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Journal Article

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

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Fisher,  Simon E.
Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK;
Language and Genetics Department, MPI for Psycholinguistics, Max Planck Society;
Donders Institute for Brain, Cognition and Behaviour, External Organizations;

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Fulltext (public)

Newbury_ejhg_2013.pdf
(Publisher version), 707KB

Supplementary Material (public)

Supplementary Table 1 _Newbury_EJHG_2012.doc
(Supplementary material), 57KB

Citation

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.


Cite as: http://hdl.handle.net/11858/00-001M-0000-000F-E7F6-0
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.