Cytogenomic Investigation of Syndromic Brazilian Patients with Differences of Sexual Development.

José Antonio Diniz FariaDaniela R MoraesLeslie Domenici Kulikowski Rafael Loch Bastista Nathalia Lisboa Gomes Mirian Yumie NishiEvelin ZanardoCarolina Kymie Vasques NonakaBruno Solano de Freitas SouzaBerenice Bilharinho MendoncaSorahia Domenice

Published in: Diagnostics (Basel, Switzerland) (2023)

The SNP array is a useful tool for DSD patients, identifying the molecular etiology in 40% (2/5) of patients with 46,XX DSD and 17.6% (3/17) of patients with 46,XY DSD.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
prognostic factors
mental health
intellectual disability
high throughput
gene expression
patient reported outcomes
single molecule
single cell
genetic diversity