Pallister-Killian mosaic syndrome with emphasis on the adult phenotype.
We report on a 36-year-old man with profound mental retardation, "coarse" face, and epilepsy. Recognition of the adult phenotype of the Pallister-Killian mosaic syndrome was a prerequisite to directing the cytogenetic analysis.
Quarrell
O W
OW
Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
Hamill
M A
MA
Hughes
H E
HE
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D000782:Aneuploidy; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002881:Chromosomes, Human, Pair 12; D005820:Genetic Testing; D006801:Humans; D008297:Male; D009030:Mosaicism; D010641:Phenotype