X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27.

@article{Christianson1999XLS,
  title={X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27.},
  author={Arnold L. Christianson and Roger E Stevenson and Cornelius H van der Meyden and J Pelser and F W Theron and Pierre van Rensburg and Michael Chandler and Charles E. Schwartz},
  journal={Journal of medical genetics},
  year={1999},
  volume={36 10},
  pages={759-66}
}
To date over 150 X linked mental retardation (XLMR) conditions have been documented. We describe a five generation South African family with XLMR, comprising 16 affected males and 10 carrier females. The clinical features common to the 16 males included profound mental retardation (100%), mutism despite apparently normal hearing (100%), grand mal epilepsy (87.5%), and limited life expectancy (68.8%). Of the four affected males examined, all had mild craniofacial dysmorphology and three were… CONTINUE READING