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.
High cognitive functioning and behavioral phenotype in Pallister-Killian syndrome†
Article first published online: 11 AUG 2006
Copyright © 2006 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 140A, Issue 18, pages 1950–1954, 15 September 2006
How to Cite
Stalker, H. J., Gray, B.A., Bent-Williams, A. and Zori, R.T. (2006), High cognitive functioning and behavioral phenotype in Pallister-Killian syndrome. Am. J. Med. Genet., 140A: 1950–1954. doi: 10.1002/ajmg.a.31403
- Issue published online: 18 AUG 2006
- Article first published online: 11 AUG 2006
- Manuscript Accepted: 19 JUN 2006
- Manuscript Received: 21 NOV 2005
- isochromosome 12p;
- normal development;
- autism spectrum disorder
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.