Copy Number Variation Screen Identifies a Rare De Novo Deletion at Chromosome 15q13.1-13.3 in a Child with Language Impairment

@inproceedings{Pettigrew2015CopyNV,
  title={Copy Number Variation Screen Identifies a Rare De Novo Deletion at Chromosome 15q13.1-13.3 in a Child with Language Impairment},
  author={Kerry A. Pettigrew and Emily Reeves and Ruth Leavett and Marianna E. Hayiou-Thomas and Anahita Sharma and Nuala H. Simpson and Angela Martinelli and Paul Thompson and Charles Hulme and Margaret J Snowling and Dianne F. Newbury and Silvia Paracchini and Bert De Smedt},
  booktitle={PloS one},
  year={2015}
}
A significant proportion of children (up to 7% in the UK) present with pronounced language difficulties that cannot be explained by obvious causes like other neurological and medical conditions. A substantial genetic component is predicted to underlie such language problems. Copy number variants (CNVs) have been implicated in neurodevelopmental and psychiatric conditions, such as autism and schizophrenia, but it is not fully established to what extent they might contribute to language disorders… CONTINUE READING