Uveal coloboma and true Klinefelter syndrome.

The clinical features of 'Klinefelter' syndrome were first described by Klinefelter, Reifenstein, and Albright (1942). The true Klinefelter syndrome is chromatin-positive and is due to X chromosome polysomy, most frequently 47,XXY (Jacobs and Strong, 1959), but karyotypes with one or more X's or Y's additional to the XXY formula, such as 48,XXXY, 49,XXXXY, and mosaicisms of XXY with other stem-lines, are variants of the syndrome (Barr et al., 1959; Ford et al., 1959; Fraccaro and Lindsten, 1960; Muldal and Ockey, 1960; Ellis et al., 1961; Harnden and Jacobs, 1961). The somatic abnormalities of the syndrome are relatively minor, especially at an early age and mostly only observed at or after puberty. They are: hypogonadism, testicular underdevelopment and atrophy (hyalinization of seminiferous tubules), inconstant gynaecomastia, and hormonal deviations, such as increased excretion ofgonadotrophins. The following extragenital manifestations are frequent: poorly developed musculature, osteoporosis, skeletal anomalies, cutaneous angiomata, and mental retardation. The clinical picture ofXXXY and other variants is similar to that of XXY subjects, though there seems to be a higher frequency of additional congenital abnormalities. The purpose of this paper is to report the presence of bilateral uveal coloboma in a 46,XX/47,XXY chromatin-positive boy.