Colour-Blindness in " Ovarian Agenesis " (Gonadal Dysplasia)

It Is 50 Years since the Discovery of the Male Determining Role of the Y Chromosome!

“…Then in 1954, Polani and colleagues discovered 'male' nuclear sex in female patients with Turner syndrome and coarctation of the aorta (a cardiac malformation more often found in males). A larger series of Turner patients showed a frequency of color blindness equivalent to males but not females [Polani et al, 1956]. The same year Bradbury and colleagues [1956] reported male cases of the Klinefelter syndrome with 'female' nuclear sex.…”

“…The same year Bradbury and colleagues [1956] reported male cases of the Klinefelter syndrome with 'female' nuclear sex. It was thought that these 2 syndromes were examples of sex reversal in genetic males and females respectively, although Polani et al [1956] considered an alternative possibility that chromatin-negative Turner patients might have an XO sex chromosome complement. The only inconsistency was a chromatin-positive Klinefelter patient whose testicular biopsy showed a single tubule with spermatogenesis, mature sperm, and an XY bivalent in primary spermatocytes [Ferguson-Smith and Munro, 1958], that contradicted the assumption of complete sex reversal in a genetic female.…”

Search for the Turner Gene

“…Some two decades after Turner's classic description of seven patients (1), Ford and colleagues reported the absence of one sex chromosome, or monosomy X, in a TS woman (2). Their finding confirmed earlier conjectures about the etiology of TS based upon the absence of sex chromatin and the high prevalence of X-linked recessive color blindness in these women (3).…”

Mary Lyon and the hypothesis of random X chromosome inactivation

“…Notable among the Wrst category were Paul Polani's studies of patients with Turner syndrome (Polani et al 1954(Polani et al , 1956, where he showed that, despite their female phenotype, they had a male frequency of colour blindness, suggesting presence of a single X chromosome, while there was likewise an absence of sex chromatin; in 1959 a full chromosome study by Charles Ford (a close colleague at Harwell of Mary Lyon), Polani and colleagues conWrmed that these patients were indeed 45 XO in their chromosome constitution, showing that presence of a Y chromosome was necessary for a male phenotype and that mammalian sex determination was unlike that of Drosophila; in the same year, the XO mouse was shown to be fully fertile (unlike human Turner syndrome) and of normal phenotype (Welshons and Russell 1959).…”