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

Rare Disease

balanced Robertsonian translocation Down syndrome

MONDO:0700093

Overview

Robertsonian translocation Down syndrome in which translocation displacement of the end regions of chromosomes occurred without loss of chromosomal material between the two nonhomologous chromosomes.

ResearchLimited published research (6 articles)

Diagnosis

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

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

Recent Publications

Maharjan KK (2025). [PMID: 41268009](https://pubmed.ncbi.nlm.nih.gov/41268009/). *Med J Armed Forces India*. [Epidemiology / Natural History]
Benn P (2025). [PMID: 39341985](https://pubmed.ncbi.nlm.nih.gov/39341985/). *Eur J Hum Genet*. [Diagnostic / Biomarker]
Gonzales PR (2025). [PMID: 40565580](https://pubmed.ncbi.nlm.nih.gov/40565580/). *Genes (Basel)*. [Review / Meta-Analysis]
Federico C (2024). [PMID: 38927657](https://pubmed.ncbi.nlm.nih.gov/38927657/). *Genes (Basel)*. [Case Report / Case Series]
Popescu-Hobeanu G (2024). [PMID: 39596963](https://pubmed.ncbi.nlm.nih.gov/39596963/). *Medicina (Kaunas)*. [Diagnostic / Biomarker]

Data assembled from 2 of 12 sources · Last updated Sep 19, 2026, 3:32 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

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balanced Robertsonian translocation Down syndrome

Overview

Diagnosis

Research Landscape

Recent Publications

Medical References

Related Diseases

Questions for Your Care Team

Questions for Your Care Team