Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 2q12.2→q13 encompassing MALL, NPHP1, RGPD6 and BUB1

• Main Authors: Chih-Ping Chen (Author), Shin-Wen Chen (Author), Schu-Rern Chern (Author), Peih-Shan Wu (Author), Fang-Tzu Wu (Author), Yen-Ting Pan (Author), Chen-Wen Pan (Author), Wayseen Wang (Author)
• Format: Book
• Published: Elsevier, 2022-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective: We present prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 2q12.2→q13 encompassing MALL, NPHP1, RGPD6 and BUB1. Case report: A 36-year-old, primigravid woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age. Amnioc...