Tetrasomy of 11q13.4-q14.3 due to an intrachromosomal triplication associated with paternal uniparental isodisomy for 11q14.3-qter, intrauterine growth restriction, developmental delay, corpus callosum dysgenesis, microcephaly, congenital heart defects and facial dysmorphism

• Main Authors: Chih-Ping Chen (Author), Shuan-Pei Lin (Author), Schu-Rern Chern (Author), Peih-Shan Wu (Author), Shin-Wen Chen (Author), Fang-Tzu Wu (Author), Dai-Dyi Town (Author), Wayseen Wang (Author)
• Format: Book
• Published: Elsevier, 2021-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective: We present tetrasomy of 11q13.4-q14.3 due to an intrachromosomal triplication associated with paternal isodisomy of uniparental disomy (iso-UPD) for 11q14.3-qter and multiple abnormalities. Case report: A 30-year-old primigravid woman was found to have intrauterine growth restriction (IUG...