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Article

Searching for Potocki-Lupski syndrome phenotype: a patient with language impairment and no autism.

Brain & development - 1 Sept 2012

Gulhan Ercan-Sencicek A, Davis Wright Nicole R, Frost Stephen J, Fulbright Robert K, Felsenfeld Susan, Hart Lesley, Landi Nicole, Einar Mencl W, Sanders Stephan J, Pugh Kenneth R, State Matthew W, Grigorenko Elena L

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Disorders

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Share to Chromosomes, Human, Pair 17

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Source

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Identifiers

PMID: 22178197
DOI: 10.1016/j.braindev.2011.11.003
PMCID: PMC3343226

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

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Research trail→

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Searching for Potocki-Lupski syndrome phenotype: a patient with language impairment and no autism.PMID 22178197Read ↗

Inherited dup(17)(p11.2p11.2): expanding the phenotype of the Potocki-Lupski syndrome.Semantic proximity Read ↗

Cognitive and behavioral characterization of the Potocki-Lupski syndrome (duplication 17p11.2).Semantic proximity Read ↗

Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome.Semantic proximity Read ↗

Potocki-Lupski syndrome: an inherited dup(17)(p11.2p11.2) with hypoplastic left heart.Semantic proximity Read ↗

Does the Potocki-Lupski Syndrome Convey the Autism Spectrum Disorder Phenotype? Case Report and Scoping ReviewSemantic proximity Read ↗

Duplication 17p11.2 (Potocki-Lupski Syndrome) in a child with developmental delay.Semantic proximity Read ↗

Clinical and cytogenetic features of a Potocki-Lupski syndrome with the shortest 0.25Mb microduplication in 17p11.2 including RAI1.Semantic proximity Read ↗

The severe end of the spectrum: Hypoplastic left heart in Potocki‐Lupski syndromeSemantic proximity Read ↗

Language and communication deficits in Chromosome 16p11.2 Deletion SyndromeSemantic proximity Read ↗

Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome.Semantic proximity Read ↗

Characterization of speech and language phenotype in the 8p23.1 syndrome.Semantic proximity Read ↗

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