{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:47:40Z","timestamp":1760730460356,"version":"build-2065373602"},"reference-count":15,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1988,6]]},"abstract":"<jats:p>Clinical findings are presented on 113 fragile X female heterozygotes from 44 families, based on physical examination, behavioural assessment, and reproductive history. In 85% of a subsample of 92 adult females non-verbal IQ score derived from the Block Design test was 85 or less. Verbal ability deficits were much less common. Typical facial characteristics, irregular teeth, and hypermobility of finger joints occurred in approximately 40% of adult females, but facial abnormalities were less common in children. Some physical anomalies and the level of intellectual impairment were, in adult carriers, associated with the presence of fragile X sites. The commoner physical anomalies or typical facial characteristics and intellectual abilities differed significantly between the known female heterozygotes and their 40 presumed normal relatives. Frequency of miscarriages was increased in fragile X females; in spite of this, a moderate increase in the number of children has been encountered in female carriers with borderline intellectual impairment. This important problem has genetical implications and needs further investigation. The importance is emphasised of a more detailed clinical examination of the females at risk in fragile X families.<\/jats:p>","DOI":"10.1136\/jmg.25.6.407","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"407-414","source":"Crossref","is-referenced-by-count":50,"title":["Clinical features and reproductive patterns in fragile X female heterozygotes."],"prefix":"10.1136","volume":"25","author":[{"given":"D Z","family":"Loesch","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D A","family":"Hay","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1988,6,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1002\/ajmg.1320230110","article-title":"The female and the fragile X. 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Anthropometry in MartinBell syndrome. Am J Med Genet (in press). Sattler JM. Assessment of children's intelligence and special abilities. 2nd ed. Philadelphia: Saunders, 1982.","edition":"2nd ed","journal-title":"Am J Med Genet; Assessment of children's intelligence and special abilities"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1002\/ajmg.1320270219","article-title":"Phenotypic variation in male-transmitted fragile X: genetic inferences","volume":"27","author":"Loesch, D.Z.; Hay, D.A.; Sutherland, G.R.; Halliday, J.; Judge, C.; Webb, G.C.","year":"1987","unstructured":"Loesch DZ, Hay DA, Sutherland GR, Halliday J, Judge C, Webb GC. Phenotypic variation in male-transmitted fragile X: genetic inferences. 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Marker (X) linked mental retardation. In: Harris H, Hirschhorn K, eds. Advances in human genetics. New York: Plenum Press, 1983:82-112."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1016\/S0022-3476(64)80188-8","article-title":"Congenital anomalies in the newborn infant, including minor malformations","volume":"64","author":"Marden, P.M.; Smith, D.W.; McDonald, M.J.","year":"1964","unstructured":"Marden PM, Smith DW, McDonald MJ. Congenital anomalies in the newborn infant, including minor malformations. J Pediatr 1964;64:357-75.","journal-title":"J Pediatr"},{"key":"ref_11","article-title":"Minor malformations in the neonate","author":"Mehes, K.","year":"1983","unstructured":"Mehes K. Minor malformations in the neonate. Budapest: Ahademiai Kiado, 1983."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1007\/BF00291644","article-title":"Further segregation analysis of the fragile X syndrome with special reference to transmitting males","volume":"69","author":"Sherman, S.L.; Jacobs, P.A.; Morton, N.E.","year":"1985","unstructured":"Sherman SL, Jacobs PA, Morton NE, et al. Further segregation analysis of the fragile X syndrome with special reference to transmitting males. Hum Genet 1985;69:289-99.","journal-title":"Hum Genet"},{"key":"ref_13","first-page":"327","article-title":"Applied multivariate analysis. Chap 12","volume":"48","author":"Overall, J.E.; Klett, C.J.","year":"1972","unstructured":"Overall JE, Klett CJ. Applied multivariate analysis. Chap 12. New York: McGraw Hill, 1972. '5 Vogel F. Mutation and selection in the marker (X) syndrome. A hypothesis. Ann Hum Genet 1984;48:327-32.","journal-title":"Ann Hum Genet; 5 Vogel F. Mutation and selection in the marker (X) syndrome. A hypothesis"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1002\/ajmg.1320230103","article-title":"Conference report. Second international workshop on the fragile X and on X-linked mental retardation","volume":"23","author":"Turner, G.; Opitz, J.M.; Brown, T.W.","year":"1986","unstructured":"Turner G, Opitz JM, Brown TW et al. Conference report. Second international workshop on the fragile X and on X-linked mental retardation. Am J Med Genet 1986;23:11-68.","journal-title":"Am J Med Genet"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1111\/j.1469-1809.1984.tb00830.x","article-title":"The marker (X) syndrome: a cytogenetic and genetic analysis","volume":"48","author":"Sherman, S.L.; Morton, N.E.; Jacobs, P.A.; Turner, G.","year":"1984","unstructured":"Sherman SL, Morton NE, Jacobs PA, Turner G. The marker (X) syndrome: a cytogenetic and genetic analysis. 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