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

Rare Disease

maternal uniparental disomy of chromosome 20

MONDO:0019917

Also known as:UPD(20)matmaternal UPD(20)maternal uniparental disomy of chromosome type 20

Overview

Maternal uniparental disomy of chromosome 20 (UPD 20) is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy.

OnsetINFANTILE, ANTENATAL

ResearchLimited published research (7 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Severe short stature and Failure to thrive; and common findings: Generalized hypotonia. 18 total HPO annotations.

Organ System	Phenotype Count	Example Features
Growth and development	3	Severe short stature, Failure to thrive, Intrauterine growth retardation

Diagnosis

Biomarker and diagnostic research for maternal uniparental disomy of chromosome 20 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 1 common feature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 maternal uniparental disomy of chromosome 20.

8 publications have been identified in PubMed for maternal uniparental disomy of chromosome 20. Research spans Diagnostic / Biomarker (43%), Case Report / Case Series (29%), and Basic Science / Preclinical (14%).

Recent Publications

Zhang J (2026). [PMID: 40964751](https://pubmed.ncbi.nlm.nih.gov/40964751/). *American journal of medical genetics. Part A*. [Case Report / Case Series]
Borgione E (2025). [PMID: 40562130](https://pubmed.ncbi.nlm.nih.gov/40562130/). *Gene*. [Basic Science / Preclinical]
Liu Y (2025). [PMID: 40529639](https://pubmed.ncbi.nlm.nih.gov/40529639/). *Appl Clin Genet*. [Diagnostic / Biomarker]
Braga BL (2025). [PMID: 39586716](https://pubmed.ncbi.nlm.nih.gov/39586716/). *Clinical genetics*. [Epidemiology / Natural History]
Huang Y (2025). [PMID: 40799956](https://pubmed.ncbi.nlm.nih.gov/40799956/). *Practical laboratory medicine*. [Diagnostic / Biomarker]

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

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617352

Orphanet

European rare disease database

Orphanet:96186

GARD

Genetic and Rare Diseases Info Center

GARD:16849

Questions for Your Care Team

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maternal uniparental disomy of chromosome 20

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

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