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.
authors.affiliation: Program on Neurogenetics, Yale University School of Medicine, USA.
authors.forename: A
authors.initials: A
authors.lastname: Gulhan Ercan-Sencicek
authors.forename: Nicole R
authors.initials: NR
authors.lastname: Davis Wright
authors.forename: Stephen J
authors.initials: SJ
authors.lastname: Frost
authors.forename: Robert K
authors.initials: RK
authors.lastname: Fulbright
authors.forename: Susan
authors.initials: S
authors.lastname: Felsenfeld
authors.forename: Lesley
authors.initials: L
authors.lastname: Hart
authors.forename: Nicole
authors.initials: N
authors.lastname: Landi
authors.forename: W
authors.initials: W
authors.lastname: Einar Mencl
authors.forename: Stephan J
authors.initials: SJ
authors.lastname: Sanders
authors.forename: Kenneth R
authors.initials: KR
authors.lastname: Pugh
authors.forename: Matthew W
authors.initials: MW
authors.lastname: State
authors.forename: Elena L
authors.initials: EL
authors.lastname: Grigorenko
mesh_terms: D000015:Abnormalities, Multiple; D001321:Autistic Disorder; D002648:Child; D025063:Chromosome Disorders; D058674:Chromosome Duplication; D002886:Chromosomes, Human, Pair 17; D006801:Humans; D007806:Language Disorders / Q000209:etiology*; D008297:Male; D010641:Phenotype; D058496:Smith-Magenis Syndrome / Q000150:complications* / Q000235:genetics / Q000503:physiopathology*