Turner syndrome patients are H-Y positive
✍ Scribed by U. Wolf; M. Fraccaro; Antonia Mayerová; T. Hecht; Orsetta Zuffardi; H. Hameister
- Publisher
- Springer
- Year
- 1980
- Tongue
- English
- Weight
- 337 KB
- Volume
- 54
- Category
- Article
- ISSN
- 0340-6717
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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
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
A 45,X karyotype was observed in all cells examined from an amniotic 0uid sample taken at 16 weeks' gestation from a 37-year-old patient referred because of her age. Following termination of the pregnancy, all cells examined from fetal tissues (cardiac blood, skin, and muscle) showed a 46,XX karyoty