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monosomy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

monosomy

MONDO:0020639

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Overview

A chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number.

Clinical Trials3 registered · 1 recruiting

Diagnosis

Biomarker and diagnostic research for monosomy 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.

3 clinical trials registered, 1 recruiting. Interventions under study include other interventions, drug therapy, and biologic therapy. Pipeline includes 1 PHASE2, 1 NA. Research is primarily sponsored by academic and government institutions.

465 publications have been identified in PubMed for monosomy. Research spans Basic Science / Preclinical (32%), Case Report / Case Series (20%), and Review / Meta-Analysis (15%).

Research Type	Count	% of Total
Laboratory research	149

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 11:21 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

Questions for Your Care Team

→Are any of the 3 active clinical trials a good fit for my situation?
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monosomy

Overview

Diagnosis

Research Landscape

Medical References

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Questions for Your Care Team

Questions for Your Care Team

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