Pallister-Killian Mosaic Syndrome

Pallister-Killian Mosaic Syndrome

Pallister-Killian mosaic syndrome is a rare genetic disorder caused by the presence of an extra isochromosome 12p. Symptoms of Pallister-Killian mosaic syndrome include severe intellectual disability, distinctive facial features, and a range of congenital anomalies. Diagnosis of Pallister-Killian mosaic syndrome is typically confirmed through genetic testing.