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reciprocal translocation down syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

reciprocal translocation down syndrome

MONDO:0700083

Overview

Chromosomal disorder in which (part or full) chromosome 21 has been exchange with another chromosome, resulting in the presence of a third copy of (part or full) chromosome 21 genetic material. A reciprocal translocation is a chromosome abnormality caused by exchange of parts between non-homologous chromosomes.

ResearchLimited published research (5 articles)

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 reciprocal translocation down syndrome.

6 publications have been identified in PubMed for reciprocal translocation down syndrome. Research spans Case Report / Case Series (40%), Basic Science / Preclinical (40%), and Clinical Trial Publication (20%).

Recent Publications

Raeisi Dehkordi S (2025). [PMID: 41238396](https://pubmed.ncbi.nlm.nih.gov/41238396/). *Genome Res*. [Basic Science / Preclinical]
Villa N (2024). [PMID: 39202220](https://pubmed.ncbi.nlm.nih.gov/39202220/). *Diagnostics (Basel)*. [Basic Science / Preclinical]
Lederbogen RC (2024). [PMID: 38927744](https://pubmed.ncbi.nlm.nih.gov/38927744/). *Genes (Basel)*. [Case Report / Case Series]
Shimojima Yamamoto K (2024). [PMID: 38972777](https://pubmed.ncbi.nlm.nih.gov/38972777/). *Brain Dev*. [Case Report / Case Series]
Simmons GL (2024). [PMID: 39415933](https://pubmed.ncbi.nlm.nih.gov/39415933/). *EJHaem*. [Clinical Trial Publication]

Data assembled from 2 of 12 sources · Last updated Sep 18, 2026, 11:28 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

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reciprocal translocation down syndrome

Overview

Research Landscape

Recent Publications

Medical References

Related Diseases

Questions for Your Care Team

Questions for Your Care Team