Human Genetics

, Volume 126, Issue 3, pp 363–373

X chromosome inactivation in clinical practice

Review Article

DOI: 10.1007/s00439-009-0670-5

Cite this article as:
Ørstavik, K.H. Hum Genet (2009) 126: 363. doi:10.1007/s00439-009-0670-5


X chromosome inactivation (XCI) is the transcriptional silencing of the majority of genes on one of the two X chromosomes in mammalian females. Females are, therefore, mosaics for two cell lines, one with the maternal X and one with the paternal X as the active chromosome. The relative proportion of the two cell lines, the X inactivation pattern, may be analyzed by simple assays in DNA from available tissues. This review focuses on medical issues related to XCI in X-linked disorders, and on the value of X inactivation analysis in clinical practice.

Copyright information

© Springer-Verlag 2009

Authors and Affiliations

  1. 1.Department of Medical Genetics, Oslo University Hospital, Rikshospitalet and Faculty Division RikshospitaletUniversity of OsloOsloNorway

Personalised recommendations