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

Developmental Neurorehabilitation
Maarten OtterLeopold M G Curfs

Abstract

Triple X syndrome (47,XXX or trisomy X) is a relatively frequent cytogenetic condition with a large variety of physical and behavioural phenotypes. Two adult patients with a triple X karyotype are described. 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. 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. 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.

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Citations

Apr 2, 2013·European Journal of Medical Genetics·Kirstine StochholmClaus H Gravholt
Mar 31, 2015·World Journal of Pediatrics : WJP·Zi-Yan JiangChao-Chun Zou
Jun 4, 2020·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Morten Muhlig NielsenClaus Højbjerg Gravholt
Aug 22, 2018·Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology·Tamar GreenAllan L Reiss
Jun 25, 2020·Reproductive Sciences·Shanlee M DavisNicole R Tartaglia
Feb 16, 2021·BJPsych Open·Maarten OtterClaudia Vingerhoets

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