Pallister-Killian syndrome (PKS): neurological features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Pallister-Killian syndrome (PKS): neurological features. This is caused by an extra chromosome 12p. Fully referenced neurology checklist.
Genetics
- This is caused by an extra chromosome 12p
- This is mosaic tetrasomy 12p
- It is sporadic
Developmental features
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Dysmorphic features
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Epilepsy: types
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Magnetic resonance imaging (MRI) brain: features
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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).
