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

Rare Disease

partial duplication of the short arm of chromosome X

MONDO:0017009

Also known as:partial duplication of chromosome Xppartial duplication of the short arm of chromosome type Xpartial trisomy of chromosome Xp

Overview

OnsetCHILDHOOD, CONGENITAL

ResearchLimited published research (8 articles)

Diagnosis

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

8 publications have been identified in PubMed for partial duplication of the short arm of chromosome X. Research spans Case Report / Case Series (63%), Diagnostic / Biomarker (13%), and Clinical Trial Publication (13%).

Recent Publications

Dittrich T (2026). [PMID: 41965835](https://pubmed.ncbi.nlm.nih.gov/41965835/). *Mol Cytogenet*. [Case Report / Case Series]
Wright CA (2025). [PMID: 39924478](https://pubmed.ncbi.nlm.nih.gov/39924478/). *Molecular cytogenetics*. [Case Report / Case Series]
Maeda K (2025). [PMID: 39343574](https://pubmed.ncbi.nlm.nih.gov/39343574/). *Internal medicine (Tokyo, Japan)*. [Case Report / Case Series]
Hartanto AI (2025). [PMID: 40787125](https://pubmed.ncbi.nlm.nih.gov/40787125/). *International medical case reports journal*. [Case Report / Case Series]
Alsalloum A (2025). [PMID: 41440007](https://pubmed.ncbi.nlm.nih.gov/41440007/). *Cells*. [Basic Science / Preclinical]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 4:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:263775

GARD

Genetic and Rare Diseases Info Center

GARD:12421

Questions for Your Care Team

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partial duplication of the short arm of chromosome X

Overview

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team