PEDIATRICS Vol. 32 No. 1 July 1963, pp. 56-62
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TRIPLE MOSAICISM WITH AN ISOCHROMOSOME DERIVED FROM A PARTIALLY DELETED Y IN A MALE PSEUDOHERMAPHRODITE

Harvey D. Klevit M.D.1, William J. Mellman M.D.1, and Walter R. Eberlein M.D.1

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
Accepted on December 27, 1962