The psychiatric phenotype in triple X syndrome: New hypotheses illustrated in two cases

Maarten Otter*, Constance T. R. M. Schrander-Stumpel, Robert Didden, Leopold M. G. Curfs

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

9 Citations (Web of Science)


Background: Triple X syndrome (47, XXX or trisomy X) is a relatively frequent cytogenetic condition with a large variety of physical and behavioural phenotypes. Method: Two adult patients with a triple X karyotype are described. Results: Their karyotype was unknown until some years ago. What these patients have in common is that they were diagnosed with a broader autism phenotype, they were sexually abused, they suffer from psychotic illness and they show challenging behaviour, suicidality and a decline in occupational capacity. Discussion: These gene-environment interactions are discussed. Gene-environment interactions may explain the variety of behavioural and psychiatric phenotypes in triple X syndrome. Ongoing atypical development in adults is hypothesized. Conclusions: Gene-environment interactions and ongoing atypical development in adults should be taken into account in research concerning the psychiatric phenotype of developmental disorders, especially those involving triple X syndrome.
Original languageEnglish
Pages (from-to)233-238
JournalDevelopmental Neurorehabilitation
Issue number3
Publication statusPublished - 2012


  • Triple X syndrome
  • behavioural phenotype
  • development in adults
  • occupational development
  • sexual trauma
  • autism spectrum disorders

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