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partial deletion of chromosome X - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

partial deletion of chromosome X

MONDO:0017003

Also known as:partial deletion of chromosome type Xpartial monosomy of chromosome X

Overview

Diagnosis

Biomarker and diagnostic research for partial deletion 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 deletion of chromosome X.

109 publications have been identified in PubMed for partial deletion of chromosome X. Research spans Case Report / Case Series (39%), Basic Science / Preclinical (37%), and Review / Meta-Analysis (10%).

Research Type	Count	% of Total
Patient case studies	42	39%

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 11:17 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:263726

GARD

Genetic and Rare Diseases Info Center

GARD:20911

Questions for Your Care Team

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partial deletion 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