Detection of de novo del(18)(q22.2) and a familial of 15q13.2-q13.3 microduplication in a fetus with congenital heart defects

• Main Authors: Chih-Ping Chen (Author), Chen-Yu Chen (Author), Schu-Rern Chern (Author), Peih-Shan Wu (Author), Shin-Wen Chen (Author), Fang-Tzu Wu (Author), Li-Feng Chen (Author), Wayseen Wang (Author)
• Format: Book
• Published: Elsevier, 2019-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective: We present detection of de novo del(18)(q22.2) and a familial 15q13.2-q13.3 microduplication in a fetus with congenital heart defects (CHD). Case report: A 27-year-old, primigravid woman was referred for genetic counseling because of fetal CHD. Prenatal ultrasound at 17 weeks of gestation...