Monlleo, Isabella Lopes
Costa de Queiroz, Camila M.
Peixoto Gazzaneo, Ilanna Fragoso
Lima do Nascimento, Diogo L.
de Omena Filho, Reinaldo Luna
da Cruz Piveta, Cristiane Santos
de Mello, Maricilda Palandi
Gil-da-Silva-Lopes, Vera L.
Total Authors: 9
 Univ Campinas UNICAMP, Fac Med Sci, Dept Med Genet, Campinas, SP - Brazil
 Fed Univ Alagoas UFAL, Univ Hosp, Fac Med, Clin Genet Serv, Maceio - Brazil
 Univ Campinas UNICAMP, CBMEG, Campinas, SP - Brazil
Total Affiliations: 3
Web of Science Citations:
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 (AU)