Article
Molecular cytogenetic characterisation of a small ring X chromosome in a Turner patient and in a male patient with congenital abnormalities: role of X inactivation.
Journal of medical genetics - 1 Feb 1995
Callen D F, Eyre H J, Dolman G, Garry-Battersby M B, McCreanor J R, Valeba A, McGill J J
Abstract excerpt
The association of small accessory marker chromosomes in man with specific abnormalities has been difficult to define owing to variations in the chromosome origin and the size of the markers. In a patient with typical Turner phenotype and a 45,X/46,X, + mar karyotype the marker was shown to be a...
Topics
- Base Sequence
- Child
- Child, Preschool
- DNA Probes
- Dosage Compensation, Genetic
- Female
- Genetic Markers
- Humans
- In Situ Hybridization, Fluorescence
- Karyotyping
- Male
- Molecular Sequence Data
- Phenotype
- Ring Chromosomes
- Turner Syndrome