Cytogenetic studies have shown that 40-60% of patients with Ullrich-Turner syndrome (UTS) are 45,X, whereas the rest have structural aberrations of the X chromosome or mosaicism with a second cell line containing a structurally normal or abnormal X or Y chromosome. However, molecular analysis has de
Presence of H-Y antigen in patients with ullrich-Turner syndrome and X-chromosome rearrangements
β Scribed by Haseltine, Florence P. ;Deponte, Kathleen K. ;Breg, W. Roy ;Genel, Myron ;Opitz, John M.
- Publisher
- John Wiley and Sons
- Year
- 1982
- Tongue
- English
- Weight
- 633 KB
- Volume
- 11
- Category
- Article
- ISSN
- 0148-7299
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We describe the cytogenetic evolution of multiple cell lines in the gonadal tissue of a 10-year-old girl with mosaic Ullrich-Turner syndrome (UTS) involving clonal telomeric associations (tas) of the Y chromosome. Gband analysis of all tissues showed at least 2 cell lines; 45, X and 46,X,tas(Y;21)(q
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