There are multiple definitions:
Pallister Killian syndrome(English)
- a rare, sporadic disorder defined by a characteristic dysmorphic face, pigmentary skin anomalies, intellectual disability, hypotonia, and seizures caused by 12p tetrasomy due to an extra isochromosome 12p. Features rarely reported include marked excess of hair on the forehead and ears in the first months of life, a particular eye disorder (abnormal iris color with pointed pupil), connective tissue defects, repeated episodes of infection and autonomic dysfunction, endocrine malfunction as a possible cause of postnatal growth deficit, more complex sensory impairments, and mild early myoclonic jerks. MLPA or array CGH using DNA extracted from a buccal swab is a reliable method of diagnosis
- CGH, MLPA, sSMC
- Genetics, Endocrinology, Neuropathy, Dermatology, Congenital disorders, Ophthalmology
- https://doi.org…0/genes12060811
polyketide synthase(English)