Molecular cytogenetic characterization of Xp22.32→pter deletion and Xq26.3→qter duplication in a male fetus associated with 46,Y,rec(X)dup(Xq) inv(X)(p22.3q26.3), a hypoplastic left heart, short stature, and maternal X chromosome pericentric inversion

• Glavni autori: Chih-Ping Chen (Autor), Chen-Yu Chen (Autor), Schu-Rern Chern (Autor), Peih-Shan Wu (Autor), Yen-Ni Chen (Autor), Shin-Wen Chen (Autor), Chen-Chi Lee (Autor), Dai-Dyi Town (Autor), Meng-Shan Lee (Autor), Chien-Wen Yang (Autor), Wayseen Wang (Autor)
• Format: Knjiga
• Izdano: Elsevier, 2016-10-01T00:00:00Z.
• Teme: article
• Online pristup: Connect to this object online.

Objective: We present molecular cytogenetic characterization of an Xp22.32→pter deletion and an Xq26.3→qter duplication in a male fetus with congenital malformations and maternal X chromosome pericentric inversion. Materials and Methods: A 22-year-old woman underwent amniocentesis at 17 weeks of ges...