Optic atrophy, microcephaly, mental retardation and mosaic variegated aneuploidy: a human mitotic mutation.

@article{Bitoun1994OpticAM,
  title={Optic atrophy, microcephaly, mental retardation and mosaic variegated aneuploidy: a human mitotic mutation.},
  author={Pierre Bitoun and Brigitte Martin-Pont and E. Tamboise and Jo{\"e}l Gaudelus},
  journal={Annales de genetique},
  year={1994},
  volume={37 2},
  pages={75-7}
}
A 12-year-old girl presents with optic atrophy, pale papilla, amblyopia and microcephaly (-3 s.d.) with mild mental retardation and facial dysmorphism. She had mitral insufficiency with mitral prolapse and moderate short stature (-2.5 d.s.). She had normal flash visual evoked potentials, normal electroretinograms and electrooculograms and normal cranial CT scan as well as other lab tests to rule out malformations, tumors or multiple sclerosis. Her lymphocyte karyotype showed a variegated… CONTINUE READING
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