17/7 Translocation trisomy: Practical vindication of a model of sickness

Abstract

A girl was seen by a psychiatrist for relentless rubbing of her eyes and difficult behaviour. A proper diagnosis of her sickness required an understanding of the cause of her physical stigmata, which disclosed a previously undescribed chromosome anomaly (partial trisomy 17p); her mental handicap and behavioural disorder, which were partly a function of parental despair; and the predicament of her father and other carrier relatives who were identified through this child. Explanation or alteration of each component of sickness was necessary to achieve beneficial change.