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Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties

Mary Glancy1, Angela Barnicoat, Rajan Vijeratnam

  • 1North East London Regional Cytogenetics Laboratory, Great Ormond Street Hospital NHS Trust, London, UK. glancm@gosh.nhs.uk

European Journal of Human Genetics : EJHG
|August 22, 2008
PubMed
Summary

A duplication on chromosome 8p was identified in a child with autism and speech delay and in his mother with epilepsy. This genetic finding highlights potential links between 8p duplications and neurodevelopmental disorders.

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