1p36 monosomy
Evidence-based neurology checklist on 1p36 monosomy: Developmental abnormalities Mental retardation Growth delay Precocious puberty Epilepsy Craniofacial dysmorphism Skeletal anomalies Other clinical features Magnetic resonance imaging (MRI) brain: features Electroencephalogram (EEG): features
Developmental abnormalities
- Mental retardation
- Growth delay
- Precocious puberty
Epilepsy
Craniofacial dysmorphism
Skeletal anomalies
Other clinical features
Magnetic resonance imaging (MRI) brain: features
Electroencephalogram (EEG): features
References
- Sorge G, Sorge A. Epilepsy and chromosomal abnormalities. Ital J Pediatr 2010; 36:36.
- Battaglia A, Guerrini R. Chromosomal disorders associated with epilepsy. Epileptic Disord 2005; 7:181-192.
- Kurosawa K, Kawame H, Okamoto N, et al. Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome. Brain Dev 2005; 27:378-382.
Related checklists
- Epilepsy and chromosomal disorders: classification
- Angelman syndrome
- Alfi syndrome
- Miller Dieker syndrome
- Patau syndrome
- Williams Beuren syndrome (WBS)
- Wolf-Hirschhorn syndrome
- 1q deletion syndrome
- 2p deletion syndrome
- 2q deletion syndrome
- 3p deletion syndrome
- 6q terminal deletion syndrome
- 15 inversion duplication syndrome
- 15q13.3 microdeletion syndrome
- 18q deletion syndrome
- Fragile X syndrome
- Ring 14 chromosome
- Ring 20 chromosome
- Trisomy 12p
