Sex Chromosome Mosaicism Associated with a Psychiatric Problem

Abstract

This 65 year old separated female patient with borderline intelligence and a lifelong history of difficulty in interpersonal relationships is presented as illustrative of the association of a psychiatric problem with a chromosomal abnormality — specifically the rare mosaic female chromosome pattern— 46 XX – 47 XXX. The case also illustrates the difficulties one might encounter in chromosomal investigation of such a patient in a general hospital setting where admission is voluntary, as against the ‘captive’ populations of mental hospitals where most of this type of investigation is undertaken.