Article
Breakpoint analysis of Turner patients with partial Xp deletions: implications for the lymphoedema gene location.
Journal of medical genetics - 1 Sept 2001
Boucher C A, Sargent C A, Ogata T, Affara N A
Abstract excerpt
BACKGROUND: Turner syndrome is characterised by a 45,X karyotype and a variety of skeletal, lymphoedemic, and gonadal anomalies. Genes involved in the Turner phenotype are thought to be X/Y homologous with the X genes escaping X inactivation. Haploinsufficiency of the SHOX gene has been reported to cause the short stature seen in Turner syndrome patients. More recently, mutations of this gene have been shown to...
Topics
- Chromosome Breakage
- Chromosome Deletion
- Chromosome Mapping
- Databases, Nucleic Acid
- Dosage Compensation, Genetic
- Edema
- Female
- Genotype
- Homeodomain Proteins
- Humans
- In Situ Hybridization, Fluorescence
- Karyotyping
- Microsatellite Repeats
- Phenotype