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The psychiatric phenotype in triple X syndrome: New hypotheses illustrated in two cases
Abstract: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.
Keywords:Triple X syndrome  behavioural phenotype  development in adults  occupational development  sexual trauma  autism spectrum disorders
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