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partial monosomy of the short arm of chromosome X - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

partial monosomy of the short arm of chromosome X

MONDO:0017004

Also known as:partial deletion of chromosome Xppartial deletion of the short arm of chromosome Xpartial monosomy of chromosome Xp

Overview

OnsetINFANTILE

Diagnosis

Biomarker and diagnostic research for partial monosomy of the short arm of chromosome X 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 monosomy of the short arm of chromosome X.

20 publications have been identified in PubMed for partial monosomy of the short arm of chromosome X. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (20%), and Basic Science / Preclinical (15%).

Research Type	Count	% of Total
Patient case studies	10	50%

Data assembled from 3 of 12 sources · Last updated Sep 21, 2026, 6:35 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:263731

GARD

Genetic and Rare Diseases Info Center

GARD:20912

Questions for Your Care Team

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partial monosomy of the short arm of chromosome X

Overview

Diagnosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications