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Trisomy 8q is a very rare disorder characterized by duplication of the long arm of chromosome 8. The most commonly associated abnormalities include low birth weight, craniofacial abnormalities (prominent forehead, flat occiput, hypertelorism, upslanting palpebral fissures, ear and nose deformities, thin upper lips), congenital heart defects, skeletal defects, psychomotor retardation. Phenotypic features vary in relation to the duplication size.
Biomarker and diagnostic research for trisomy 8q has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for trisomy 8q.
7 publications have been identified in PubMed for trisomy 8q. Research spans Case Report / Case Series (71%), Diagnostic / Biomarker (14%), and Review / Meta-Analysis (14%).
Jung JH (2026). [PMID: 41486773](https://pubmed.ncbi.nlm.nih.gov/41486773/). *Journal of Yeungnam medical science*. [Case Report / Case Series]
Guazzo R (2025). [PMID: 39708522](https://pubmed.ncbi.nlm.nih.gov/39708522/). *Pathology, research and practice*. [Case Report / Case Series]
León A (2025). [PMID: 41384039](https://pubmed.ncbi.nlm.nih.gov/41384039/). *Frontiers in genetics*. [Case Report / Case Series]
Chen CP (2024). [PMID: 39482005](https://pubmed.ncbi.nlm.nih.gov/39482005/). *Taiwanese journal of obstetrics & gynecology*. [Case Report / Case Series]
Wiedmeier-Nutor JE (2024). [PMID: 39001512](https://pubmed.ncbi.nlm.nih.gov/39001512/). *Cancers*. [Diagnostic / Biomarker]
Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 7:47 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Higashimoto K (2024). [PMID: 38228391](https://pubmed.ncbi.nlm.nih.gov/38228391/). *Journal of medical genetics*. [Case Report / Case Series]