Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Morerio, C; Calvari, V; Rosanda, C; Porta, S; Gambini, C; Panarello, C.
XY female with a dysgerminoma and no mutation in the coding sequence of the SRY gene.
Cancer Genet Cytogenet. 2002; 136(1):58-61
Doi: 10.1016%2FS0165-4608%2801%2900662-8
(- Case Report)
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- Co-Autor*innen der Med Uni Graz
- Porta Sepp
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- Abstract:
- We report a 46,XY 11-year-old girl with pure gonadal dysgenesis who developed a dysgerminoma. The testis-determining gene SRY, a candidate for sex reversal, whose alterations seem to correlate with dysgerminoma, was analyzed and found to be normal; its coding sequence was negative for deletions and mutations. DMRT-1 gene mapping on 9p and DAX-1 on Xp21 were also normal. These results suggest the involvement of other genes in sex reversal and call into question the putative relationship between SRY alterations and dysgerminoma.
- Find related publications in this database (using NLM MeSH Indexing)
- Child -
- DNA - analysis
- DNA-Binding Proteins - genetics
- Drug Therapy - genetics
- Dysgerminoma - drug therapy
- Female - drug therapy
- Gonadal Dysgenesis - genetics
- Humans - genetics
- Mutation - genetics
- Nuclear Proteins - genetics
- Ovarian Neoplasms - drug therapy
- Sex Chromosomes - drug therapy
- Sex-Determining Region Y Protein - drug therapy
- Transcription Factors - drug therapy