INDIVIDUALS WITH SEX CHROMOSOMAL ANEUPLOIDIES: Does the Phenotype Reflect the Genotype?

Abstract

Abnormalities in sex chromosomes result in individuals with karyotypes that differ from the normal 46,XX human female or the 46,XY human male. While these unusual karyotypes have been described in terms of physical manifestations, most studies have attempted to discern whether or not there are any behavioural or psychological traits associated with individuals exhibiting sex chromosomal aneuploidies. In this paper I will discuss whether these aneuploidic individuals are atypical behaviourally compared with males and females with a normal chromosomal karyotype. Many studies of aneuploidic individuals have concentrated primarily on behavioural aspects. Frequently, inferences have been made concerning personality and behaviour, based on extremely small sample sizes. Some possible reasons for the research emphasis on psychosocial characteristics will be suggested.