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
Gonadoblastoma in Turner syndrome and Y-chromosome-derived material
β Scribed by Laura Mazzanti; Alessandro Cicognani; Lilia Baldazzi; Rosalba Bergamaschi; Emanuela Scarano; Simona Strocchi; Annalisa Nicoletti; Francesca Mencarelli; Mariacarla Pittalis; Antonino Forabosco; Emanuele Cacciari
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 114 KB
- Volume
- 135A
- Category
- Article
- ISSN
- 1552-4825
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Gonadoblastomas are seen almost exclusively in dysgenetic gonads of patients with a chromosomal mosaicism of 45,X and an additional Y-bearing cell line. This paper presents a case of a Turner mosaic patient with 45,X/46,X,+mar karyotype, who developed a unilateral microscopic gonadoblastoma. Cytogen
This study reports on Y chromosomal genotypes of three patients with gonadoblastoma and one patient with gonadoblastoma and mixed germ cell tumor. Molecular analysis for 35 Y chromosomal loci was performed for DNA samples taken from peripheral leukocytes and lymphoblastoid cell lines, showing that t