Prenatal diagnosis of mos45,X/46,X,+mar in a fetus with normal male external genitalia and a literature review.

Objective: Prenatal diagnosis of mos45,X/46,X,+mar is difficult in genetic counseling. Patients with the presence of a Y-derived marker may manifest male or female external genitalia. Here, we report a fetus with phenotypically male external genitalia of mos45,X/46,X,+mar.