Searching for Potocki–Lupski syndrome phenotype: A patient with language impairment and no autism

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

doi:10.1016/j.braindev.2011.11.003

Searching for Potocki–Lupski syndrome phenotype: A patient with language impairment and no autism

A Gulhan Ercan-Sencicek, Nicole R Davis Wright + Show 10 more

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https://doi.org/10.1016/j.braindev.2011.11.003

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Journal: Brain and Development	Publication Date: Dec 16, 2011
Citations: 23

Affiliation: Yale University, Haskins Laboratories, Southern Connecticut State University, University of Connecticut, Columbia University

#Potocki Lupski Syndrome #Language Impairment + Show 8 more

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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.

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