High cognitive functioning and behavioral phenotype in Pallister-Killian syndrome

Authors

  • Heather J. Stalker,

    Corresponding author
    1. Division of Pediatrics Genetics, University of Florida, Gainesville, Florida
    2. Raymond C. Philips Unit, University of Florida, Gainesville, Florida
    3. Craniofacial Center, University of Florida, Gainesville, Florida
    • Pediatrics Genetics, Box 100296, Gainesville, FL 32610.
    Search for more papers by this author
  • B.A. Gray,

    1. Division of Pediatrics Genetics, University of Florida, Gainesville, Florida
    2. Raymond C. Philips Unit, University of Florida, Gainesville, Florida
    Search for more papers by this author
  • A. Bent-Williams,

    1. Division of Pediatrics Genetics, University of Florida, Gainesville, Florida
    2. Raymond C. Philips Unit, University of Florida, Gainesville, Florida
    Search for more papers by this author
  • R.T. Zori

    1. Division of Pediatrics Genetics, University of Florida, Gainesville, Florida
    2. Raymond C. Philips Unit, University of Florida, Gainesville, Florida
    Search for more papers by this author

  • How to cite this article: Stalker HJ, Gray BA, Bent-Williams A, Zori RT. 2006. High cognitive functioning and behavioral phenotype in Pallister-Killian syndrome. Am J Med Genet Part A 140A:1950–1954.

Abstract

Pallister-Killian syndrome (PKS) is a rare syndrome of multiple congenital anomalies attributable to the presence of a mosaic supernumerary isochromosome 12p. The syndrome presents with a recognizable pattern of findings including: pigmentary skin changes, characteristic facial features (sparse anterior scalp hair, flattened midface, macrostomia, and coarsening of the facial features), and developmental delay. The developmental phenotype of PKS is quite variable, but most are considered to fall into the profound range of developmental retardation. We report on an individual with classical features of PKS with development significantly better than that reported in the literature. Developmental and behavioral testing in this individual alters the range of developmental expectation in PKS, and highlights the need for consideration of chromosomal analysis in individuals with normal or near-normal intelligence if other physical phenotypic features of PKS are present. © 2006 Wiley-Liss, Inc.

Ancillary