Prenatal diagnosis of a 3.2-Mb 2p16.1-p15 duplication associated with familial intellectual disability

• Main Authors: Chih-Ping Chen (Author), Schu-Rern Chern (Author), Peih-Shan Wu (Author), Shin-Wen Chen (Author), Shih-Ting Lai (Author), Tzu-Yun Chuang (Author), Wen-Lin Chen (Author), Chien-Wen Yang (Author), Wayseen Wang (Author)
• Format: Book
• Published: Elsevier, 2018-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective: We present prenatal diagnosis of a 2p16.1-p15 duplication associated with familial intellectual disability, and we discuss the genotype-phenotype correlation. Case report: A 22-year-old, primigravid woman underwent amniocentesis at 22 weeks of gestation because of a family history of inte...