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 rearrangements also cause Angelman and Prader-Willi syndromes

References

1. Battaglia A. The inv dup (15) or idic (15) syndrome (Tetrasomy 15q). Orphanet J Rare Dis 2008; 3:30. 
2. Battaglia A. The inv dup(15) or idic(15) syndrome: a clinically recognisable neurogenetic disorder. Brain Dev 2005; 27:365-369. 
3. 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. 
4. 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).
5. Benítez-Provedo C, García-Fernández M, Gutiérrez-Delicado E, et al. Epileptic and developmental encephalopathy secondary to inversion-duplication of chromosome 15: Description of epilepsy characteristics and therapeutic outcomes. Epilepsia 2026; 67:4121-4138.
6. And 1 more. Subscribe to see the full list

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