Detection of a familial 1q21.1 microdeletion and concomitant CHD1L mutation in a fetus with oligohydramnios and bilateral renal dysplasia on prenatal ultrasound

Detection of a familial 1q21.1 microdeletion and concomitant CHD1L mutation in a fetus with oligohydramnios and bilateral renal dysplasia on prenatal ultrasound

Objective: We present detection of a familial 1q21.1 microdeletion and concomitant CHD1L mutation in a fetus with oligohydramnios and bilateral renal dysplasia on prenatal ultrasound. Case report: A 37-year-old, primigravid woman was referred for level II ultrasound examination at 16 weeks of gestat...

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Bibliographic Details
Main Authors: Chih-Ping Chen, Jian-Pei Huang, Yi-Yung Chen, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Wayseen Wang, Chen-Chi Lee
Format: Article
Language:English
Published: Elsevier 2019-11-01
Series:Taiwanese Journal of Obstetrics & Gynecology
Online Access:http://www.sciencedirect.com/science/article/pii/S1028455919302293

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http://www.sciencedirect.com/science/article/pii/S1028455919302293

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