Presumptive 46,XX-46,XY-47,XXY mosaicism in a hermaphrodite.

Contrary to the expected XX/XY sex chromosome complements in hermaphroditism, a variety of karyotypes have been reported instead. Dewhurst et al. (1965) summarized from published reports the karyotypic findings in 27 patients with convincing evidence ofhermaphroditism, as follows: 46,XX (17); 46,XY (2); 46,XX/47,XXX (1); 46,XX/46,XX + Frag (1); 46,XX/46,XY (3); 46,XX/47,XXY/ 49,XXYYY (1); 46,XX/47,XXY (1); 46,XX/ 48,XXYY (1); 46,XY/45,X (1); and also described a patient of theirs with 46,XX + Frag/45,X mosaicism. Ribas-Mundo and Prats (1965) reported a hermaphrodite with mosaicism consisting of 3 cell lines, 46,XX/46,XY/47,XXY. The present paper reports the second case.