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unbalanced Robertsonian translocation Down syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

unbalanced Robertsonian translocation Down syndrome

MONDO:0700094

Overview

Robertsonian translocation Down syndrome in which translocation displacement of the end regions of chromosomes occurred with loss of chromosomal material between the two nonhomologous chromosomes.

ResearchLimited published research (6 articles)

Diagnosis

Biomarker and diagnostic research for unbalanced Robertsonian translocation Down syndrome 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 unbalanced Robertsonian translocation Down syndrome.

6 publications have been identified in PubMed for unbalanced Robertsonian translocation Down syndrome. Research spans Diagnostic / Biomarker (33%), Review / Meta-Analysis (33%), and Case Report / Case Series (17%).

Recent Publications

Maharjan KK (2025). [PMID: 41268009](https://pubmed.ncbi.nlm.nih.gov/41268009/). *Medical journal, Armed Forces India*. [Epidemiology / Natural History]
Benn P (2025). [PMID: 39341985](https://pubmed.ncbi.nlm.nih.gov/39341985/). *European journal of human genetics : EJHG*. [Diagnostic / Biomarker]
Gonzales PR (2025). [PMID: 40565580](https://pubmed.ncbi.nlm.nih.gov/40565580/). *Genes*. [Review / Meta-Analysis]
Popescu-Hobeanu G (2024). [PMID: 39596963](https://pubmed.ncbi.nlm.nih.gov/39596963/). *Medicina (Kaunas, Lithuania)*. [Review / Meta-Analysis]
Wu X (2024). [PMID: 39498047](https://pubmed.ncbi.nlm.nih.gov/39498047/). *Heliyon*. [Diagnostic / Biomarker]

Data assembled from 2 of 12 sources · Last updated Sep 18, 2026, 9:42 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

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unbalanced Robertsonian translocation Down syndrome

Overview

Diagnosis

Research Landscape

Recent Publications

Medical References

Related Diseases

Questions for Your Care Team

Questions for Your Care Team