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  • Title: Presence of H-Y antigen in female patients with sex-chromosome mosaics and absence of testicular tissue.
    Author: Müller U, Mayerova A, Fraccaro M, Zuffardi O, Mikkelsen M, Prader A.
    Journal: Am J Med Genet; 1983 Jun; 15(2):315-21. PubMed ID: 6603793.
    Abstract:
    H-Y antigen was tested in five women with sex chromosome mosaicism and gonadal streaks. Three patients had a 45,X/46,XY or 46,X,der(Y) and two a 45,X/46,X, der(X) chromosome constitution. All patients were H-Y antigen positive. Lack of testis differentiation in these women may be explained by subthreshold expression of H-Y antigen, different H-Y antigen molecules, and/or different tissue distribution of the chromosome mosaicism.
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