Prenatal diagnosis of 45,X/46,XY mosaicism with cleft lip and epispadias

Introduction 45,X/46,XY mosaicism is an uncommon chromosomal anomaly with a range of phenotypes from normal males to cases of multiple congenital anomalies. Materials and methods We report a case with associated cleft lip and epispadias prenatally diagnosed with autopsy evidences. Conclusion Our case, with an uncommon association of congenital anomalies, stresses the diYculty of prenatal counselling regarding 45,X/46,XY mosaicism and discuss the possible role of sex chromosome genes that may be involved in the pathogenesis of both types of midline defect