The existence of genes along the inactive X which are not silenced explains the defects in humans with abnormal numbers of the X chromosome, such as Turner syndrome (X0) or Klinefelter syndrome (XXY).
A existencia de xenes no X inactivo que non son silenciados explica os defectos observados en humanos con cantidades anormais de cromosomas X, como os que presentan síndrome de Turner (X0) ou síndrome de Klinefelter (XXY).