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Tetrasomy 12p

Disease definition

Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p.


Classification level: Disorder
  • Synonym(s):
    • Isochromosome 12p mosaicism
    • Isochromosome 12p syndrome
    • Pallister-Killian syndrome
  • Prevalence: Unknown
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q99.8
  • ICD-11: LD7Y
  • OMIM: 601803
  • UMLS: C0265449
  • MeSH: C538105
  • GARD: 8421
  • MedDRA: 10080297

Detailed information

General public

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