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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 (- Case Report)
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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

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