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

• Main Authors: Chih-Ping Chen (Author), Jian-Pei Huang (Author), Yi-Yung Chen (Author), Schu-Rern Chern (Author), Peih-Shan Wu (Author), Shin-Wen Chen (Author), Wayseen Wang (Author), Chen-Chi Lee (Author)
• Formato: Livro
• Publicado em: Elsevier, 2019-11-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

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...