Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 associated with congenital hypoplasia of the tongue and review of the literature

• 主要な著者: Hui-Yuan Shao (著者), Zong-Yu Miao (著者), Xiao-Yan Liu (著者), Xiao-Fei Hou (著者), Hong Wu (著者)
• フォーマット: 図書
• 出版事項: Elsevier, 2020-03-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Objective: To present molecular cytogenetic characterization of mosaic supernumerary ring chromosome 8 which has trisomy of a region of chromosome 8p12-q21.13 associated with congenital hypoplasia of the tongue and review of the literature. Case report: A 27 year-old woman presented with congenital...