XY Sex Reversal Associated with a Deletion 5' to the SRY "HMG Box" in the Testis-Determining Region

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 gonadal...

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Veröffentlicht in:	Proceedings of the National Academy of Sciences - PNAS 1992-11, Vol.89 (22), p.11016-11020
Hauptverfasser:	McElreavy, Ken, Vilain, Eric, Abbas, Nacer, Costa, Jean-Marc, Souleyreau, Nicole, Kucheria, Kiran, Boucekkine, Chafika, Thibaud, Elisabeth, Brauner, Raja, Flamant, Francoise, Fellous, Marc
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Sequence Base Sequence Biological and medical sciences deletion Disorders of Sex Development DNA DNA - blood DNA - genetics DNA - isolation & purification DNA probes Female Gels Genes Genes, Regulator Genetic mutation Genomics gonadal dysgenesis Gynecology. Andrology. Obstetrics Humans Lymphocytes - physiology Male Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance man Medical research Medical sciences Molecular Sequence Data Mutation Oligodeoxyribonucleotides Open Reading Frames Phenotypes Polymerase Chain Reaction Sex chromosomes sex determination Sex Determination Analysis Sexes Testis testis-determining factor Transcription, Genetic X Chromosome Y Chromosome
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