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Article

Clinical traits and molecular findings in 46,XX males.

Clinical genetics - 1 Jul 1995

López M, Torres L, Méndez J P, Cervantes A, Pérez-Palacios G, Erickson R P, Alfaro G, Kofman-Alfaro S

Abstract excerpt

46,XX maleness is characterized by the presence of testicular development in subjects who lack a Y chromosome. The majority of affected persons have normal external genitalia, but 10-15% show various degrees of hypospadias. Several hypotheses have been proposed to explain the etiology of this constitution: translocation of the testis-determining factor (TDF) from the Y to the X chromosome, mutation in an...

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Source

Identifiers

PMID: 7586641
DOI: 10.1111/j.1399-0004.1995.tb04050.x

Genes

SRY
ZFY

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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