Prenatal and postnatal diagnoses and phenotype of 8p23.3p22 duplication in one family

• Main Authors: Panlai Shi (Author), Conghui Wang (Author), Yuting Zheng (Author), Xiangdong Kong (Author)
• Format: Knjiga
• Izdano: BMC, 2021-03-01T00:00:00Z.
• Teme: article
• Online dostop: Connect to this object online.

Abstract Background Distal 8p duplication is rare but clinically significant. Duplication syndrome results in variable phenotypes, such as developmental delay, intellectual disability, and malformation of the heart. We aimed to provide a better understanding of the phenotypes by studying duplication...