{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T22:53:46Z","timestamp":1780354426520,"version":"3.54.1"},"reference-count":11,"publisher":"BMJ","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1998,12]]},"abstract":"<jats:p>A family with X linked inheritance of mental retardation (XLMR) is presented. There are 10 mentally retarded males and two affected females in two generations. There are four obligatory carriers, one of whom is described as \"slow\". Most affected males show macrocephaly and macro-orchidism, which are typical signs of the fragile X syndrome, but have been tested cytogenetically and by analysis of the FMR1 gene and do not have this syndrome. However, some normal males in the family also exhibit macro-orchidism and macrocephaly. Linkage analysis using markers derived from the X chromosome indicates that the causative gene in this family is located in the proximal long arm of the X chromosome, in the interval Xp11-q21. Maximum lod scores of 2.96 with no recombination were found at three loci in Xq13-q21: DXS1111, DXS566, and DXS986. Recombination was observed with DXS1002 (Xq21.31) and DXS991 (Xp11.2), loci separated by about 30 Mb. Although isolation of the gene in this family will be difficult because of the size of the region involved, the localisation should be helpful in investigating other similar families with XLMR, macrocephaly, and macro-orchidism not attributable to FMR1.<\/jats:p>","DOI":"10.1136\/jmg.35.12.1026","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"1026-1030","source":"Crossref","is-referenced-by-count":14,"title":["A family with mental retardation, variable macrocephaly and macro-orchidism, and linkage to Xq12-q21."],"prefix":"10.1136","volume":"35","author":[{"given":"J P","family":"Johnson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"Nelson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C E","family":"Schwartz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1998,12,1]]},"reference":[{"key":"ref_1","first-page":"176","article-title":"Stevenson review aRnEd.maNpopnisnygndorfoMmiRcX2X9-litnokXepd2lm.enCtlailn retardation: Genet","volume":"50","author":"Hane, B.; Schroer Arena, J.F.; Lubs, H.A.; Schwartz, C.E.","year":"1996","unstructured":"Hane B, Schroer Arena JF, Lubs HA, Schwartz CE, Stevenson review aRnEd.maNpopnisnygndorfoMmiRcX2X9-litnokXepd2lm.enCtlailn retardation: Genet 1996; 50:176-83."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1016\/0092-8674(95)90287-2","article-title":"Mutations in a putative global transcriptional regulator cause X-linked mental retardation with thalassemia","volume":"80","year":"1995","unstructured":"Gibbons RJ, Picketts DJ, Villard L, Higgs DR. Mutations in a putative global transcriptional regulator cause X-linked mental retardation with thalassemia. Cell 1995;80:837-45.","journal-title":"Cell"},{"key":"ref_3","first-page":"106","article-title":"A new mental retardation syndrome mapping to the pericentromeric region of the X-chromosome","volume":"51","author":"Porteous, M.E.M.; Johnson, H.; Burn, J.","year":"1991","unstructured":"Porteous MEM, Johnson H, Burn J, et al. A new mental retardation syndrome mapping to the pericentromeric region of the X-chromosome. Am _7 Hum Genet 1991;51: A106.","journal-title":"Am _7 Hum Genet"},{"key":"ref_4","first-page":"153","article-title":"X-linked neuropathy: gene localization with DNA probes. Am _'","volume":"37","author":"Fishbeck, K.H.; ar-rushdi N; Rozear, M.; Pericak-Vance, M.; Fryns, J.","year":"1985","unstructured":"Fishbeck KH, ar-rushdi N, Rozear M, Pericak-Vance M, Fryns J. X-linked neuropathy: gene localization with DNA probes. 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AmJIHum Genet 1990;47:454-8.","journal-title":"AmJIHum Genet"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1002\/ajmg.1320280137","article-title":"Close linkage of the Wieacker-Wolff syndrome to the DNA segment DXYS 1 in proximal Xq","volume":"28","author":"Wieacker, P.; Wolff, G.; Wienker, T.F.","year":"1987","unstructured":"Wieacker P, Wolff G, Wienker TF. Close linkage of the Wieacker-Wolff syndrome to the DNA segment DXYS 1 in proximal Xq. Am Med Genet 1987;28:245-53.","journal-title":"Am Med Genet"},{"key":"ref_8","article-title":"Renpenning syndrome: evidence for pericentric location of the gene in two families, including the original Renpenning family. Paper presented at","volume-title":"the 6th International Workshop ofFragile X and X-linked Mental Retardation, Palm Cove, Australia","author":"Schwartz, C.E.; Ouzts, L.; Gibson, A.","year":"1993","unstructured":"Schwartz CE, Ouzts L, Gibson A, et al. Renpenning syndrome: evidence for pericentric location of the gene in two families, including the original Renpenning family. Paper presented at the 6th International Workshop ofFragile X and X-linked Mental Retardation, Palm Cove, Australia, August 3-6, 1993."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1002\/(SICI)1096-8628(19960712)64:1<78::AID-AJMG12>3.0.CO;2-P","article-title":"Gene localisation for Sutherland-Haan syndrome (SHS: MIM 309470)","volume":"64","author":"Gedeon, A.; Mulley, J.; Haan, E.","year":"1996","unstructured":"Gedeon A, Mulley J, Haan E. Gene localisation for Sutherland-Haan syndrome (SHS: MIM 309470). Am Jf Med Genet 1996;64:78-9.","journal-title":"Am Jf Med Genet"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1002\/(SICI)1096-8628(19960712)64:1<80::AID-AJMG13>3.0.CO;2-O","article-title":"Gene localisation for Wilson-Turner syndrome","volume":"64","author":"Gedeon, A.; Mulley, J.; Turner, G.","year":"3095","unstructured":"Gedeon A, Mulley J, Turner G. Gene localisation for Wilson-Turner syndrome (WTS: MIM 309585). Am Med Genet 1996;64:80-1.","journal-title":"Am Med Genet"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1002\/ajmg.1320380209","article-title":"Unique X-linked mental retardation syndrome with fingertip arches and contractures linked to Xq2l.31","volume":"38","author":"Miles, J.H.; Carpenter, N.J.","year":"1991","unstructured":"Miles JH, Carpenter NJ. Unique X-linked mental retardation syndrome with fingertip arches and contractures linked to Xq2l.31. 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