Article
The severe phenotype of females with tiny ring X chromosomes is associated with inability of these chromosomes to undergo X inactivation.
American journal of human genetics - 1 Sept 1994
Migeon B R, Luo S, Jani M, Jeppesen P
Abstract excerpt
Mental retardation and a constellation of congenital malformations not usually associated with Turner syndrome are seen in some females with a mosaic 45,X/46,X,r(X) karyotype. Studies of these females show that the XIST locus on their tiny ring X chromosomes is either not present or not expressed. As XIST transcription is well correlated with inactivation of the X chromosome in female somatic cells and...
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