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

• Glavni autori: Chih-Ping Chen (Autor), Chang-Sheng Yin (Autor), Liang-Kai Wang (Autor), Schu-Rern Chern (Autor), Shin-Wen Chen (Autor), Shih-Ting Lai (Autor), Peih-Shan Wu (Autor), Wen-Lin Chen (Autor), Wayseen Wang (Autor)
• Format: Knjiga
• Izdano: Elsevier, 2017-06-01T00:00:00Z.
• Teme: article
• Online pristup: 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...