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Chromosome 15q duplication is a chromosome abnormality that occurs when an extra (duplicate) copy of the genetic material located on the long arm (q) of chromosome 15 is present in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the duplication and which genes are involved. Common features shared by many people with this duplication include developmental delay; intellectual disability; hypotonia (low muscle tone); seizures ; high and/or cleft palate (roof of the mouth); scoliosis ; slow growth; communication difficulties; behavioral problems; and distinctive facial features. Most cases are not inherited, although affected people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.
No clinical trials have been registered for partial duplication of the long arm of chromosome 15.
15 publications have been identified in PubMed for partial duplication of the long arm of chromosome 15. Research spans Case Report / Case Series (47%), Basic Science / Preclinical (27%), and Epidemiology / Natural History (20%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 7 | 47% |
Data assembled from 3 of 12 sources · Last updated Sep 21, 2026, 1:29 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Laboratory research |
4 |
27% |
Disease patterns and progression | 3 | 20% |
Research summaries | 1 | 7% |
Venezia I (2026). [PMID: 41114666](https://pubmed.ncbi.nlm.nih.gov/41114666/). *J Dev Behav Pediatr*. [Epidemiology / Natural History]
Zhang Z (2026). [PMID: 41661187](https://pubmed.ncbi.nlm.nih.gov/41661187/). *Psychiatr Genet*. [Case Report / Case Series]
Cerulli Irelli E (2026). [PMID: 41992447](https://pubmed.ncbi.nlm.nih.gov/41992447/). *Epilepsia Open*. [Epidemiology / Natural History]
Finsterer J (2025). [PMID: 40772177](https://pubmed.ncbi.nlm.nih.gov/40772177/). *Cureus*. [Case Report / Case Series]
Cámara-Domínguez A (2025). [PMID: 39573983](https://pubmed.ncbi.nlm.nih.gov/39573983/). *Clin Pediatr (Phila)*. [Case Report / Case Series]
Lockard T (2025). [PMID: 40683199](https://pubmed.ncbi.nlm.nih.gov/40683199/). *Pediatr Neurol*. [Case Report / Case Series]
Liehr T (2025). [PMID: 40565606](https://pubmed.ncbi.nlm.nih.gov/40565606/). *Genes (Basel)*. [Basic Science / Preclinical]
Aguayo-Orozco TA (2025). [PMID: 40675132](https://pubmed.ncbi.nlm.nih.gov/40675132/). *Cytogenet Genome Res*. [Case Report / Case Series]
Maharjan KK (2025). [PMID: 41268009](https://pubmed.ncbi.nlm.nih.gov/41268009/). *Med J Armed Forces India*. [Epidemiology / Natural History]
Schuy J (2024). [PMID: 39669604](https://pubmed.ncbi.nlm.nih.gov/39669604/). *Genet Med Open*. [Basic Science / Preclinical]