15 inversion duplication syndrome
Evidence-based neurology checklist on 15 inversion duplication syndrome: Genetics This is caused by inversion duplication of the proximal chromosome 15 This results in tetrasomy 15p and partial tetrasomy 15q It is the most common human supernumerary marker chromosome (SMC) Chromosome 15…
Genetics
- This is caused by inversion duplication of the proximal chromosome 15
- This results in tetrasomy 15p and partial tetrasomy 15q
- It is the most common human supernumerary marker chromosome (SMC)
- Chromosome 15 rearrangements also cause Angelman and Prader-Willi syndromes
Developmental features
Seizure types
Autistic features
Stereotypies
Other features
Treatment
Synonym
References
- Battaglia A. The inv dup (15) or idic (15) syndrome (Tetrasomy 15q). Orphanet J Rare Dis 2008; 3:30.
- Battaglia A. The inv dup(15) or idic(15) syndrome: a clinically recognisable neurogenetic disorder. Brain Dev 2005; 27:365-369.
- Battaglia A, Bernardini L, Torrente I, Novelli A, Scarselli G. Spectrum of epilepsy and electroencephalogram patterns in idic (15) syndrome. Am J Med Genet A 2016; 170:2531-2539.
- Matricardi S, Darra F, Spalice A, et al. Electroclinical findings and long-term outcomes in epileptic patients with inv dup (15). Acta Neurol Scand 2018; doi: 10.1111/ane.12902 (Epub ahead of print).
- Takeda Y, Baba A, Nakamura F, Ito M, Honma H, Koyama T. Symptomatic generalized epilepsy associated with an inverted duplication of chromosome 15. Seizure 2000; 9:145-150.
Related checklists
- Epilepsy and chromosomal disorders: classification
- Angelman syndrome
- Alfi syndrome
- Miller Dieker syndrome
- Patau syndrome
- Williams Beuren syndrome (WBS)
- Wolf-Hirschhorn syndrome
- 1p36 monosomy
- 1q deletion syndrome
- 2p deletion syndrome
- 2q deletion syndrome
- 3p deletion syndrome
- 6q terminal deletion syndrome
- 15q13.3 microdeletion syndrome
- 18q deletion syndrome
- Fragile X syndrome
- Ring 14 chromosome
- Ring 20 chromosome
- Trisomy 12p
