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.
Unique Characteristics of the X Chromosome and Related Disorders
Drs Shah, DeRemigis, Hageman, Sriram and Waggoner have disclosed no financial relationships relevant to this article. This commentary does contain a discussion of an unapproved/investigative use of a commercial product/device.
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Kshama Shah, Alison DeRemigis, Joseph R. Hageman, Sudhir Sriram, Darrel Waggoner; Unique Characteristics of the X Chromosome and Related Disorders. Neoreviews April 2017; 18 (4): e209–e216. https://doi.org/10.1542/neo.18-4-e209
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