Abnormality of the X chromosome in human 46,XY female siblings with dysgenetic ovaries.
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.
D005260:Female; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics*; D006182:H-Y Antigen / Q000032:analysis / Q000235:genetics; D006801:Humans; D008297:Male; D010053:Ovary / Q000002:abnormalities / Q000196:embryology; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D012730:Sex Chromosomes; D012732:Sex Determination Analysis; D013737:Testis / Q000196:embryology; D014960:X Chromosome
D006182:H-Y Antigen