Chromosome mosaicism in a hermaphrodite.

The chromosome complement in 27 patients with convincing evidence of hermaphroditism has now been investigated. A normal female karyotype (44 autosomes + XX) was reported in I7 cases (Bregman, Bregman, Cushner, and Woods, I963; de Assis, Epps, and Bottura, I960; Dewhurst, Warrack, and Casey, I963; German, Bearn, and McGovern, I962; Gordon, O'Gorman, Dewhurst, and Blank, I960; Harnden and Armstrong, I959; Hungerford, Donnelly, Nowell, and Beck, I959; Merrill and Ramsey, I963; Overzier, I963; Root, Eberlein, Briebart, Moorhead, and Mellman, I964; Rosenberg, Clayton, and Hsu, I963; Sasaki and Makino, I960; Solomon and Green, I963) and a normal male karyotype (44 + XY) in 2 (Sandberg, Koepf, Crosswhite, and Hauschka, I960; A. A. Sandberg, I963, personal communication; Shearman, Singh, Lee, Hudson, and Ilbery, I964). Ferguson-Smith, Johnston, and Weinberg (I960) and M. A. Ferguson-Smith (i964, personal communication) reported a patient who appeared to have a mixture of cell types (mosaicism), one cell line apparently having a 44 + XX complement and the other a 44 + XXX complement. The same authors report a second case with 44 + XX karyotype in most of the cells examined, though a few cells showed a small chromosome fragment in addition*. Gartler and his colleagues (Gartler, Waxman, and Giblett, I962; Waxman, Gartler, and Kelley, I962; Giblett, Gartler, and Waxman, I963) described a 44 + XX144 + XY mosaic. Grouchy and others (Grouchy, Moullec, Salmon, Josso, Fregal, and Lamy, I964; J. de Grouchy, I964, personal communication; Br0gger and Aagenaes, I964), and A. Br0gger (I965, personal communication) described two other hermaphrodites with 44 + XX/44 + XY mosaicism. Three celllines, 44 + XX, 44 + XXY, and 44 + XXYYY,