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partial deletion of the long arm of chromosome 17 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

partial deletion of the long arm of chromosome 17

MONDO:0016915

Also known as:partial deletion of chromosome 17qpartial deletion of the long arm of chromosome type 17partial monosomy of chromosome 17q

Overview

OnsetCONGENITAL

Diagnosis

Biomarker and diagnostic research for partial deletion of the long arm of chromosome 17 has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for partial deletion of the long arm of chromosome 17.

11 publications have been identified in PubMed for partial deletion of the long arm of chromosome 17. Research spans Case Report / Case Series (36%), Review / Meta-Analysis (27%), and Epidemiology / Natural History (27%).

Research Type	Count	% of Total
Patient case studies	4	36%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 9:49 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:262137

GARD

Genetic and Rare Diseases Info Center

GARD:20836

Questions for Your Care Team

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partial deletion of the long arm of chromosome 17

Overview

Diagnosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications