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Article

XY female with a dysgerminoma and no mutation in the coding sequence of the SRY gene.

Cancer genetics and cytogenetics - 1 Jul 2002

Morerio Cristina, Calvari Vladimiro, Rosanda Cristina, Porta Simona, Gambini Claudio, Panarello Claudio

Abstract excerpt

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...

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Source

Identifiers

PMID: 12165453
DOI: 10.1016/s0165-4608(01)00662-8

Genes

SRY

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

XY female with a dysgerminoma and no mutation in the coding sequence of the SRY gene.PMID 12165453Read ↗

Molecular analysis of SRY gene in patients with mixed gonadal dysgenesis.Semantic proximity Read ↗

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Mutations in SRY and SOX9: testis-determining genes.Semantic proximity Read ↗

Extended pedigree with multiple cases of XX sex reversal in the absence of SRY and of a mutation at the SOX9 locus.Semantic proximity Read ↗

Monozygotic twins of opposite sex.Semantic proximity Read ↗

Testis-determining factor and Y-linked sex reversal.Semantic proximity Read ↗

Two new novel point mutations localized upstream and downstream of the HMG box region of the SRY gene in three Indian 46,XY females with sex reversal and gonadal tumour formationSemantic proximity Read ↗

Familial Frameshift SRY Mutation Inherited from a Mosaic Father with Testicular Dysgenesis SyndromeSemantic proximity Read ↗

Analysis of the testis-determining gene SRY in patients with XY gonadal dysgenesis.Semantic proximity Read ↗

Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal.Semantic proximity Read ↗

Mutations in SRY and WT1 genes required for gonadal development are not responsible for XY partial gonadal dysgenesis.Semantic proximity Read ↗

Mutations in the conserved domain of SRY are uncommon in XY gonadal dysgenesis.Semantic proximity Read ↗

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