Exome and genome sequencing to unravel the precise breakpoints of partial trisomy 6q and partial Monosomy 2q

• Principais autores: Shuang Zhang (Autor), Qianwei Cui (Autor), Shangying Yang (Autor), Fangxia Zhang (Autor), Chunxia Li (Autor), Xiaoguang Wang (Autor), Bo Lei (Autor), Xunlun Sheng (Autor)
• Formato: Livro
• Publicado em: BMC, 2023-11-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Abstract Background Patients with complex phenotypes and a chromosomal translocation are particularly challenging, since several potentially pathogenic mechanisms need to be investigated. Case presentation Here, we combined exome and genome sequencing techniques to identify the precise breakpoints o...