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paternal uniparental disomy of chromosome 20 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

paternal uniparental disomy of chromosome 20

MONDO:0019924

Also known as:UPD(20)patpaternal UPD(20)paternal UPD20

Overview

Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b testing and have UPD involving variable segments of the long arm of chromosome 20.

ResearchLimited published research (2 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 paternal uniparental disomy of chromosome 20.

2 publications have been identified in PubMed for paternal uniparental disomy of chromosome 20. Research spans Other (50%) and Case Report / Case Series (50%).

Recent Publications

Manero-Azua A (2024). [PMID: 39736869](https://pubmed.ncbi.nlm.nih.gov/39736869/). *Front Endocrinol (Lausanne)*. [Case Report / Case Series]
Schmok T (2024). [PMID: 38837660](https://pubmed.ncbi.nlm.nih.gov/38837660/). *Am J Med Genet A*. [Other]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:96194

GARD

Genetic and Rare Diseases Info Center

GARD:19343

Questions for Your Care Team

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paternal uniparental disomy of chromosome 20

Overview

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team