title: A Cytogenomic Approach in a Case of Syndromic XY Gonadal Dysgenesis.
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 ∼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.
authors.affiliation: Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil.
authors.forename: Milena
authors.initials: M
authors.lastname: Simioni
authors.forename: Isabella
authors.initials: I
authors.lastname: Lopes Monlleó
authors.forename: Camila M
authors.initials: CM
authors.lastname: Costa de Queiroz
authors.forename: Ilanna
authors.initials: I
authors.lastname: Fragoso Peixoto Gazzaneo
authors.forename: Diogo L
authors.initials: DL
authors.lastname: Lima do Nascimento
authors.forename: Reinaldo
authors.initials: R
authors.lastname: Luna de Omena Filho
authors.forename: Cristiane
authors.initials: C
authors.lastname: Santos da Cruz Piveta
authors.forename: Maricilda
authors.initials: M
authors.lastname: Palandi de Mello
authors.forename: Vera L
authors.initials: VL
authors.lastname: Gil-da-Silva-Lopes
mesh_terms: D002675:Child, Preschool; D020732:Cytogenetic Analysis / Q000379:methods*; D005260:Female; D005838:Genotype; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D013737:Testis / Q000002:abnormalities* / Q000473:pathology