Two cases of structural aberrations of the Y chromosome are described. The first one was a homosexual, phenotypically male with 46, XYq— (deletion of the distal two-thirds). The second one showed marked signs of hypogonadism, and a mosaicism 46, XY/45, X, 21-, Y-, t(21q+; Yp-)+. Both cases are in agreement with the existence, in the proximal third of the long arm of Y chromosome, of an inhibitory gene which acts on that, inhibiting the testicular development, located in X chromosome.
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Con il contributo del Ministero per i Beni e le Attività Culturali