Human behavior cytogenetics: Review of psychopathology in three syndromes—47,XXY; 47,XYY; and 45,X∗

Before the technique of actually visualizing and counting chromosomes in man was established in 1959, no syndrome, endocrine or otherwise, could be identified on the basis of its specific cytogenetic anomaly. Anomalies of the sex chromatin or Barr body (Moore, 1966) had, however, by 1953 established that Klinefelter's syndrome and Turner's syndrome are associated with an anomaly of chromosomal material. Both syndromes had still earlier been among those identifiable on the basis of symptoms of endocrine dysfunction and associated congenital stigmata. By contrast, the 47,XYY syndrome, lacking pathognomonic endocrine or other stigmata, was not recognizable as an entity until after the first XYY karyotype was reported in 1961 by Sandberg and coworkers. The purpose of the present paper is to present a review of the three syndromes, Klinefelter's (47,XXY), 47,XYY, and TurnerSs (45,X), with respect to behavioral disability. The review will draw on published and unpublished material from the psychohormonal research unit at Johns Hopkins, and from the published studies of others.