Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features.

@article{Pescucci2003Chromosome2D,
  title={Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features.},
  author={Chiara Pescucci and Ilaria Meloni and Mirella Bruttini and Francesca Ariani and Ilaria Longo and Francesca Mari and Roberto Canitano and Giuseppe Hayek and Michele Zappella and Alessandra Renieri},
  journal={Clinical genetics},
  year={2003},
  volume={64 6},
  pages={
          497-501
        }
}
We present here a unique case of a 14-year-old female with autism and some features similar to Rett syndrome (RTT). Genetic analysis demonstrated a large deletion of chromosome 2q instead of a MECP2 mutation. Like a Rett patient, she is dyspraxic and shows frequent hand-washing stereotypic activities, hyperpnea, and bruxism. Like a preserved speech variant (PSV) of RTT, she is obese, able to speak in second and third persons, frequently echolalic, and has final normal head circumference and… CONTINUE READING

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