14q12q13.3 Deletion Diagnosed Using Chromosomal Microarray Analysis in an Infant Showing Seizures, Hypoplasia of the Corpus Callosum, and Developmental Delay

• 主要な著者: Jae Hyuk Kwon (著者), Young Hwa Song (著者), Jung Min Yoon (著者), Eun Jung Cheon (著者), Kyung Ok Ko (著者), Jae Woo Lim (著者), Hyon J. Kim (著者)
• フォーマット: 図書
• 出版事項: Korean Society of Neonatology, 2020-11-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

14q12q13.3 Deletion is a rare microdeletion syndrome associated with neurodevelopmental delay, failure to thrive, seizures, and abnormal brain development. Symptoms vary depending on the sites of gene deletion, and establishing the diagnosis is often difficult, as the condition cannot be detected wi...