Article
Pallister-Killian Syndrome (PKS) as a Cause of Mental Retardation.
Klinische Padiatrie - 1 Jan 2000
Shamdeen A, Meyer S, Gottschling S, Oehl-Jaschkowitz B, Gortner L, Shamdeen M G
Abstract excerpt
Pallister-Killian syndrome (PKS; OMIM: # 601803) is a rare sporadic syndrome of multiple congenital anomalies attributable to the presence of a de novo mosaic supernumerary isochromosome 12p [i(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...
Topics
- Abnormalities, Multiple
- Aneuploidy
- Child
- Chromosome Aberrations
- Chromosome Banding
- Chromosomes, Human, Pair 12
- Female
- Genotype
- Humans
- In Situ Hybridization, Fluorescence
- Infant
- Intellectual Disability
- Isochromosomes
- Karyotyping
- Male
- Mosaicism
- Phenotype
- Syndrome