Summary
Chromosome analysis was performed in a case of mixed gonadal dysgenesis (MGD) with histological demonstration of both testicular structures and Müllerian derivatives. Mosaicism 45,X0/46,X plus a centric fragment was observed. C-, Q- and R-banding techniques show that the fragment has a terminal centromere and that it is derived from the short arm of the Y chromosome from the father. H-Y antigen was also shown to be present in cultured cells. These data demonstrate that both male-determining and H-Y genes are located on the short arm of the Y.
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Faggiano, M., Ferraro, M., Criscuolo, T. et al. Cytological evidence for the location of male-determining and H-Y genes on the short arm of Y chromosome. Hum Genet 54, 323–326 (1980). https://doi.org/10.1007/BF00291577
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DOI: https://doi.org/10.1007/BF00291577