• 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

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.

Original languageEnglish
Pages (from-to)700-703
Number of pages4
JournalBrain and Development
Volume34
Issue number8
DOIs
StatePublished - Sep 2012

    Research areas

  • 17p11.2, Inv(8)(q21.3-q24.1), Language and speech impairment, Potocki-Lupski syndrome

    Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Clinical Neurology

ID: 87390683