European Child & Adolescent Psychiatry

, Volume 5, Issue 4, pp 185–192

Maternal origin of inv dup(15) chromosomes in infantile autism

  • T. Martinsson
  • T. Johannesson
  • M. Vujic
  • A. Sjöstedt
  • S. Steffenburg
  • C. Gillberg
  • J. Wahlström
Original Contribution

DOI: 10.1007/BF00538845

Cite this article as:
Martinsson, T., Johannesson, T., Vujic, M. et al. European Child & Adolescent Psychiatry (1996) 5: 185. doi:10.1007/BF00538845
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Abstract

Six male patients with infantile autism and an extra inverted duplicated chromosome 15[inv dup(15)] were reported in a previous study. These patients had four copies of the chromosome region 15pter-q13, or an inv dup(15)(pter>ql3; >q13->pter). In this new study, DNA from the families of four of the patients were analysed using Southern based RFLPs and microsatellite polymorphisms from the region. In all four cases the inv dup(15) chromosome was of maternal origin. Furthermore, the data suggests that it originated in the maternal meiotic process rather than in an early mitosis in the developmental process of the embryo. The extra chromosome contained material from both of the maternally derived 15-chromosomes. Based on the molecular data presented here, a model for the origin of chromosome markers of this type is proposed.

Key words

FISH marker chromosome partial tetrasomy 15, autism 

Copyright information

© Steinkopff Verlag 1996

Authors and Affiliations

  • T. Martinsson
    • 1
  • T. Johannesson
    • 1
  • M. Vujic
    • 1
  • A. Sjöstedt
    • 2
  • S. Steffenburg
    • 3
  • C. Gillberg
    • 3
  • J. Wahlström
    • 1
  1. 1.Department of Clinical GeneticsGöteborg University East HospitalGöteborgSweden
  2. 2.Department of GeneticsGöteborg University Lundberg LaboratoryGöteborgSweden
  3. 3.Department of Child and Adolescent PsychiatryGöteborg University Annedals ClinicsGöteborgSweden

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