Figure 1. Pedigree analysis in the X-ALD phenotype (A) and XCI phenotype (B).

A: Two of the five heterozygous females were clinically affected. B: XCI skewing was found in four female members, including extremely skewing in one symptomatic carrier. Moderately Skewed XCI: 80∶20≤XCI ratio<95∶5; Extremely Skewed XCI: XCI ratio≥95∶5.