Prenatal diagnosis and array comparative genomic hybridization characterization of interstitial deletions of 8q23.3-q24.11 and 8q24.13 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and haploinsufficiency of TRPS1, RAD21 and EXT1

• Main Authors: Chih-Ping Chen (Author), Ming-Huei Lin (Author), Yi-Yung Chen (Author), Schu-Rern Chern (Author), Yen-Ni Chen (Author), Peih-Shan Wu (Author), Chen-Wen Pan (Author), Meng-Shan Lee (Author), Wayseen Wang (Author)
• Format: Book
• Published: Elsevier, 2015-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective: The aim of this research was to present prenatal diagnosis of Langer-Giedion syndrome (LGS/TRPS type II) and Cornelia de Lange syndrome-4 (CDLS4). Materials and methods: A 36-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Conventional cyt...