{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T07:19:14Z","timestamp":1790752754704,"version":"4.1.0"},"reference-count":82,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1984,4]]},"abstract":"<jats:p>We have reviewed recent publications, mostly from 1980 onwards, concerned with the problem of identifying patients with the fragile X chromosome and mental retardation, considering the two practical sides of the problem, that is, identification by their external appearance and by chromosomal studies. We conclude that this condition covers a large range of physical findings which occur in varying degrees in people with the chromosome marker. We have tried to clarify the existent criteria that have to be considered for an accurate cytogenetic diagnosis.<\/jats:p>","DOI":"10.1136\/jmg.21.2.84","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"84-91","source":"Crossref","is-referenced-by-count":20,"title":["The fragile X syndrome: the patients and their chromosomes."],"prefix":"10.1136","volume":"21","author":[{"given":"M A","family":"De Arce","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Kearns","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1984,4,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1136\/jmg.14.1.46","article-title":"Familial X-linked mental retardation with an X chromosome abnormality","volume":"14","author":"Harvey, J.; Judge, C.; Wiener, S.","year":"1977","unstructured":";21:231-44.","journal-title":"J Med Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"662","DOI":"10.1056\/NEJM198009183031202","article-title":"Heterozygous expression of X-linked mental retardation and the marker X: fra","volume":"303","author":"Turner, G.; Brookwell, R.; Daniel, A.; Selikowitz, M.; Zilibowitz, M.","year":"1980","unstructured":"Harvey J, Judge C, Wiener S. Familial X-linked mental retardation with an X chromosome abnormality. J Med Genet 1977;14:46-50.","journal-title":"N EnglJ Med"},{"key":"ref_3","first-page":"60","article-title":"Apparent homozygosity for the fragile site at Xq28 in a normal female","volume":"61","author":"Nielsen, K.B.; N, Tommerup; H, Paulsen; M, Mikkelson","year":"1982","unstructured":"Turner G, Brookwell R, Daniel A, Selikowitz M, Zilibowitz M. Heterozygous expression of X-linked mental retardation and the marker X: fra (X) (q27). N EnglJ Med 1980;303:662-4.","journal-title":"Hunm Genet"},{"key":"ref_4","first-page":"214","article-title":"Familial X-linked mental retardation, verbal disability and marker X chromosomes","volume":"31","author":"Howard-Peebles, P.N.; Stoddard, G.R.; Mims, M.G.","year":"1979","unstructured":"Nielsen, KB, Tommerup N, Paulsen H, Mikkelson M. Apparent homozygosity for the fragile site at Xq28 in a normal female. 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X-linked mental retardation with macroorchidism. J Med Genet 1975;12:367-71.","journal-title":"Hum Genet"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1646","DOI":"10.1001\/jama.1977.03280160040025","article-title":"X-linked mental deficiency megalotestes syndrome","volume":"238","author":"Ruvalcaba, R.H.A.; Myhre, S.A.; Roosen-Runge, E.C.; Beckwith, J.B.","year":"1977","unstructured":"Cantu JM, Scaglia HE, Medina M, et al. Inherited congenital normo-functional testicular hyperplasia and mental deficiency. Hum Genet 1976;33:23-33.","journal-title":"JAMA"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"1415","DOI":"10.1056\/NEJM197706162962423","article-title":"Marker X chromosomes and mental retardation","volume":"296","author":"Sutherland, G.R.","year":"1977","unstructured":"Ruvalcaba RHA, Myhre SA, Roosen-Runge EC, Beckwith JB. X-linked mental deficiency megalotestes syndrome. 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The diagnosis and frequency of X-linked conditions in a cohort of moderately retarded males with affected brothers. Am J Med Genet 1983;14:713-24.","journal-title":"Hum Genet"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1007\/BF00399389","article-title":"X-linked mental retardation with macro-orchidism and marker-X chromosomes","volume":"50","author":"Howard-Peebles, P.N.; Stoddard, G.R.","year":"1979","unstructured":"Schmidt A. Fragile site Xq27 and mental retardation. Clinical and cytogenetic manifestation in heterozygotes and hemizygotes of five kindreds. Hum Genet 1982;60: 322-7.","journal-title":"Hum Genet"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1002\/ajmg.1320070405","article-title":"X-linked mental retardation with macroorchidism and marker-X chromosomes","volume":"7","author":"Martin