Article
Uniparental and functional X disomy in Turner syndrome patients with unexplained mental retardation and X derived marker chromosomes.
Journal of medical genetics - 1 Jul 1998
Yorifuji T, Muroi J, Kawai M, Uematsu A, Sasaki H, Momoi T, Kaji M, Yamanaka C, Furusho K
Abstract excerpt
We analysed parental origin and X inactivation status of X derived marker (mar(X)) or ring X (r(X)) chromosomes in six Turner syndrome patients. Two of these patients had mental retardation of unknown cause in addition to the usual Turner syndrome phenotype. By FISH analysis, the mar(X)/r(X) chro...
Topics
- Base Sequence
- Chromosome Aberrations
- DNA Primers
- Dosage Compensation, Genetic
- Fathers
- Female
- Genetic Markers
- Humans
- Intellectual Disability
- Karyotyping
- Male
- Mosaicism
- Mothers
- Phenotype
- Polymerase Chain Reaction