Pallister-Killian mosaic syndrome with emphasis on the adult phenotype
- 30 November 1988
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 31 (4) , 841-844
- https://doi.org/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.Keywords
This publication has 3 references indexed in Scilit:
- Mosaic tetrasomy 12p: Four new cases, and confirmation of the chromosomal origin of the supernumerary chromosome in one of the original Pallister‐Mosaic syndrome casesAmerican Journal of Medical Genetics, 1987
- Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister‐Killian syndrome): Report of 11 casesAmerican Journal of Medical Genetics, 1987
- The characteristic physiognomy and tissue specific karyotype distribution in the Pallister‐Killian syndromeClinical Genetics, 1985