Human Genetics

, Volume 92, Issue 5, pp 441–445 | Cite as

Molecular and cytogenetic analyses of autism in Taiwan

  • Shuan-Yow Li
  • Yung-Cheng Joseph Chen
  • Te-Jen Lai
  • Chuan-Yu Hsu
  • Yi-Chun Wang
Original Investigations


Karyotypic and DNA analyses were both performed on 104 autistic children referred from Taichung Autism Education Academy and Tainan Autism Association in Taiwan. The frequency of fragile sites of the autistic patients did not differ significantly from that of the normal individuals. Of the 12 autistic children with chromosomal abnormalities, 8 had the fragile X, 2 had Down syndrome, and the remaining had other aneuploid constitutions. The results of this study illustrate the contribution of chromosomal abnormalities or variants to the pathogenesis of infantile autism.


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  1. American Psychiatric Association (1980) Diagnostic and statistical manual of mental disorders, 3rd edn. Washington, DCGoogle Scholar
  2. American Psychiatric Association (1987) Diagnostic and statistical manual of mental disorders, 4th edn. Washington, DCGoogle Scholar
  3. Blomquist HK, Gustavson KH, Holmgren G, Nordenson I, Pallson-Strae U (1983) Fragile X syndrome in mildly mentally retarded children in a northern Swedish county: a prevalence study. Clin Genet 24:393–398Google Scholar
  4. Blomquist HK, Bohman M, Edvinsson SO, Gillberg C, Gustavson KH, Holmgren G, Wahlstrom J (1985) Frequency of the fragile X syndrome in infantile autism: a Swedish multicenter study. Clin Genet 27:113–117Google Scholar
  5. Brown WT, Friedman E, Jenkins EC, Brooks J, Wisniewski K, Raguthu S, Frech JH (1982a) Association of fragile X with autism. Lancet I:100Google Scholar
  6. Brown WT, Jenkins EC, Friedman E, Brooks J, Wisniewski K, Raguthu S, French JH (1982b) Autism is associated with the fragile X syndrome. J Autism Dev Disord 12:303–307Google Scholar
  7. Brown WT, Jenkins EC, Cohen IL, Fisch GS, Wolf-Schein EG, Gross A, Waterhouse L, Fein D, Mason-Brothers A, Ritvo E, Rutterberg BA, Bentldy W, Castells S (1986) Fragile X and autism: a multicenter survey. Am J Med Genet 23:341–352Google Scholar
  8. Cohen IL, Sudhalter V, Pfadt A, Jenkins EC, Brown WT, Vietze PM (1991) Why are autism and the fragile-X syndrome associated? Conceptual and methodological issues. Am J Hum Genet 48:195–202Google Scholar
  9. Fisch GS, Cohen IL, Wolf EG, Brown WT, Jenkins EC, Gross A (1986) Autism and the fragile X syndrome. Am J Psychiatry 143:71–73Google Scholar
  10. Gillberg C, Wahlstrom J (1985) Chromosome abnormalities in infantile autism and other children psychoses: a population study of 66 cases. Dev Med Child Neurol 27:293–304Google Scholar
  11. Gillberg C, Winnergard I, Wahlstrom J (1984) The sex chromosome — one key to autism? An XYY case of infantile autism. Appl Res Ment Retard 5:353–360Google Scholar
  12. Hagerman RJ, Chudley AE, Knoll JH, Jackson AW, Kemper M, Ahmad R (1986) Autism in fragile X female. Am J Med Genet 23:375–380Google Scholar
  13. Hook EB, Hamerton JL (1977) The frequency of chromosome abnormalities detected in consecutive newborn studies: difference between studies: results by sex and severity of phenotypic involvement. In: Hook EB, Porter IH (eds) Population cytogenetics: studies in humans. Academic Press, New York London, pp 63–79Google Scholar
  14. John SWM, Weitzer G, Rozen R, Scriver CR (1991) A rapid procedure for extracting genomic DNA from leukocytes. Nucleic Acids Res 19:408Google Scholar
  15. Jorgensen OS, Brondum Nielsen K, Isager T, Mouridsen SE (1984) Fragile X-chromosome among child psychiatric patients with disturbances of language and social relationships. Acta Psychiatr Scand 70:510–514Google Scholar
  16. Knobloch H, Pasamanick B (1975) Some etiologic and prognostic factors in early infantile autism and psychosis. Pediatrics 55:182–191Google Scholar
  17. Levitas A, Hagerman RJ, Braden M, Rimland B, McBogg P (1983) Autism and the fragile X syndrome. J Dev Behav Pediatr 4:151–158Google Scholar
  18. Li SY, Tsai CC, Chou MY, Lin JK (1988) A cytogenetic study of mentally retarded school children in Taiwan with special reference to the fragile X chromosome. Hum Genet 79:292–296Google Scholar
  19. McLean DA, Faed MJW (1990) Improved fragile site detection with trimethoprim. Hum Genet 85:241–243Google Scholar
  20. Meryash DL, Szymanski LS, Gerald PS (1982) Infantile autism associated with the fragile X syndrome. J Autism Dev Disord 12:295–301Google Scholar
  21. Oberlé I, Rousslau F, Heitz D, Kretz C, Devys D, Hanauer A, Boue J, Bertheas MF, Mandel JL (1991) Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 252:1097–1102Google Scholar
  22. Partington MW (1984) The fragile X syndrome. II. Preliminary data on growth and development in males. Am J Med Genet 17:175–194Google Scholar
  23. Sherman SL, Jacobs PA, Morton NE, Froster-Iskenius U, Howard-Peebles PN, Nielsen KB, Partington MW, Sutherland GR, Turner G, Watson M (1985) Further segregation analysis of the fragile X syndrome with special reference of transmitting males. Hum Genet 69:289–299Google Scholar
  24. Siva Sanker DV (1970) Chromosome breakage in infantile autism. Dev Med Child Neurol 12:572–575Google Scholar
  25. Steel RGD, Torrie J (1980) Principles and procedures of statistics. McGraw-Hill, New York, pp 540–543Google Scholar
  26. Vincent A, Gendrel D, Chaussain JL (1981) Les anomalies de structure du chromosome Y: étude d'une serie de treize cas. Ann Pediatr (Paris) 28:205–208Google Scholar
  27. Wakabayashi S (1979) A case of infantile autism associated with Down's syndrome. J Autism Dev Disord 9:31–36Google Scholar
  28. Warburton D (1991) De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal dignosis: clinical significance and distribution of breakpoints. Am J Hum Genet 49:995–1013Google Scholar
  29. Wisniewski KE, French JH, Fernando S, Brown WT, Jenkins EC, Friedman E, Hill AL, Miezejeski CM (1985) Fragile X syndrome: associated neurological abnormalities and developmental disabilities. Ann Neurol 18:665–669Google Scholar

Copyright information

© Springer-Verlag 1993

Authors and Affiliations

  • Shuan-Yow Li
    • 1
  • Yung-Cheng Joseph Chen
    • 2
  • Te-Jen Lai
    • 2
  • Chuan-Yu Hsu
    • 1
  • Yi-Chun Wang
    • 1
  1. 1.Cytogenetics LaboratoryChung Shan Medical and Dental CollegeTaichungTaiwan, Republic of China
  2. 2.Department of Psychiatry, Medical CollegeNational Cheng-Kung UniversityTainanTaiwan, Republic of China

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