Article
45,X/46,X,idic(Yq) mosaicism: clinical, cytogenetic, and molecular studies in four individuals.
American journal of medical genetics - 6 Aug 1998
Teraoka M, Narahara K, Yokoyama Y, Tsuji K, Kikkawa K, Ito S, Koyama K, Seino Y
Abstract excerpt
45,X/46,X,idic(Yq) mosaicism is associated with a variety of sex phenotypes, including Ullrich-Turner syndrome (UTS), intersexuality, and complete male. It remains unclear whether the phenotypic variability results from a dilutional effect by the 45,X cell line in the primordial gonad or an abnor...
Topics
- Adolescent
- Adult
- Cells, Cultured
- DNA-Binding Proteins
- Deleted in Azoospermia 1 Protein
- Female
- Gene Dosage
- Humans
- In Situ Hybridization, Fluorescence
- Infant, Newborn
- Karyotyping
- Kruppel-Like Transcription Factors
- Male
- Mosaicism
- Nuclear Proteins
- Phenotype
- Polymerase Chain Reaction
- RNA-Binding Proteins
