Journal of Autism and Developmental Disorders

, Volume 33, Issue 2, pp 177–185 | Cite as

Partial Tetrasomy of Chromosome 3q and Mosaicism in a Child with Autism

  • Guiomar OliveiraEmail author
  • Eunice Matoso
  • Astrid Vicente
  • Patricia Ribeiro
  • Carla Marques
  • Assunção Ataíde
  • Teresa Miguel
  • Jorge Saraiva
  • Isabel Carreira


In this report we describe the case of an 11-year-old male with autism and mental retardation, presenting a tetrasomy of chromosome 3q. Cytogenetic analysis showed a mosaic for an unbalanced karyotype consisting of mos46,XY,add(12)(p13.3)(56)/46,XY(45). FISH using WCP and subtelomeric probes identified the extra material on 12p to be an inverted duplication of the distal segment of chromosome 3q. Anomalies in chromosome 3q have not been previously described in association with autism, although association with psychomotor delays and behavior problems has been frequently reported and are here further discussed. This chromosomal 3q segment is therefore likely to include genes involved in specific neurodevelopment pathways, and further analysis of the region is warranted for the identification of the molecular alterations that lead to the autistic features described.

Autism chromosome 3 partial tetrasomy 3q mosaicism 


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Copyright information

© Plenum Publishing Corporation 2003

Authors and Affiliations

  • Guiomar Oliveira
    • 1
    Email author
  • Eunice Matoso
    • 2
  • Astrid Vicente
    • 3
  • Patricia Ribeiro
    • 2
  • Carla Marques
    • 1
  • Assunção Ataíde
    • 4
  • Teresa Miguel
    • 4
  • Jorge Saraiva
    • 5
  • Isabel Carreira
    • 2
  1. 1.Centro de Desenvolvimento da CriançaHospital Pediátrico CoimbraPortugal
  2. 2.Unidade Citogenética, Faculdade de Medicina—Universidade de CoimbraPortugal
  3. 3.Instituto Gulbenkian de CiênciaOeirasPortugal
  4. 4.Direcção Regional da Educação do CentroPortugal
  5. 5.Serviço de GenéticaCentro Hospitalar CoimbraPortugal

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