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

• Hlavní autoři: Chih-Ping Chen (Autor), Chen-Ju Lin (Autor), Schu-Rern Chern (Autor), Yu-Peng Liu (Autor), Yu-Ling Kuo (Autor), Yen-Ni Chen (Autor), Peih-Shan Wu (Autor), Dai-Dyi Town (Autor), Li-Feng Chen (Autor), Chien-Wen Yang (Autor), Wayseen Wang (Autor)
• Médium: Kniha
• Vydáno: Elsevier, 2014-12-01T00:00:00Z.
• Témata: article
• On-line přístup: 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...