A Cytogenomic Approach in a Case of Syndromic XY Gonadal Dysgenesis

Autor(es)

Simioni, Milena ^[1] ; Monlleo, Isabella Lopes ^[2] ; Costa de Queiroz, Camila M. ^[2] ; Peixoto Gazzaneo, Ilanna Fragoso ^[2] ; Lima do Nascimento, Diogo L. ^[2] ; de Omena Filho, Reinaldo Luna ^[2] ; da Cruz Piveta, Cristiane Santos ^[3] ; de Mello, Maricilda Palandi ^[3] ; Gil-da-Silva-Lopes, Vera L. ^[1]

Afiliação do(s) autor(es)

^[1] Univ Campinas UNICAMP, Fac Med Sci, Dept Med Genet, Campinas, SP - Brazil

^[2] Fed Univ Alagoas UFAL, Univ Hosp, Fac Med, Clin Genet Serv, Maceio - Brazil

^[3] Univ Campinas UNICAMP, CBMEG, Campinas, SP - Brazil

• Tipo de documento: Artigo Científico
• Fonte: SEXUAL DEVELOPMENT; v. 10, n. 1, p. 23-27, 2016.
• Citações Web of Science: 0

Resumo

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)

• Processo FAPESP: 11/23794-7 - Abordagem investigativa em fendas labiopalatais e cardiopatias congênitas relacionadas à síndrome de deleção 22q11.2 por meio das técnicas de open array e aGH
• Beneficiário: Vera Lúcia Gil da Silva Lopes
• Modalidade de apoio: Auxílio à Pesquisa - Regular