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Type: Artigo de Periódico
Title: A Cytogenomic Approach In A Case Of Syndromic Xy Gonadal Dysgenesis
Author: Simioni
M; Monlleo
IL; de Queiroz
CMC; Gazzaneo
IFP; do Nascimento
DLL; de Omena
RL; Piveta
CSDC; de Mello
MP; Gil-da-Silva-Lopes
Abstract: 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 similar to 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. (C) 2016 S. Karger AG, Basel
Subject: Disorders Of Sex Development
Gonadal Dysgenesis
Xp Duplication
Editor: KARGER
Rights: fechado
Identifier DOI: 10.1159/000444870
Date Issue: 2016
Appears in Collections:Unicamp - Artigos e Outros Documentos

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