Pallister-Killian syndrome (PKS): neurological features
Evidence-based neurology checklist on pallister-killian syndrome (pks): neurological features: Genetics This is caused by an extra chromosome 12p This is mosaic tetrasomy 12p It is sporadic Developmental features Dysmorphic features Epilepsy: types Magnetic resonance imaging (MRI) brain: features
Genetics
- This is caused by an extra chromosome 12p
- This is mosaic tetrasomy 12p
- It is sporadic
Developmental features
Dysmorphic features
Epilepsy: types
Magnetic resonance imaging (MRI) brain: features
References
- Izumi K, Krantz ID. Pallister-Killian syndrome. Am J Med Genet C Semin Med Genet 2014; 166C:406-413.
- Blyth M, Maloney V, Beal S, et al. Pallister-Killian syndrome: a study of 22 British patients. J Med Genet 2015; 52:454-464.
- Poulton C, Baynam G, Yates C, et al. A review of structural brain abnormalities in Pallister-Killian syndrome. Mol Genet Genomic Med 2018; 6:92-98.
- Barkovich EJ, Lateef TM, Whitehead MT. Neuroimaging findings in Pallister-Killian syndrome. Neuroradiol J 2017; 1971400917744798 (Epub ahead of print).
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