High cognitive functioning and behavioral phenotype in Pallister‐Killian syndrome

• Published in: American journal of medical genetics. Part A Vol. 140A; no. 18; pp. 1950 - 1954
• Main Authors: Stalker, Heather J., Gray, B.A., Bent‐Williams, A., Zori, R.T.
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 15.09.2006; Wiley-Liss
• Subjects: Abnormalities, Multiple - diagnosis; Adolescent; autism spectrum disorder; Behavior; Biological and medical sciences; Child clinical studies; Chromosome Aberrations; Chromosomes, Human, Pair 12 - genetics; Chromosomes, Human, Pair 12 - ultrastructure; Cognition Disorders - diagnosis; Developmental disorders; Female; Humans; In Situ Hybridization, Fluorescence; Infantile autism; isochromosome 12p; Isochromosomes - genetics; Medical sciences; Mental Disorders - diagnosis; normal development; Pallister‐Killian; Psychology. Psychoanalysis. Psychiatry; Psychopathology. Psychiatry; Syndrome; Chromosomal aberration; Nervous system diseases; Pallister-Killian; Pallister syndrome; isochromosome 12p; Developmental disorder; Chromosome C12; Cognition; Normal; Isochromosome; Genetic disease; Spectrum; Autism; Phenotype; Malformation; Ulnar mammary syndrome; normal development; Development; Abnormal chromosome; Behavior; Complex syndrome; Neurological disorder; autism spectrum disorder
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.31403

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.