Screening and diagnosis for the fragile X syndrome among the mentally retarded: An epidemiological and psychological survey

American Journal of Human Genetics

Volumn 61, Issue 3, 1997, Pages 660-667

  De Vries, Bert B A ^a,b   Van Den Ouweland, Ans M W ^a   Mohkamsing, Serieta ^a   Duivenvoorden, Hugo J ^a   Mol, Esther ^a   Gelsema, Kirsten ^a   Van Rijn, Monique ^a   Halley, Dicky J J ^a   Sandkuijl, Lodewijk A ^a   Oostra, Ben A ^a   Tibben, Aad ^a   Niermeijer, Martinus F ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ADOLESCENT; ADULT; ARTICLE; CHILD; FEMALE; FRAGILE X SYNDROME; GENETIC SCREENING; HEALTH SURVEY; HUMAN; MAJOR CLINICAL STUDY; MALE; MASS SCREENING; MENTAL DEFICIENCY; PREVALENCE; PRIORITY JOURNAL; X CHROMOSOME LINKED DISORDER;

EID: 16944362509     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/515496     Document Type: Article

References (35)

1. American College of Medical Genetics (1994) Fragile X syndrome: diagnostic and carrier testing. Working group of the Genetic Screening Subcommittee of the Clinical Practice Committee. Am J Med Genet 53:380-381
2. Bonthron D, Strain L (1993) Population screening for fragile-X syndrome. Lancet 341:769-770
3. Bundey S, Norman E (1993) Population screening for fragile-X syndrome. Lancet 341:770
4. Craft N (1995) Study supports screening for the fragile X syndrome. BMJ 310:148
5. Fryns J-P (1989) X-linked mental retardation and the fragile X syndrome: a clinical approach. In: Davies KE (ed) The fragile X syndrome. Oxford University Press, Oxford, pp 1-21
6. Fu YH, Kuhl DPA, Pizzutti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJMH, et al (1991) Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 67:1047-1058
7. Hagerman RJ (1996) Physical and behavioural phenotype. In: Hagerman RJ, Silverman AC (eds) Fragile X syndrome: diagnosis, treatment and research. Johns Hopkins University Press, Baltimore, pp 3-87
8. Hagerman RJ, Wilson P, Staley LW, Lang KA, Fan T, Uhlhorn C, Jewell-Smart S, et al (1994) Evaluation of school children at high risk for fragile X syndrome utilizing buccal cell FMR-1 testing. Am J Med Genet 51:474-481
9. Howard-Peebles PN, Maddalena A, Black SH, Schulman JD (1993) Population screening for fragile-X syndrome. Lancet 341:770
10. Jacobs PA, Bullman H, Macpherson J, Youings S, Rooney V, Watson A, Dennis NR (1993) Population studies of the fragile X: a molecular approach. J Med Genet 30:454-459
11. Laing S, Partington M, Robinson H, Turner G (1991) Clinical screening score for the fragile X (Martin-Bell) syndrome. Am J Med Genet 38:256-259
12. Laxova R (1995) Fragile X screening: what is the real issue? Am J Med Genet 57:508-509
13. Maas JMAG, Serail S, Janssen AJM (1988) Frequentie-onderzoek geestelijk gehandicapten 1986 (summary in English). IVA, Instituut voor sociaal-wetenschappelijk onderzoek van de Katholieke Universiteit Brabant, Brabant, the Netherlands
14. McKusick VA (1995) Mendelian inheritance in man, 14th ed. Johns Hopkins University Press, Baltimore
15. Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from nucleated cells. Nucleic Acids Res 16:1215
16. Murray A, Youings S, Dennis N, Latsky L, Linehan P, McKechnie, Macpherson J, et al (1996) Population screening at FRAXA and FRAXE loci: molecular analyses of boys with learning difficulties and their mothers. Hum Mol Genet 5:727-735
17. Oberlé J, Rousseau F, Heitz D, Kretz C, Devys D, Hanauer A, Boue J, et al (1991) Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 252:1097-1102
18. Oostra BA, Jacky PB, Brown WT, Rousseau F (1993) Guidelines for the diagnosis of fragile X syndrome. J Med Genet 30:410-413
19. Palomaki GE, Haddow JE (1993) Is it time for population-based prenatal screening for fragile-X? Lancet 341:373-374
20. Pieretti M, Zhang FP, Fu YH, Warren ST, Oostra BA, Caskey CT, Nelson DL (1991) Absence of expression of the FMR-1 gene in the fragile X syndrome. Cell 66:817-822
21. Rousseau F, Rouillard P, Morel M-L, Khandjian EW, Morgan K (1995) Prevalence of carriers of premutation-size alleles of the FMR1 gene - implications for population genetics of the fragile X syndrome. Am J Hum Genet 57:1006-1018
22. Slaney SF, Wilkie AOM, Hirst MC, Charlton R, McKinley M, Pointon J, Christodoulou Z, et al (1995) DNA testing for fragile X syndrome in schools for learning difficulties. Arch Dis Child 72:33-37
23. Statistical yearbook of the Netherlands 1995 (1995) Statistics Netherlands, Sdu, The Hague
24. Steele J, Stratford B (1995) The United Kingdom population with Down syndrome: present and future projections. Am J Ment Retard 99:664-682
25. Sutcliffe JS, Nelson DL, Zhang F, Pieretti M, Caskey CT, Saxe D, Warren ST, et al (1992) DNA methylation represses FMR-1 transcription in fragile X syndrome. Hum Mol Genet 1:397-400
26. Sutherland GR, Hecht F (1985) Fragile sites on human chromosomes. Oxford University Press, New York
27. Turner G, Robinson H, Laing S, Purvis-Smith S (1986) Preventive screening for the fragile X syndrome. N Engl J Med 315:607-609
28. Turner G, Robinson H, Laing S, van den Berk M, Colley A, Goddard A, Sherman S, et al (1992) Population screening for fragile X. Lancet 339:1210-1213
29. Turner G, Webb T, Wake S, Robinson H (1996) Prevalence of fragile X syndrome. Am J Med Genet 64:196-197
30. van den Ouweland AMW, De Vries BBA, Bakker PLG, Deelen WH, de Graaff E, van Hemel JO, Oostra BA, et al (1994) DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for reversal of mutation in the FMR-1 gene. Am J Med Genet 51:482-485
31. Verheij C, Bakker CE, de Graaff E, Keulemans J, Willemsen R, Verkerk AJMH, Galjaard H, et al (1993) Characterization and localisation of the FMR-1 gene product associated with fragile X syndrome. Nature 363:722-724
32. Verkerk AJMH, Pieretti M, Sutcliffe JS, Fu Y, Kuhl DPA, Pizzuti A, Reiner O, et al (1991) Identification of a gene (FMR-1) containing a CGG repeat coinicident with a fragile X breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65:905-914
33. Webb TP, Bundey SE, Thake AI, Todd J (1986) Population incidence and segregation ratios in the Martin-Bell syndrome. Am J Med Genet 23:573-580
34. Willemsen R, Mohkamsing S, De Vries B, Devys D, van den Ouweland A, Mandel JL, Galjaard H, et al (1995) Rapid antibody test for fragile X syndrome. Lancet 345:1147-1148
35. Yu S, Pritchard M, Kremer E, Lynch M, Nancarrow J, Baker E, Holman K, et al (1991) Fragile X genotype characterized by an unstable region of DNA. Science 252:1179-1181