Journal of Autism and Developmental Disorders

, Volume 25, Issue 1, pp 41–49 | Cite as

A case of autism associated with partial tetrasomy 15

  • Matthew Hotopf
  • Patrick Bolton


We report a male individual with partial tetrasomy 15 and severe mental retardation, who met ICD-10 criteria for autism. The relevance of this to the etiology of autism is discussed.


Mental Retardation School Psychology Male Individual Severe Mental Retardation Partial Tetrasomy 


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  1. Åkefeldt, A., & Gillberg, C. (1991). Hypomelanosis of Ito in three cases with autism and autism-like conditions.Developmental Medicine and Child Neurology, 33, 737–743.Google Scholar
  2. Bailey, A., Bolton, P., Butler, L., Le Couteur, A., Murphy, M., Scott, S., Webb, T., & Rutter, M. (1993). Prevalence of fragile X anomaly amongst autistic twins and singletons.Journal of Child Psychology and Psychiatry, 34, 672–688.Google Scholar
  3. Bailey, A., Le Couteur, A., Gottesman, I., Bolton, P., Simonoff, E., Yuzda, E., & Rutter, M. (in press). Autism as a strongly genetic disorder: evidence from a British twin study.Psychological Medicine.Google Scholar
  4. Bolton, P., & Holland, A. (1994). Chromosomal abnormalities. In M. Rutter, E. Taylor, & L. Hersov (Eds.),Child and adolescent psychiatry: Modern approaches. London: Blackwell.Google Scholar
  5. Bolton, P., Macdonald, H., Pickles, A., Rios, P., Goode, S., Crowson, M., Bailey, A., & Rutter, M. (1994). A case control family history study of autism.Journal of Child Psychology and Psychiatry.35, 877–900.Google Scholar
  6. Bolton, P., Murphy, M., Sim, L., & Rutter, M. (1993). Obstetric complications in autism.Psychiatric Genetics, 3, 174.Google Scholar
  7. Bolton, P., Pickles, A., Butler, L., Summers, D., Webb, T., Lord, C., Le Couteur, A., Bailey, A., & Rutter, M. (1992). Fragile X in families multiplex for autism and related phenotypes: prevalence and criteria for cytogenetic diagnosis.Psychiatric Genetics, 2, 277–300.Google Scholar
  8. Bolton, P., & Rutter, M. (1990). Genetic influences in autism.International Review of Psychiatry, 2, 67–80.Google Scholar
  9. Centerall, W., & Morris, J. (1975). Partial D trisomy 15.Human Heredity, 25, 442–452.Google Scholar
  10. Clayton-Smith, J., Webb, T., Cheng, X. J., Pembry, M. E., & Malcolm, S. (1993). Duplication of chromosome 15 in the region 15q11–13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome.Journal of Medical Genetics, 30, 529–531.Google Scholar
  11. Connor, J. M., & Gilmore, D. H. (1984). An analysis of the parental age effect for invdup(15).Journal of Medical Genetics, 21, 213–214.Google Scholar
  12. Fombonne, E. (1992). Diagnostic assessment in a sample of autistic and developmentally impaired adolescents.Journal of Autism and Developmental Disorders, 22, 563–581.Google Scholar
  13. Gillberg, C., Steffenburg, S., Wahlström, J., Gillberg, I., Sjösted, A., Martinsson, T., Liedgren, S., & Eeg-Olofsson, O. (1991). Autism associated with marker chromosome.Journal of the American Academy of Child and Adolescent Psychiatry, 30, 489–494.Google Scholar
  14. Gilmore, D. H., Boyd, E., McClure, J. P., Batstone, P., & Connor, J. M. (1984). Inv Dup (15) with mental retardation but few dysmorphic features.Journal of Medical Genetics, 21, 221–223.Google Scholar
  15. Le Couteur, A., Rutter, M., Lord, C., Rios, P., Robertson, S., Holgafer, M., & McLennan, J. (1989). Autism diagnostic interview: a standardized investigator based instrument.Journal of Autism and Developmental Disorders, 19, 363–387.Google Scholar
  16. Maraschio, P., Cuoco, G., Gimelli, G., Zuffardi, O., & Tiepolo, L. (1988). Origin and clinical significance of inv dup(15). In D. Art (Ed.),The cytogenetics of mammalian autosomal rearrangements (pp. 615–634). New York: Liss.Google Scholar
  17. McKusick, V., & Amberger, J. (1993). The morbid anatomy of the human genome: chromosomal location of mutations causing disease.Journal of Medical Genetics, 30, 1–26.Google Scholar
  18. Parker, C. E., & Alfi, O. S. (1972). Partial trisomy of chromosome 15.Lancet, 1, 1073.Google Scholar
  19. Piven, J., Gayle, J., Landa, R., Wzorek, M., & Folstein, S. (1991). The prevalence of Fragile X in a sample of autistic individuals diagnosed using a standardized interview.Journal of American Academy of Child and Adolescent Psychiatry, 30, 825–830.Google Scholar
  20. Robinson, W. P., Binkert, F., Giné, R., Vazquez, C., Müller, W., Rosenkranz, W., & Schinzel, A. (1993a). Clinical and molecular analysis of five inv dup(15) patients.European Journal of Human Genetics, 1, 37–50.Google Scholar
  21. Robinson, W. P., Wagstaff, J., Bernasconi, F., Baccichetti, C., Artifoni, L., Franzoni, E., Suslak, L., Shih, L-Y., Aviv, H., & Schinzel, A. (1993b). Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.Journal of Medical Genetics, 30, 756–760.Google Scholar
  22. Rutter, M., Bailey, A., Bolton, P., & Le Couteur, A. (1994). Medical disorders in autism: Myth and substance.Journal of Child Psychology and Psychiatry, 35, 311–322.Google Scholar
  23. Schinzel, A. (1981). Particular behavioral symptomatology in patients with rare autosomal chromosome aberrations. In W. Schmid & J. Nielsen (Eds.),Human behaviour and genetics. Amsterdam: Elsevier, North Holland.Google Scholar
  24. Tsai, L. (1987). Pre-, peri-, neo-natal factors in autism. In E. Schopler & G. B. Mesibov (Eds.),Neurobiological issues in autism (pp. 180–189). New York: Plenum Press.Google Scholar
  25. Tsuang, M., Lyons, M., & Faraone, S. (1990). Heterogeneity of schizophrenia: conceptual models and analytic strategies.British Journal of Psychiatry, 156, 17–26.Google Scholar
  26. Wisniewski, L., Hassold, T., Heffelfinger, J., & Higgins, J. V. (1979). Cytogenetic and clinical studies in 5 cases of Inv Dup (15).Human Genetics, 50, 259–270.Google Scholar
  27. Zapella, M. (1992). Hypomelanosis of Ito is frequently associated with autism.European Child and Adolescent Psychiatry, 1, 170–177.Google Scholar

Copyright information

© Plenum Publishing Corporation 1995

Authors and Affiliations

  • Matthew Hotopf
    • 1
  • Patrick Bolton
    • 2
  1. 1.Maudsley HospitalDenmark Hill, London
  2. 2.Developmental Psychiatry SectionCambridge UniversityCambridgeUK

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