[A 45 X/46 X dic (Yq) puberal male without genital ambiguity. Critical study of the peculiarities of his phenotype].

A boy with a chromosomal mosaic 45 X/46 X dic Yq is described. The unusual features were a Turner phenotype with normal genitalia and he was in puberty. It is apparent that it is not possible to blame alterations in the Y chromosome when this mosaic is associated with ambiguous genitalia or the stigmata of Turner's syndrome.