Familial case with sequence variant in the testis-determining region associated with two sex phenotypes.

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Article

Familial case with sequence variant in the testis-determining region associated with two sex phenotypes.

American journal of human genetics - 1 May 1992

Vilain E, McElreavey K, Jaubert F, Raymond J P, Richaud F, Fellous M

Abstract excerpt

The human Y chromosome encodes a testis-determining factor (TDF) which is responsible for initiating male sex determination. Recently a region of the Y chromosome (SRY) was identified as part of the TDF gene. We have identified a three-generation family (N) in which all XY individuals have a single base-pair substitution resulting in a conservative amino acid change in the conserved domain of the SRY open reading...

Topics

Adolescent
Adult
Base Sequence
DNA-Binding Proteins
Female
Gonadal Dysgenesis
Humans
Kruppel-Like Transcription Factors
Male
Molecular Sequence Data
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Open Reading Frames

Pedigree

Phenotype

Sex Determination Analysis

Transcription Factors

Y Chromosome

Source

Open in PubMed Open full text

Identifiers

PMID: 1570829
PMCID: PMC1682588

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1570829-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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