Prenatal diagnosis of a 1.6-Mb 4p16.3 interstitial microdeletion encompassing FGFRL1 and TACC3 associated with bilateral cleft lip and palate of Wolf-Hirschhorn syndrome facial dysmorphism and short long bones

• Main Authors: Chih-Ping Chen (Author), Chen-Yu Chen (Author), Schu-Rern Chern (Author), Peih-Shan Wu (Author), Shin-Wen Chen (Author), Shih-Ting Lai (Author), Tzu-Yun Chuang (Author), Chien-Wen Yang (Author), Li-Feng Chen (Author), Wayseen Wang (Author)
• Format: Book
• Published: Elsevier, 2017-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective: We present prenatal diagnosis of a 4p16.3 interstitial microdeletion associated with bilateral cleft lip and palate and short long bones on prenatal ultrasound, and we discuss the genotype-phenotype correlation. Materials and methods: A 32-year-old woman underwent amniocentesis at 22 week...