Clinical findings and genetic analysis of patients with copy number variants involving 17p13.3 using a single nucleotide polymorphism array: a single-center experience

• Autores principales: Bin Liang (Autor), Donghong Yu (Autor), Wantong Zhao (Autor), Yan Wang (Autor), Xiaoqing Wu (Autor), Lingji Chen (Autor), Na Lin (Autor), Hailong Huang (Autor), Liangpu Xu (Autor)
• Formato: Libro
• Publicado: BMC, 2022-12-01T00:00:00Z.
• Materias: article
• Acceso en línea: Connect to this object online.

Abstract Background 17p13.3 microdeletions or microduplications (collectively known as copy number variants or CNVs) have been described in individuals with neurodevelopmental disorders. However, 17p13.3 CNVs were rarely reported in fetuses. This study aims to investigate the clinical significance o...