Supplementary Material for: SOX3 Overdosage Permits Normal Sex Development in Females with Random X Inactivation
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Submicroscopic duplications involving <i>SOX3</i> and/or its flanking regions have been identified in 46,XX individuals both with and without disorders of sex development, raising the question whether <i>SOX3</i> 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 <i>SOX3</i> and its upstream region. The amplified DNA fragments were detected at Xq27. These results provide evidence that <i>SOX3 </i>overdosage permits normal sex development in 46,XX individuals with random X inactivation.
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Karger Publishers创建时间：
2017-06-20
