A Cytogenomic Approach in a Case of Syndromic XY Gonadal Dysgenesis.

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.

[Profile of patients with genitourinary anomalies treated in a clinical genetics service in the Brazilian unified health system].

Objective:: To describe the profile of patients with genitourinary abnormalities treated at a tertiary hospital genetics service.

Methods:: Cross-sectional study of 1068 medical records of patients treated between April/2008 and August/2014. A total of 115 cases suggestive of genitourinary anomalies were selected, regardless of age.