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...
Topics
- Acetylation
- Animals
- Base Sequence
- Cells, Cultured
- DNA Primers
- Dosage Compensation, Genetic
- Female
- Fibroblasts
- Fluorescent Antibody Technique
- Glycoproteins
- Histones
- Humans
- Hybrid Cells
- Lymphocytes
- Mice
- Molecular Sequence Data
- Phenotype
- Phosphorylase Kinase