Prenatal diagnosis, sonographic findings and molecular genetic analysis of a 46,XX/46,XY true hermaphrodite chimera

Abstract

Prenatal sonographic diagnosis of ambiguous genitalia should alert true hermaphroditism and prompt thorough genetic investigations. DNA marker analysis is helpful in delineation of true fetal chimerism as well as determination of its genetic origin in prenatally detected 46,XX/46,XY chromosome complement.