| Searching for Potocki-Lupski syndrome phenotype: A patient with language impairment and no autism. | |
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MedLine Citation:
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PMID: 22178197 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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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. |
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Authors:
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A Gulhan Ercan-Sencicek; Nicole R Davis Wright; Stephen J Frost; Robert K Fulbright; Susan Felsenfeld; Lesley Hart; Nicole Landi; W Einar Mencl; Stephan J Sanders; Kenneth R Pugh; Matthew W State; Elena L Grigorenko |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-12-15 |
Journal Detail:
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Title: Brain & development Volume: - ISSN: 1872-7131 ISO Abbreviation: - Publication Date: 2011 Dec |
Date Detail:
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Created Date: 2011-12-19 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7909235 Medline TA: Brain Dev Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Published by Elsevier B.V. |
Affiliation:
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Program on Neurogenetics, Yale University School of Medicine, USA; Child Study Center, Yale University School of Medicine, USA; Department of Genetics, Yale University School of Medicine, USA. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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