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Article

Identification of new susceptibility regions for X;Y translocations in patients with testicular disorder of sex development.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - 1 Jan 2011

Beaulieu Bergeron M, Lemyre E, Lemieux N

Abstract excerpt

Testicular disorder of sex development in the presence of a 46,XX karyotype is a rare condition. In most instances, it is caused by an X;Y translocation in the paternal gametes, causing SRY to be transferred on the X chromosome. An abnormal recombination event between homologous genes PRKX and PRKY is implicated in approximately one third of the cases. In this study, we report the characterization by fluorescence...

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Source

Identifiers

PMID: 21088380
DOI: 10.1159/000321995

Genes

PRKX
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.

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