XY sex reversal associated with a deletion 5' to the SRY "HMG box" in the testis-determining region.

doi:10.1073/pnas.89.22.11016

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Article

XY sex reversal associated with a deletion 5' to the SRY "HMG box" in the testis-determining region.

Proceedings of the National Academy of Sciences of the United States of America - 15 Nov 1992

McElreavy K, Vilain E, Abbas N, Costa J M, Souleyreau N, Kucheria K, Boucekkine C, Thibaud E, Brauner R, Flamant F

Abstract excerpt

The human testis-determining factor resides within a 35-kilobase (kb) region of the Y chromosome immediately adjacent to the pseudoautosomal boundary. A candidate gene for human sex determination (SRY) was isolated in this region. Here, we describe a study of 25 cases of XY females with pure gona...

Topics

Amino Acid Sequence
Base Sequence
DNA
Disorders of Sex Development
Female
Genes, Regulator
Humans
Lymphocytes
Male
Molecular Sequence Data
Mutation
Oligodeoxyribonucleotides
Open Reading Frames
Polymerase Chain Reaction

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Sex Determination Analysis

Testis

Transcription, Genetic

X Chromosome

Source

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Identifiers

PMID: 1438307
DOI: 10.1073/pnas.89.22.11016
PMCID: PMC50474

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1438307-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.