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A case of autism associated with partial tetrasomy 15

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Abstract

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.

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References

  • 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 

  • 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 

  • 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.

  • 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 

  • 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 

  • Bolton, P., Murphy, M., Sim, L., & Rutter, M. (1993). Obstetric complications in autism.Psychiatric Genetics, 3, 174.

    Google Scholar 

  • 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 

  • Bolton, P., & Rutter, M. (1990). Genetic influences in autism.International Review of Psychiatry, 2, 67–80.

    Google Scholar 

  • Centerall, W., & Morris, J. (1975). Partial D trisomy 15.Human Heredity, 25, 442–452.

    Google Scholar 

  • 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 

  • 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 

  • 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 

  • 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 

  • 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 

  • 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 

  • 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 

  • 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 

  • Parker, C. E., & Alfi, O. S. (1972). Partial trisomy of chromosome 15.Lancet, 1, 1073.

    Google Scholar 

  • 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 

  • 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 

  • 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 

  • 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 

  • 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 

  • 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 

  • Tsuang, M., Lyons, M., & Faraone, S. (1990). Heterogeneity of schizophrenia: conceptual models and analytic strategies.British Journal of Psychiatry, 156, 17–26.

    Google Scholar 

  • 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 

  • Zapella, M. (1992). Hypomelanosis of Ito is frequently associated with autism.European Child and Adolescent Psychiatry, 1, 170–177.

    Google Scholar 

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Hotopf, M., Bolton, P. A case of autism associated with partial tetrasomy 15. J Autism Dev Disord 25, 41–49 (1995). https://doi.org/10.1007/BF02178166

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