Molecular genetic characterization of a prenatally detected de novointerstitial deletion of chromosome 20p (20p12-p13) encompassing JAG1and a literature review of prenatal diagnosis of Alagille syndrome

Autor: Chen, Chih-Ping, Yin, Chang-Sheng, Wang, Liang-Kai, Chern, Schu-Rern, Chen, Shin-Wen, Lai, Shih-Ting, Wu, Peih-Shan, Chen, Wen-Lin, Wang, Wayseen
Zdroj: Taiwanese Journal of Obstetrics and Gynecology; June 2017, Vol. 56 Issue: 3 p390-393, 4p
Abstrakt: We present prenatal diagnosis and molecular genetic characterization of a de novointerstitial deletion of chromosome 20p (20p12-p13) and a literature review of prenatal diagnosis of Alagille syndrome (ALGS).
Databáze: Supplemental Index