Searching for Potocki–Lupski syndrome phenotype: A patient with language impairment and no autism
Resource type
Authors/contributors
- Ercan-Sencicek, A. Gulhan (Author)
- Wright, Nicole R. Davis (Author)
- Frost, Stephen J. (Author)
- Fulbright, Robert K. (Author)
- Felsenfeld, Susan (Author)
- Hart, Lesley (Author)
- Landi, Nicole (Author)
- Mencl, W. Einar (Author)
- Sanders, Stephan J. (Author)
- Pugh, Kenneth R. (Author)
- State, Matthew W. (Author)
- Grigorenko, Elena L. (Author)
Title
Searching for Potocki–Lupski syndrome phenotype: A patient with language impairment and no autism
Abstract
Potocki-Lupski syndrome (PTLS; OMIM 610883) is a genomic syndrome that arises as a result of a duplication of 17p11.2. Although numerous cases of individuals with PTLS have been presented in the literature, its behavioral characterization is still ambiguous. We present a male child with a de novo dup(17)(p11.2p11.2) and he does not possess any autistic features, but is characterized by severe speech and language impairment. In the context of the analyses of this patient and other cases of PTLS, we argue that the central feature of the syndrome appears to be related to diminished speech and language capacity, rather than the specific social deficits central to autism. © 2011.
Publication
Brain & Development
Date
2011-12-16, December 2011
Volume
34
Issue
8
Pages
700-703
Journal Abbr
Brain Dev.
Citation Key
URL
ISSN
03877604 (ISSN)
Language
English
Extra
10 citations (Crossref) [2023-10-31]
Citation Key Alias: pop00090
tex.type: [object Object]
Citation
Ercan-Sencicek, A. G., Wright, N. R. D., Frost, S. J., Fulbright, R. K., Felsenfeld, S., Hart, L., Landi, N., Mencl, W. E., Sanders, S. J., Pugh, K. R., State, M. W., & Grigorenko, E. L. (2011). Searching for Potocki–Lupski syndrome phenotype: A patient with language impairment and no autism. Brain & Development, 34(8), 700–703. https://doi.org/10.1016/j.braindev.2011.11.003
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