De novo duplication of Xq22.1→q24 with a disruption of the NXF gene cluster in a mentally retarded woman with short stature and premature ovarian failure

• Main Authors: Chih-Ping Chen (Author), Yi-Ning Su (Author), Hung-Hung Lin (Author), Schu-Rern Chern (Author), Fuu-Jen Tsai (Author), Pei-Chen Wu (Author), Chen-Chi Lee (Author), Yu-Ting Chen (Author), Wayseen Wang (Author)
• Format: Book
• Published: Elsevier, 2011-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective: To present molecular cytogenetic characterization of a de novo duplication of Xq22.1→q24 in a mentally retarded woman with short stature and premature ovarian failure. Materials and Methods: A 19-year-old woman presented with psychomotor retardation, developmental delay, mental retardatio...