## Abstract UllrichโTurner syndrome (UTS) is most commonly due to a 45,X chromosome defect, but is also seen in patients with a variety of Xโchromosome abnormalities or 45,X/46,XY mosaicism. The phenotype of UTS patients is highly variable, and depends largely on the karyotype. Patients are at an i
PCR-based detection of mosaicism in Turner syndrome patients
โ Scribed by T. Yorifuji; Junko Muroi; Masahiko Kawai; Hiroshi Sasaki; Toru Momoi; Kenshi Furusho
- Publisher
- Springer
- Year
- 1996
- Tongue
- English
- Weight
- 52 KB
- Volume
- 99
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
Cytogenetic analysis of patients with Ullrich-Turner syndrome (UTS) may fail to detect low levels of Y chromosome mosaicism or Y-derived marker chromosomes. More sensitive polymerase chain reaction (PCR)-based tests have been developed; however, applicability of these data to prognosis of virilizati
A patient with classical Turner's syndrome and a 45,X/47,XYY mosaicism is described. Each cell line was present in approximately equal amounts in the peripheral blood lymphocytes, while in fibroblasts derived from skin and both gonads only the 45,X karyotype was present. It is suggested that the lat