Article
A Cytogenomic Approach in a Case of Syndromic XY Gonadal Dysgenesis.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - 1 Jan 2016
Simioni Milena, Lopes Monlleó Isabella, Costa de Queiroz Camila M, Fragoso Peixoto Gazzaneo Ilanna, Lima do Nascimento Diogo L, Luna de Omena Filho Reinaldo, Santos da Cruz Piveta Cristiane, Palandi de Mello Maricilda, Gil-da-Silva-Lopes Vera L
Abstract excerpt
This is the first molecular characterization of a female XY patient with an Xp duplication due to an X;22 translocation. Array CGH detected a copy number gain of ∼36 Mb in the Xp22.33p21.1 region involving 150 genes. Clinical and molecular studies described in the literature have suggested DAX1 duplication as the major cause responsible for a sex reversal phenotype. Additionally, the interaction between genes and...
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