1 The Children's Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania
A male pseudohermaphrodite with asymmetrical gonadal differentiation is described. Mullerian duct derivatives persisted on the side where a rudimentary gonad was found, and Wolffian duct structures developed on the side where a testis was present. Triple chromosomal mosaicism was present with a postulated 45/XO, 46/X-isochromosome long arm of Y (or partially deleted Y), 47/X-isochromosome long arm of Y (or partially deleted Y)-Y (long arm partially deleted) karyotype. The relationship of abnormalities of the Y chromosome to fetal gonadal differentiation and function is discussed.
Submitted on October 22, 1962