Microphthalmia and chorioretinal lesions in a girl with an Xp22.2-pter deletion and partial 3p trisomy: clinical observations relevant to Aicardi syndrome gene localization.

@article{Donnenfeld1990MicrophthalmiaAC,
  title={Microphthalmia and chorioretinal lesions in a girl with an Xp22.2-pter deletion and partial 3p trisomy: clinical observations relevant to Aicardi syndrome gene localization.},
  author={Alan E. Donnenfeld and J. M. Graham and Roger J. Packer and R. C. Aquino and Suzan Z Berg and Beverly S Emanuel},
  journal={American journal of medical genetics},
  year={1990},
  volume={37 2},
  pages={182-6}
}
We present a 4-year-old girl with a maternally derived, unbalanced X;3 translocation resulting in partial Xp monosomy and partial 3p trisomy. She had chorioretinal defects, developmental delay, infantile seizures, and microphthalmia. These findings initially suggested a diagnosis of Aicardi syndrome. However, she had a normal-appearing corpus callosum on CT and magnetic resonance imaging scans of the brain and her retinal findings were not typical for Aicardi syndrome. This represents the 6th… CONTINUE READING