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Searching for Potocki-Lupski syndrome phenotype

Title: Searching for Potocki-Lupski syndrome phenotype: a patient with language impairment and no autism.
Name(s): Gulhan Ercan-Sencicek, A, author
Davis Wright, Nicole R, author
Frost, Stephen J, author
Fulbright, Robert K, author
Felsenfeld, Susan, author
Hart, Lesley, author
Landi, Nicole, author
Einar Mencl, W, author
Sanders, Stephan J, author
Pugh, Kenneth R, author
State, Matthew W, author
Grigorenko, Elena L, author
Type of Resource: text
Genre: Text
Date Issued: 2012-09-01
Physical Form: computer
online resource
Extent: 1 online resource
Language(s): English
Abstract/Description: 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.
Identifier: FSU_pmch_22178197 (IID), 10.1016/j.braindev.2011.11.003 (DOI), PMC3343226 (PMCID), 22178197 (RID), 22178197 (EID), S0387-7604(11)00309-3 (PII)
Grant Number: DC007665, HD048830, HD052120, P01 HD001994-42S1, P01HD001994, P50 HD052120, P50 HD052120-05, R01 DC007665, R01 DC007665-05, R01 HD048830, R01 HD048830-05
Publication Note: This NIH-funded author manuscript originally appeared in PubMed Central at
Subject(s): Abnormalities, Multiple
Autistic Disorder
Chromosome Disorders
Chromosome Duplication
Chromosomes, Human, Pair 17
Language Disorders/etiology
Smith-Magenis Syndrome/complications
Smith-Magenis Syndrome/genetics
Smith-Magenis Syndrome/physiopathology
Persistent Link to This Record:
Host Institution: FSU
Is Part Of: Brain & development.
Issue: iss. 8, vol. 34

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Gulhan Ercan-Sencicek, A., Davis Wright, N. R., Frost, S. J., Fulbright, R. K., Felsenfeld, S., Hart, L., … Grigorenko, E. L. (2012). Searching for Potocki-Lupski syndrome phenotype: a patient with language impairment and no autism. Brain & Development. Retrieved from