Prenatal diagnosis and molecular cytogenetic characterization of a 1.07-Mb microdeletion at 5q35.2-q35.3 associated with NSD1 haploinsufficiency and Sotos syndrome

• Main Authors: Chih-Ping Chen (Author), Chen-Ju Lin (Author), Schu-Rern Chern (Author), Yu-Peng Liu (Author), Yu-Ling Kuo (Author), Yen-Ni Chen (Author), Peih-Shan Wu (Author), Dai-Dyi Town (Author), Li-Feng Chen (Author), Chien-Wen Yang (Author), Wayseen Wang (Author)
• Format: Book
• Published: Elsevier, 2014-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective: To present prenatal diagnosis and molecular cytogenetic characterization of a de novo 5q35 microdeletion associated with Sotos syndrome. Methods: This was the first pregnancy of a 29-year-old woman. The pregnancy was uneventful until 27 weeks of gestation when left ventriculomegaly was fi...