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Cytogenetic studies in psychiatry are important in view of the potential multiple etiologies of psychiatric syndromes, the strong genetic component of the functional psychoses, and the high incidence of chromosome abnormalities reported in diverse psychiatric populations. These studies, that suffered largely from heterogenous patient samples and lack of diagnostic criteria, involved mainly “gross” screening for sex chromosome defects (sex chromatin). As a result, the incidence of minor chromosome variants, as detected with new chromosome techniques, remains largely unknown in psychiatry. Bipolar affective disorder (manic-depressive) is a good place to start the more elaborate studies, since criteria for diagnosis is widely agreed upon and the illness has a predictable course and treatment response suggestive of a common etiology.

Recent cytogenetic developments, such as the chromosome banding …