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

• Glavni autori: Chih-Ping Chen (Autor), Chen-Yu Chen (Autor), Schu-Rern Chern (Autor), Peih-Shan Wu (Autor), Shin-Wen Chen (Autor), Fang-Tzu Wu (Autor), Li-Feng Chen (Autor), Wayseen Wang (Autor)
• Format: Knjiga
• Izdano: Elsevier, 2019-09-01T00:00:00Z.
• Teme: article
• Online pristup: 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...