RH, Lin CC, Mathies BJ, Lavry RB","year":"1980","unstructured":"Howard-Peebles PN, Stoddard GR. X-linked mental retardation with macro-orchidism and marker-X chromosomes. Hum Genet 1979;50:247-51.","journal-title":"Am J Hum Genet"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1002\/ajmg.1320070408","article-title":"X-linked mental retardation: a study of 7 families","volume":"7","author":"Jacobs, P.A.; Glover, T.W.; Mayer, M.","year":"1980","unstructured":"Martin RH, Lin CC, Mathies BJ, Lavry RB. X-linked mental retardation with macroorchidism and marker-X chromosomes. Am J Hum Genet 1980;7:433-41.","journal-title":"Am J Med Genet"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1007\/BF00282817","article-title":"Further delineation of X-linked mental retardation","volume":"58","author":"Herbst, D.S.; Dunn, H.G.; Dill, F.J.; Kalousek, D.K.; Krywaniuk, L.W.","year":"1981","unstructured":"Jacobs PA, Glover TW, Mayer M, et al. X-linked mental retardation: a study of 7 families. 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(Letter) N EnglJ Med 1979;300:737-8.","journal-title":"Hum Genet"},{"key":"ref_28","first-page":"240","article-title":"Testicular size: assessment and clinical importance","volume":"7","author":"Prader, A.","year":"1966","unstructured":"Mattei JF, Mattei MG, Aumeras C, Auger M, Giraud F. X-linked mental retardation with the fragile X. A study of 15 families. Hum Genet 1981;59:'81-9.","journal-title":"Triangle"},{"key":"ref_29","first-page":"61","article-title":"Testicular volume during adolescence","volume":"29","author":"Zachmann, M.; Prader, A.; Kind, H.P.; Hafliger, H.; Budliger, H.","year":"1974","unstructured":"Prader A. Testicular size: assessment and clinical importance. Triangle 1966;7:240-3.","journal-title":"Helv Paediatr Acta"},{"key":"ref_30","first-page":"401","article-title":"Editorial comment: X-linked mental retardation","volume":"7","author":"Turner, G.; M, Opitz J.","year":"1980","unstructured":"Zachmann M, Prader A, Kind HP, Hafliger H, Budliger H. Testicular volume during adolescence. Helv Paediatr Acta 1974;29:61-72.","journal-title":"Am J Med Genet"},{"key":"ref_31","first-page":"263","article-title":"X-linked recessively inherited nonspecific mental retardation. Report of a large family","volume":"20","author":"Deroover, J.; Fryns, J.P.; Parloir, C.; Van den Berghe, H.","year":"1977","unstructured":"Turner G, Opitz J M. Editorial comment: X-linked mental retardation. Am J Med Genet 1980;7:401-5.","journal-title":"Ann Genet (Paris)"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1007\/BF00278880","article-title":"Constitutional chromosomal breakage","volume":"34","author":"Giraud, F.; Ayme, S.; Mattei, J.F.; Mattei, M.G.","year":"1976","unstructured":"Deroover J, Fryns JP, Parloir C, Van den Berghe H. X-linked recessively inherited nonspecific mental retardation. Report of a large family. 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Behavioural correlates of the fragile X syndrome. Twelfth annual meeting. Behavioutr Genetics Assoc, Fort Collins, USA, 1982.","journal-title":"Birth Defects"},{"key":"ref_36","article-title":"Association of fragile X syndrome with autism","volume":"100","author":"Brown, W.T.; Friedman, E.; Jenkins, E.C.","year":"1982","unstructured":"Lehrke RG. X-linked mental retardation and verbal disability. Birth Defects 1974;12:1-100.","journal-title":"Lancet"},{"key":"ref_37","first-page":"203","article-title":"X-linked mental retardation and fragile (Xq27) site","volume":"23","author":"Fryns, J.P.; Van den Berghe, H.","year":"1983","unstructured":"Brown WT, Friedman E, Jenkins EC, et al. Association of fragile X syndrome with autism. Lancet 1982;i:100.","journal-title":"Clin Genet"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1016\/S0022-3476(80)80552-X","article-title":"X-linked mental retardation, macro-orchidism, and the Xq27 fragile site","volume":"96","author":"Turner, G.; Daniel, A.; Frost, M.","year":"1980","unstructured":"Fryns JP, Van den Berghe H. X-linked mental retardation and fragile (Xq27) site. Clin Genet 1983;23:203-7.","journal-title":"J Pediatr"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1002\/ajmg.1320120211","article-title":"Marker X syndrome in an oriental family with probable transmission by a normal male","volume":"12","author":"Rhoads, F.A.; Oglesby, A.C.; Mayer, M.; Jacobs, P.A.","year":"1982","unstructured":"Turner G, Daniel A, Frost M. X-linked mental retardation, macro-orchidism, and the Xq27 fragile site. 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