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Male patient 46,XX SRY-negative and unambiguous genitalia: A case report


ABSTRACT: In most cases, male sexual differentiation occurs with SRY gene mediation. However, exceptional genotypes have been identified, as shown in this paper.

SUBMITTER: Casas-Vargas A 

PROVIDER: S-EPMC7363349 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature

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Male patient 46,XX SRY-negative and unambiguous genitalia: A case report

Casas-Vargas Andrea A   Galvis Johanna J   Blanco Jenny J   Rengifo Laura L   Usaquén William W   Velasco Harvy H  

Biomedica : revista del Instituto Nacional de Salud 20191201 4


In most cases, male sexual differentiation occurs with SRY gene mediation. However, exceptional genotypes have been identified, as shown in this paper. This was a male adult patient seen at the Servicio de Paternidades, Instituto de Genética, Universidad Nacional de Colombia. The following procedures were carried out: Amelogenin gene and short tandem repeat analyses using human identification commercial kits, conventional karyotype, SRY fluorescent in situ hybridization, PCR analysis for Y chrom  ...[more]

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2014-08-05 | GSE57137 | GEO