Molecular genetic characterization of a prenatally detected de novo interstitial deletion of chromosome 20p (20p12-p13) encompassing JAG1 and a literature review of prenatal diagnosis of Alagille syndrome

• Main Authors: Chih-Ping Chen (Author), Chang-Sheng Yin (Author), Liang-Kai Wang (Author), Schu-Rern Chern (Author), Shin-Wen Chen (Author), Shih-Ting Lai (Author), Peih-Shan Wu (Author), Wen-Lin Chen (Author), Wayseen Wang (Author)
• Format: Book
• Published: Elsevier, 2017-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective: We present prenatal diagnosis and molecular genetic characterization of a de novo interstitial deletion of chromosome 20p (20p12-p13) and a literature review of prenatal diagnosis of Alagille syndrome (ALGS). Case report: A 33-year-old woman underwent amniocentesis at 17 weeks of gestatio...