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SOX3 Overdosage Permits Normal Sex Development in Females with Random X Inactivation
- Source :
- Sexual Development. 9:125-129
- Publication Year :
- 2015
- Publisher :
- S. Karger AG, 2015.
-
Abstract
- Submicroscopic duplications involving SOX3 and/or its flanking regions have been identified in 46,XX individuals both with and without disorders of sex development, raising the question whether SOX3 overdosage is sufficient to induce testicular development in genetically female individuals. Here, we report a mother-daughter pair with female phenotypes and random X inactivation. The individuals carry complex X chromosomal rearrangements leading to a copy number gain of genomic regions involving SOX3 and its upstream region. The amplified DNA fragments were detected at Xq27. These results provide evidence that SOX3 overdosage permits normal sex development in 46,XX individuals with random X inactivation.
- Subjects :
- Male
Embryology
Gonad
Endocrinology, Diabetes and Metabolism
Gene Dosage
Biology
Gene dosage
Genome
X-inactivation
chemistry.chemical_compound
X Chromosome Inactivation
Gene duplication
medicine
Humans
Disorders of sex development
Gene Rearrangement
Genetics
Genome, Human
SOXB1 Transcription Factors
Sexual Development
medicine.disease
Phenotype
Molecular biology
medicine.anatomical_structure
chemistry
Child, Preschool
Female
DNA
Developmental Biology
Subjects
Details
- ISSN :
- 16615433 and 16615425
- Volume :
- 9
- Database :
- OpenAIRE
- Journal :
- Sexual Development
- Accession number :
- edsair.doi.dedup.....614ac3fdfab1e43d88e533606a6be1db