Pallister-Killian syndrome is a dysmorphic condition characterized by tissue-limited mosaicism; most fibroblast have 47 chromosomes with an extra small metacentric chromosome, whereas the karyotype of lymphocytes is normal. Clinical presentation of PKS includes profound mental retardation, seizures and facial abnormalities. The mechanism and parental origin of extra chromosome i(12)(p10) are unknown.
|Number of pages||3|
|Journal||Italian Journal of Pediatrics|
|Publication status||Published - Apr 2003|
- Facial abnormalities
- Profound mental retardation
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health