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paternal uniparental disomy of chromosome 21 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

paternal uniparental disomy of chromosome 21

MONDO:0019925

Also known as:UPD(21)patpaternal uniparental disomy of chromosome type 21

Overview

Paternal uniparental disomy of chromosome 21 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.

ResearchLimited published research (4 articles)

Diagnosis

Biomarker and diagnostic research for paternal uniparental disomy of chromosome 21 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 paternal uniparental disomy of chromosome 21.

4 publications have been identified in PubMed for paternal uniparental disomy of chromosome 21. Research spans Other (50%) and Diagnostic / Biomarker (50%).

Recent Publications

Benn P (2026). [PMID: 41299888](https://pubmed.ncbi.nlm.nih.gov/41299888/). *Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology*. [Diagnostic / Biomarker]
McCullough ME (2024). [PMID: 40302951](https://pubmed.ncbi.nlm.nih.gov/40302951/). *Pediatric diabetes*. [Other]
Villa N (2024). [PMID: 39202220](https://pubmed.ncbi.nlm.nih.gov/39202220/). *Diagnostics (Basel, Switzerland)*. [Diagnostic / Biomarker]
Li JW (2024). [PMID: 39075593](https://pubmed.ncbi.nlm.nih.gov/39075593/). *Mol Cytogenet*. [Other]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 9:17 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:96195

GARD

Genetic and Rare Diseases Info Center

GARD:19344

Questions for Your Care Team

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paternal uniparental disomy of chromosome 21

Overview

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team