Pallister–Killian syndrome

Also known as: Tetrasomy 12p mosaicism

Tissue-limited tetrasomy 12p with coarse facies and hypopigmentation.

Medical specialty: Genetics
Subspecialty: Genetics / Chromosomal disorders
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, congenital
Gene(s) involved: None recorded

Etiology & mechanism

Mosaic isochromosome 12p.

Gene(s) involved (0)

No gene recorded.

Symptoms & signs (6)

coarse faciesdiaphragmatic herniapigmentary skin changesseizuressevere intellectual disabilitysparse hair

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.