Trisomy 12p

Evidence-based neurology checklist on trisomy 12p: Genetics This is caused by translocation of chromosome 12p It is usually familial but some arise de novo Seizure types Craniofacial dysmorphism Skeletal deformities Other features Magnetic resonance imaging (MRI) brain: features

Genetics

  • This is caused by translocation of chromosome 12p
  • It is usually familial but some arise de novo

Seizure types

Craniofacial dysmorphism

Skeletal deformities

Other features

Magnetic resonance imaging (MRI) brain: features

References

  1. Sorge G, Sorge A. Epilepsy and chromosomal abnormalities. Ital J Pediatr 2010; 36:36. 
  2. Battaglia A, Guerrini R. Chromosomal disorders associated with epilepsy. Epileptic Disord 2005; 7:181-192.

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