Pallister-Killian mosaic syndrome with emphasis on the adult phenotype

O W Quarrell; M A Hamill; H E Hughes

doi:10.1002/ajmg.1320310417

Pallister-Killian mosaic syndrome with emphasis on the adult phenotype

Am J Med Genet. 1988 Dec;31(4):841-4. doi: 10.1002/ajmg.1320310417.

Authors

O W Quarrell¹, M A Hamill, H E Hughes

Affiliation

¹ Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.

PMID: 3239576
DOI: 10.1002/ajmg.1320310417

Abstract

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.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics
Adult
Aneuploidy
Chromosome Aberrations*
Chromosome Disorders*
Chromosomes, Human, Pair 12*
Genetic Testing
Humans
Male
Mosaicism
Phenotype*