Cerebral X-linked adrenoleukodystrophy in a girl with Xq27-Ter deletion.

@article{Hershkovitz2002CerebralXA,
  title={Cerebral X-linked adrenoleukodystrophy in a girl with Xq27-Ter deletion.},
  author={Eli Hershkovitz and Ginat Narkis and Zamir Shorer and Ann Moser and Paul A. Watkins and Hugo W. Moser and Esther Manor},
  journal={Annals of neurology},
  year={2002},
  volume={52 2},
  pages={234-7}
}
An 8.5-year-old girl with a pathogenic mutation (515insC) of the ATP-binding cassette, subfamily D, member 1 gene (ABCD1) on her maternally derived X chromosome showed clinical, biochemical, and magnetic resonance imaging abnormalities similar to those in affected males. Cytogenetic studies led to the surprise finding of a de novo deletion of Xq27 on the… CONTINUE READING