Tetrasomy 12p

Definition

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

Also known as Isochromosome 12p mosaicism, Isochromosome 12p syndrome, Pallister Killian Mosaic Syndrome, Pallister-Killian syndrome, Pallister-Killian syndrome, Somatic mosaicism, tetrasomy type 12p — per MONDO

Also identified as

• ICD9 758.81 per MONDO
• MESH C538105 per MONDO
• NCIT C75458 per MONDO
• OMIM 601803 per MONDO
• Orphanet 884 per MONDO
• SCTID 9527009 per MONDO
• UMLS C0265449 per MONDO