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  Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder

Newbury, D. F., Mari, F., Akha, E. S., MacDermot, K. D., Canitano, R., Monaco, A. P., et al. (2013). Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder. European Journal of Human Genetics, 21, 361-365. doi:10.1038/ejhg.2012.166.

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Item Permalink: https://hdl.handle.net/11858/00-001M-0000-000F-E7F6-0 Version Permalink: https://hdl.handle.net/11858/00-001M-0000-002A-F359-B
Genre: Journal Article

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Newbury, Dianne F1, Author
Mari, Francesca2, 3, Author
Akha, Elham Sadighi1, 4, Author
MacDermot, Kay D5, Author
Canitano, Roberto6, Author
Monaco, Anthony P1, Author
Taylor, Jenny C1, 4, Author
Renieri, Alessandra2, 3, Author
Fisher, Simon E.1, 7, 8, Author           
Knight, Samantha J L1, 4, Author
Affiliations:
1Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK, ou_persistent22              
2Medical Genetics, University of Siena, Siena, Italy, ou_persistent22              
3Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy, ou_persistent22              
4NIHR Biomedical Research Centre, Oxford, UK, ou_persistent22              
5Kennedy Galton Centre (North West Thames Regional Genetic service), Imperial College, London, UK, ou_persistent22              
6Child Neuropsychiatry, Azienda Ospedaliera Universitaria Senese, Siena, Italy, ou_persistent22              
7Language and Genetics Department, MPI for Psycholinguistics, Max Planck Society, ou_792549              
8Donders Institute for Brain, Cognition and Behaviour, External Organizations, ou_55236              

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 Abstract: In this issue, Raca et al1 present two cases of childhood apraxia of speech (CAS) arising from microdeletions of chromosome 16p11.2. They propose that comprehensive phenotypic profiling may assist in the delineation and classification of such cases. To complement this study, we would like to report on a third, unrelated, child who presents with CAS and a chromosome 16p11.2 heterozygous deletion. We use genetic data from this child and his family to illustrate how comprehensive genetic profiling may also assist in the characterisation of 16p11.2 microdeletion syndrome.

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Language(s): eng - English
 Dates: 20122013
 Publication Status: Issued
 Pages: -
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 Table of Contents: -
 Rev. Type: Peer
 Identifiers: DOI: 10.1038/ejhg.2012.166
PMID: 22909776
 Degree: -

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Title: European Journal of Human Genetics
Source Genre: Journal
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Publ. Info: Basel : the official journal of the European Society of Human Genetics; Karger
Pages: - Volume / Issue: 21 Sequence Number: - Start / End Page: 361 - 365 Identifier: -