Genotype-phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature.

This article reports a patient with a de novo ∼ 9.32 Mb duplication at 16p13.3 and a ∼ 71 Kb deletion at 22q13.

[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.

Diagnostic implications of associated defects in patients with typical orofacial clefts.

Objectives: To describe prevalence of associated defects and clinical-genetic characteristics of patients with typical orofacial clefts seen at a reference genetic service.

Methods: Descriptive study conducted between September of 2009 and July of 2014. Two experienced dysmorphologists personally collected and coded clinical data using a validated, standard multicenter protocol.