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partial segmental duplication - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

partial segmental duplication

MONDO:0700130

Also known as:segmental duplicationpartial trisomy 21

Find Clinical TrialsTrials

Overview

A chromosomal disorder consisting of the partial duplication of chromosome 21.

Clinical Trials1 registered · 1 recruiting

Diagnosis

Biomarker and diagnostic research for partial segmental duplication 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.

1 clinical trial registered, 1 recruiting. Interventions under study include drug therapy. Pipeline includes 1 PHASE2. Research is primarily sponsored by academic and government institutions.

128 publications have been identified in PubMed for partial segmental duplication. Research spans Basic Science / Preclinical (90%), Diagnostic / Biomarker (3%), and Review / Meta-Analysis (3%).

Research Type	Count	% of Total
Laboratory research	115	90%

Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 1:50 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

Questions for Your Care Team

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partial segmental duplication

Overview

Diagnosis

Research Landscape

Medical References

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications