Synonyms: Isochromosome 12p mosaicism | Isochromosome 12p syndrome | Pallister-Killian syndrome
Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2026
Newly diagnosed with
Tetrasomy 12p?
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Advocacy Organizations
Genetic Epilepsy Team Australia
Collaboration of research and care
Rare Chromosome Disorder Support Group – Unique
Through sharing knowledge and lived experience, Unique helps families and professionals navigate the world of chromosome and gene disorders
Rare Epilepsy Network (REN)
Improving outcomes of people with rare epilepsies through an innovative collaborative infrastructure that drives urgent, patient-centered research, educaiton and advocacy.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.