Advertisement

European Child & Adolescent Psychiatry

, Volume 2, Issue 4, pp 226–230 | Cite as

Autism associated with tetrasomy 15: A further report

  • Mohammad Ghaziuddin
  • Susan Sheldon
  • Sanjiv Venkataraman
  • Luke Tsai
  • Neera Ghaziuddin
Article

Abstract

Association of autism with tetrasomy of chromosome 15 has recently been described in six males. In this report, we describe the occurrence of autism in a girl with tetrasomy of chromosome 15. The patient showed hyperactivity, hand-flapping, short-stature, eye abnormalities, and hypotonia, which have been reported in males with tetrasomy of chromosome 15. This suggests that autism may be associated in both sexes with a distinct syndrome characterized by tetrasomy of chromosome 15, mental retardation and characteristic physical features.

Keywords

Public Health Physical Feature Mental Retardation Distinct Syndrome Petite Taille 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Résumé

L'association d'autisme avec une tétrasomie du chromosome 15 a été décrite récemment chez six garçons. Dans cet article, nous décrivons la survenue d'un autisme chez une fille avec une tétrasomie du chromosome 15. La patiente présentait une hyperactivité, un battement des mains, une petite taille, des anormalités des yeux et une hypotonie qui ont été rapportées chez des garçons avec tétrasomie du chromosome 15. Ceci suggère que l'autisme peut être associé dans les deux sexes avec un syndrome distinct caractérisé par une tétrasomie du chromosome 15, un retard mental et des traits physiques caractéristiques.

Zusammenfassung

Kürzlich wurde eine Assoziation einer Tetrasomie des Chromosoms 15 mit Autismus bei 6 männlichen Individuen beschrieben. In dem vorliegenden Fallbericht wird das Vorkommen eines Autismus bei einem Mädchen mit einer Tetrasomie des Chromosoms 15 dargestellt. Die Patientin zeigte Hyperaktivität, Handstereotypien, ophthalmologische Auffälligkeiten und Hypotonie. Diese Auffälligkeiten sind auch bei den männlichen Individuen mit einer Tetrasomie 15 beschrieben worden. Diese Befunde legen nahe, daß bei beiden Geschlechtern Autismus mit einem eigenständigen Syndrom im Falle des Vorliegens einer Tetrasomie 15 einhergeht, dessen wesentliche Merkmale geistige Behinderung und charakteristische Auffälligkeiten sind.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. American Psychiatric Association (1987).Diagnostic and Statistical Manual of Mental Disorders, Third edition, Revised. Washington, DC: APA.Google Scholar
  2. Baraitser, M. (1977). Genetics of Moebius Syndrome.Journal of Medical Genetics, 14, 415–417.PubMedGoogle Scholar
  3. Brown, W.T., Jenkins, E.C., Cohen, I.L., Fisch, G.S., Wolf-Schein, E.G., Gross, A., Waterhouse, L., Fein, D., Mason-Brothers, A., Ritvo, E., Ruttenburg, B.A., Bently, W. & Castells, S. (1986). Fragile-X and autism: A multicenter survey.American Journal of Medical Genetics, 23, 341–352.CrossRefPubMedGoogle Scholar
  4. Buckton, K.E., Spowart, G., Newton, M.S. & Evans, H.J. (1985). Forty-four probands with an additional “marker” chromsome.Human Genetics, 69, 353–370.CrossRefPubMedGoogle Scholar
  5. Gillberg, C., Steffenburg, S., Wahlstrom, J., Gillberg, I.C., Sjostedt, 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.PubMedGoogle Scholar
  6. Hansen, A., Brask, B.H., Nielsen, J., Rasmussen, K. & Sillesen, I. (1977). A case report of an autistic girl with an extra bisatellited marker chromosome.Journal of Autism and Childhood Schizophrenia, 7, 263–267.CrossRefPubMedGoogle Scholar
  7. Krug, D.A., Arick, J. & Almond, P. (1980). Behavior checklist for identifying severely handicapped individuals with high levels of autistic behavior.Journal of Child Psychology and Psychiatry, 21, 221–229.PubMedGoogle Scholar
  8. Maraschio, P., Zuffardi, O., Bernardi, F., Bozzola, M., De Paoli, C., Fonatsch, C., Flatz, S.D., Ghersini, L., Gimelli, G., Loi, M., Lorini, R., Peretti, D., Poloni, L., Tonetti, D., Vanni, R. & Zamboni, G. (1981). Preferential maternal derivation in inv dup (15): analysis of eight new cases.Human Genetics, 57, 345–350.CrossRefPubMedGoogle Scholar
  9. Mariner, R., Jackson, A.W., Levitas, A., Hagerman, R.J., Braden, M., McBogg, P.M., Smith, A.C.M. & Berry, R. (1986). Autism, mental retardation and chromosomal abnormalities.Journal of Autism and Developmental Disorders, 16, 425–440.CrossRefPubMedGoogle Scholar
  10. Reiss, A.L., Feinstein, C. & Rosenbaum, K.N. (1986). Autism and Genetic Disorders.Schizophrenia Bulletin, 12, 724–738.PubMedGoogle Scholar
  11. Saliba, J.R. & Griffiths, M. (1990). Autism of the Asperger type associated with an autosomal fragile site.Journal of Autism and Developmental Disorders, 20, 569–575.PubMedGoogle Scholar
  12. Schweizer, D., Ambrose, P. & Anderle, M. (1978). Modification of DAPI banding on human chromosomes by prestaining with a DNA-binding oligopeptide antibiotic, Distamycin A.Experimental Cellular Research, 111, 327–332.CrossRefGoogle Scholar
  13. Schopler, E., Reichler, R.J. & Renner, B.R. (1985).Childhood Autism Rating Scale (CARS). New York: Irving Publishers.Google Scholar
  14. Sparrow, S.S., Balla, D.A. & Cicchetti, D.V. (1984).Vineland Adaptive Behavior Scales. Circle Pines, MI: American Guidance Service.Google Scholar
  15. Thorndike, R.L., Hagen, E.P. & Satler, J.M. (1986).The Stanford-Binet Intelligence Scale:Fourth edition. Chicago: The Riverside Publishing Company.Google Scholar
  16. Turner, B. & Jennings, A.N. (1961). Trisomy for chromosome 22.Lancet I, 49–50.CrossRefGoogle Scholar
  17. Wakabayashi, S. (1979). A case of infantile autism associated with Down syndrome.Journal of Autism and Developmental Disorders, 9, 1–36.CrossRefPubMedGoogle Scholar
  18. World Health Organization (1992).The ICD-10 classification of mental and behavioural disorders. Geneva: WHO.Google Scholar

Copyright information

© Hogrefe & Huber Publishers 1993

Authors and Affiliations

  • Mohammad Ghaziuddin
    • 1
  • Susan Sheldon
    • 1
  • Sanjiv Venkataraman
    • 1
  • Luke Tsai
    • 1
  • Neera Ghaziuddin
    • 1
  1. 1.Division of Child Psychiatry, Psych Annex, 200 E. Hospital DriveUniversity of Michigan Medical CenterAnn ArborUSA

Personalised recommendations