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Læknablaðið - 15.12.1990, Blaðsíða 16

Læknablaðið - 15.12.1990, Blaðsíða 16
492 LÆKNABLAÐIÐ 23. Hockey A, Crowhurst J. Early manifestations of the Martin-Bell syndrome based on a series of both sexes from infancy. Am J Med Genet 1988; 30: 61-71. 24. Tumer G, Till R. Daniel A. Marker-X chromosomes, mental retardation and macroorchidism. N Engl J Med 1978; 299: 1472. 25. Sutherland GR. Heritable fragile sites on human chromosomes. II. Distribution, phenotypic effects and cytogenetics. Am J Hum Genet 1979; 31: 136-48. 26. McKusick VA. Mendelian inheritance in man. Catalogs of autosomal dominant, autosomal recessive and X-linked phenotypes. 7th ed. London: The Johns Hopkins University Press, 1986. 27. Blomquist HK, Gustavson KH, Holmgren G, et al. Fragile X syndrome in mildly retarded children in a northem Swedish county. A prevalence study. Clin Genet 1983; 24: 393-8. 28. Blomquist HK, Gustavson KH, Holmgren G, et al. Fragile site X chromosomes and X-linked mental retardation in severely retarded boys in a northem Swedish county. A prevalence study. Clin Genet 1982; 21: 209-14. 29. Carpenter NJ, Leichtman LG, Say B. Fragile X- linked mental retardation. A survey of 65 patients with mental retardation of unknown origin. Am J Dis Child 1982; 136: 392-8. 30. Webb TP, Bundey S, Thake A, Todd J. The frequency of the fragile X chromosome among schoolchildren in Coventry. J Med Genet 1986; 23: 396-9. 31. Jacky PB, Dill FJ. Expression in fibroblast culture of the satellited-X chromosome associated with familial sex-linked mental retardation. Hum Genet 1980; 53: 267-9. 32. Jenkins EC, Brown WT, Duncan CJ, et al. Feasibility of fragile X chromosome prenatal diagnosis demonstrated. Lancel 1981; 2: 1292. 33. Webb T, Butler D, Insley J, et al. Prenatal diagnosis of Martin-Bell syndrome associated with fragile site at Xq27-28. Lancet 1981; 2: 1423. 34. Shapiro LR, Wilmot PL, Brenholz P, et al. Prenatal diagnosis of fragile X chromosome. Lancet 1982; 1: 99-100. 35. Tommerup N, Söndergaard F, Tönnesen T, et al. First trimester prenatal diagnosis of a male fetus with fragile X. Lancet 1985; 1: 870. 36. Jenkins EC, Brown WT, Krawczun MS, et al. Recent experience in prenatal fra(X) detection. Am J Med Genet 1988; 30: 329-36. 37. Shapiro LR, Wilmot PL. Murphy PD. Breg WR. Experience with multiple approaches to the prenatal diagnosis of the fragile X syndrome: amniotic fluid, chorionic villi, fetal blood and molecular methods. Am J Med Genet 1988; 30: 347-54. 38. Bridge PJ, Lillicrap DP. Molecular diagnosis of the fragile X [fra(X)] syndrome: Calculation of risks based on flanking DNA markers in small phase- unknown falilies. Am J Med Genet 1989; 33: 92-9. 39. Fryns JP. The female and the fragile X. A study of 144 obligate female carriers. Am J Med Genet 1986; 23: 157-69. 40. Borghgraef M, Fryns JP, van den Berghe H. The female and the fragile X syndrome: Data on clinical and psychological findings in 7 fra(X) carriers. Clin Genet 1990; 37: 341-6. 41. Loesch DZ, Hay DA, Sutherland GR, et al. Phenotypic variation in male-transmitted fragile-X: Genetic inferences. Am J Med Genet 1987; 27: 401- 17. 42. Voelckel MA, Philip N, Piquet C, et al. Study of a family with a fragile site of the X chromosome at Xq27-28 without mental retardation. Hum Genet 1989; 81: 353-7. 43. Sutherland GR, Mulley JC. Diagnostic molecular genetics of the fragile X. Clin Genet 1990; 37; 2-11.

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