AN XXXY SEX CHROMOSOME COMPLEX IN KLINEFELTER SUBJECTS WITH DUPLICATED SEX CHROMATIN

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Abstract
Chromosome studies were carried out on 2 mentally defective male patients with Klinefelter''s syndrome, whose interphase nuclei contained, in many instances, 2 masses of sex chromatin. In both patients the chromosome number was 48, or 2 in excess of the normal diploid number for man, in cells derived from blood, bone marrow and skin. Analysis of metaphase plates showed a chromosome complement of 22 pairs of normal autosomes and an XXXY sex chromosome complex. In one of the patients, cells derived from 1 of 4 skin biopsy specimens exhibited further chromosome anomalies that presumably arose during cultivation of the cells in vitro. Sex chromosome complexes XXY, XXXY and XXYY have now been demonstrated in chromatin-positive males with seminiferous tubule dysgenesis. The basic requirement in the cytogenetics of the syndrome appears to be the presence of at least two X chromosomes in combination with at least one Y chromosome.