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Article

Variability of sexual phenotype in 46,XX( SRY +) patients: the influence of spreading X inactivation versus position effects

29 Apr 2005

Abstract excerpt

N We have studied causes of incomplete masculinisation in 15 individuals with segments of Yp translocated onto distal Xp. In each case we mapped X and Y breakpoints, determined X inactivation ratios, and performed expression studies of translocated Y genes by allele specific RT-PCR. We confirm the presence of a Yp inversion polymorphism predisposing to X/Y translocation.

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Identifiers

PMID: 15863672
DOI: 10.1136/jmg.2004.022053

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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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