PMC7045042_01
(A) Pedigree of the Chinese family. The fully filled symbol in black indicates those affected by Duchenne muscular dystrophy (DMD), and the open symbol indicates those unaffected; the filled semicircle represents asymptomatic carriers. Squares represent male, circles represent female, specifically, triangle represents the labor-inducted fetus:the proband with 46,XX testicular DSD (filled in grey) and DMD gene mutation (filled in black). (B) Ultrasound result of the fetus (27th week of gestation) showed the existence of scrotum, indicating male gonadal differentiation.
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Four members of a Han Chinese nonconsanguineous family were recruited (Figure 1A).