Y-chromosome markers in Turner syndrome: Screening of 130 patients
✍ Scribed by Sallai, Á.; Sólyom, J.; Dobos, M.; Szabó, J.; Halász, Z.; Ságodi, L.; Niederland, T.; Kozári, A.; Bertalan, R.; Ugocsai, P.; Fekete, G.
- Book ID
- 125336309
- Publisher
- Springer-Verlag
- Year
- 2009
- Tongue
- English
- Weight
- 111 KB
- Volume
- 33
- Category
- Article
- ISSN
- 0391-4097
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DNA analyses of 41 individuals with stigmata of Turner syndrome and a 45,X/46,X+mar or 46,X+mar karyotype were carried out. Southern-blot analysis employing 17 Y-specific probes were used to determine whether the marker chromosome was Y-chromosomal in origin. Of the 41 DNA samples from these patient
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