X-linked disorders include chromosomal aberrations as well as deleterious variants in the specific genes encoded on the X chromosome. In comparison to autosomal chromosomes, the X chromosome has unique features that impact disease expression. The primary features that alter the transmission and expression of X-linked disorders are X inactivation and the unequal distribution of X chromosomes between male and female infants. This article reviews these unique characteristics and applies their guiding principles in a broad overview to Klinefelter syndrome, ornithine transcarbamylase (OTC) deficiency, hemophilia, and fragile X syndrome.

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