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A condition characterized by the inheritance of a chromosome pair from one parent and no chromosomal copies from the other parent. It results in developmental abnormalities or rare recessive disorders.
Biomarker and diagnostic research for uniparental disomy has been reported in the published literature.
1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.
215 publications have been identified in PubMed for uniparental disomy. Research spans Case Report / Case Series (40%), Basic Science / Preclinical (18%), and Diagnostic / Biomarker (14%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 87 | 40% |
Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 8:09 PM UTC
Laboratory research |
38 |
18% |
Testing and diagnosis research | 30 | 14% |
Disease patterns and progression | 29 | 13% |
Research summaries | 15 | 7% |
Clinical study results | 9 | 4% |
Other research | 4 | 2% |
New treatment approaches | 3 | 1% |
Anzhel S (2026). [PMID: 41749533](https://pubmed.ncbi.nlm.nih.gov/41749533/). *Children (Basel)*. [Case Report / Case Series]
Lai A (2026). [PMID: 41411742](https://pubmed.ncbi.nlm.nih.gov/41411742/). *Neoplasia (New York, N.Y.)*. [Basic Science / Preclinical]
Świąder-Leśniak A (2026). [PMID: 42163355](https://pubmed.ncbi.nlm.nih.gov/42163355/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]
Xue S (2026). [PMID: 41118657](https://pubmed.ncbi.nlm.nih.gov/41118657/). *Ultrasound Obstet Gynecol*. [Review / Meta-Analysis]
Ek M (2026). [PMID: 41514368](https://pubmed.ncbi.nlm.nih.gov/41514368/). *Genome medicine*. [Case Report / Case Series]
Zhang Z (2026). [PMID: 42216025](https://pubmed.ncbi.nlm.nih.gov/42216025/). *Reprod Biol Endocrinol*. [Diagnostic / Biomarker]
Xue H (2026). [PMID: 42158694](https://pubmed.ncbi.nlm.nih.gov/42158694/). *Transl Pediatr*. [Review / Meta-Analysis]
Zhang L (2026). [PMID: 41918381](https://pubmed.ncbi.nlm.nih.gov/41918381/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Epidemiology / Natural History]
Ajour M (2026). [PMID: 41947226](https://pubmed.ncbi.nlm.nih.gov/41947226/). *J Med Case Rep*. [Case Report / Case Series]
Perez-Nanclares G (2026). [PMID: 42157335](https://pubmed.ncbi.nlm.nih.gov/42157335/). *Clin Epigenetics*. [Case Report / Case Series]