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.

@article{Chen2011DeND,
  title={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.},
  author={Chih-Ping Chen and Y. -Y. Su and Hung-Hung Lin and S C Chern and Fuu-Jen Tsai and Pei-Chen Wu and Chen-Chi Lee and Yu-Ting Chen and Wayseen Wang},
  journal={Taiwanese journal of obstetrics & gynecology},
  year={2011},
  volume={50 3},
  pages={339-44}
}
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 retardation, short stature, low body weight, general muscle hypotonia, distal muscle hypotrophy of the lower extremities, elongated digits, scanty pubic and axillary hair, hypoplastic external female genitalia… CONTINUE READING