n\nfD\u00e9partement de G\u00e9n\u00e9tique, H\u00f4pital Necker-Enfants Malades, 149"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne-Marie","family":"Lossi","sequence":"additional","affiliation":[{"name":"aINSERM U491, Universit\u00e9 de la M\u00e9diterran\u00e9e, Facult\u00e9 de M\u00e9decine La Timone, 27 Bd J Moulin, 13385 Marseille, France, \n\nbService de G\u00e9n\u00e9tique, H\u00f4pital Bretonneau, 2 Bd Tonnell\u00e9, 37044 Tours, France, \n\ncAllamanda Medical Centre, Southport, Australia, \n\ndDepartment of Cytogenetics and Molecular Genetics, Women\u2019s and Children\u2019s Hospital, Adelaide, Australia, \n\neLaboratoire de Cytog\u00e9n\u00e9tique, Centre Hospitalier de Chambery, 73000 Chambery, France, \n\nfD\u00e9partement de G\u00e9n\u00e9tique, H\u00f4pital Necker-Enfants Malades, 149"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Paringaux","sequence":"additional","affiliation":[{"name":"aINSERM U491, Universit\u00e9 de la M\u00e9diterran\u00e9e, Facult\u00e9 de 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Cytogenetics and Molecular Genetics, Women\u2019s and Children\u2019s Hospital, Adelaide, Australia, \n\neLaboratoire de Cytog\u00e9n\u00e9tique, Centre Hospitalier de Chambery, 73000 Chambery, France, \n\nfD\u00e9partement de G\u00e9n\u00e9tique, H\u00f4pital Necker-Enfants Malades, 149"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laurence","family":"Colleaux","sequence":"additional","affiliation":[{"name":"aINSERM U491, Universit\u00e9 de la M\u00e9diterran\u00e9e, Facult\u00e9 de M\u00e9decine La Timone, 27 Bd J Moulin, 13385 Marseille, France, \n\nbService de G\u00e9n\u00e9tique, H\u00f4pital Bretonneau, 2 Bd Tonnell\u00e9, 37044 Tours, France, \n\ncAllamanda Medical Centre, Southport, Australia, \n\ndDepartment of Cytogenetics and Molecular Genetics, Women\u2019s and Children\u2019s Hospital, Adelaide, Australia, \n\neLaboratoire de Cytog\u00e9n\u00e9tique, Centre Hospitalier de Chambery, 73000 Chambery, France, \n\nfD\u00e9partement de G\u00e9n\u00e9tique, 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