Abnormality of the X chromosome in human 46,XY female siblings with dysgenetic ovaries

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Science  15 Feb 1980:
Vol. 207, Issue 4432, pp. 768-769
DOI: 10.1126/science.7352285


An abnormal extra band was found on the short arm of the X chromosome in a 46,XY female and in her 46,XY female fetal sibling. Despite presence of the intact Y chromosome, there was no evidence of testicular differentiation in either subject. Production of H-Y antigen was suppressed in both subjects. The data suggest that development of the mammalian testis requires a normal function of the X chromosome.