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Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features.
Biomarker and diagnostic research for trisomy 17p has been reported in the published literature.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for trisomy 17p.
6 publications have been identified in PubMed for trisomy 17p. Research spans Diagnostic / Biomarker (33%), Epidemiology / Natural History (33%), and Case Report / Case Series (17%).
van Eekhout JCA (2025). [PMID: 40913805](https://pubmed.ncbi.nlm.nih.gov/40913805/). *Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology*. [Clinical Trial Publication]
Azhdari S (2025). [PMID: 41445900](https://pubmed.ncbi.nlm.nih.gov/41445900/). *South Asian journal of cancer*. [Epidemiology / Natural History]
Xia C (2025). [PMID: 40149404](https://pubmed.ncbi.nlm.nih.gov/40149404/). *Genes*. [Diagnostic / Biomarker]
Ando H (2025). [PMID: 39720290](https://pubmed.ncbi.nlm.nih.gov/39720290/). *DEN open*. [Case Report / Case Series]
Mohamed AM (2025). [PMID: 40074450](https://pubmed.ncbi.nlm.nih.gov/40074450/). *Journal, genetic engineering & biotechnology*. [Diagnostic / Biomarker]
Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 7:12 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Pianko MJ (2025). [PMID: 40650954](https://pubmed.ncbi.nlm.nih.gov/40650954/). *Future science OA*. [Epidemiology / Natural History]