RESUMEN

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 their possible role in clinical features are presented to support the discussion on genotype-phenotype correlation in cases of syndromic XY gonadal dysgenesis.

Asunto(s)

Análisis Citogenético/métodos , Disgenesia Gonadal 46 XY/genética , Testículo/anomalías , Preescolar , Femenino , Genotipo , Disgenesia Gonadal 46 XY/patología , Humanos , Lactante , Recién Nacido , Masculino , Fenotipo , Testículo/patología