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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

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...

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Principais autores: Chih-Ping Chen, Chang-Sheng Yin, Liang-Kai Wang, Schu-Rern Chern, Shin-Wen Chen, Shih-Ting Lai, Peih-Shan Wu, Wen-Lin Chen, Wayseen Wang
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2017-06-01
coleção:Taiwanese Journal of Obstetrics & Gynecology
Assuntos:
Alagille syndrome
20p12 deletion
JAG1
Prenatal diagnosis
Acesso em linha:http://www.sciencedirect.com/science/article/pii/S1028455917300943
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