Patient with Down's syndrome and male pseudohermaphroditism with a 47, XY, +21/46, X, +21 karyotype

Abstract

The present report describes a child with Down's syndrome and male pseudohermaphroditism in whom we found a 47, XY,+21/46, X,+21 mosaic chromosome complement. Necropsy revealed both Mullerian and Wolffian structures and bilateral testes.