Article
Deficient transcription of XIST from tiny ring X chromosomes in females with severe phenotypes.
Proceedings of the National Academy of Sciences of the United States of America - 15 Dec 1993
Migeon B R, Luo S, Stasiowski B A, Jani M, Axelman J, Van Dyke D L, Weiss L, Jacobs P A, Yang-Feng T L, Wiley J E
Abstract excerpt
The severe phenotype of human females whose karyotype includes tiny ring X chromosomes has been attributed to the inability of the small ring X chromosome to inactivate. The XIST locus is expressed only from the inactive X chromosome, resides at the putative X inactivation center, and is consider...
Topics
- Adolescent
- Adult
- Animals
- Child
- Child, Preschool
- Chromosome Mapping
- Female
- Genetic Markers
- Hominidae
- Humans
- In Situ Hybridization, Fluorescence
- Karyotyping
- Middle Aged
- Phenotype
- Polymerase Chain Reaction