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

José Antonio Diniz Faria,Daniela R Moraes,Leslie Domenici Kulikowski,Rafael Loch Batista,Nathalia Lisboa Gomes,Mirian Yumie Nishi,Evelin Zanardo,Carolina Kymie Vasques Nonaka,Bruno Solano de Freitas Souza,Berenice Bilharinho Mendonca,Sorahia Domenice

Diagnostics (Basel, Switzerland)（2023）

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摘要

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.

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关键词

disorders of sexual development, copy number variation, SNP array

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