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

Brain Dev. 2012 Sep;34(8):700-3. doi: 10.1016/j.braindev.2011.11.003. Epub 2011 Dec 16.


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.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple
  • Autistic Disorder
  • Child
  • Chromosome Disorders
  • Chromosome Duplication
  • Chromosomes, Human, Pair 17
  • Humans
  • Language Disorders / etiology*
  • Male
  • Phenotype
  • Smith-Magenis Syndrome / complications*
  • Smith-Magenis Syndrome / genetics
  • Smith-Magenis Syndrome / physiopathology*

Supplementary concepts

  • Potocki-Lupski syndrome