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Biomarker and diagnostic research for Xp22.13p22.2 duplication syndrome has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Xp22.13p22.2 duplication syndrome.
200 publications have been identified in PubMed for Xp22.13p22.2 duplication syndrome. Kisho has analyzed 97 by research type. Research spans Basic Science / Preclinical (30%), Review / Meta-Analysis (26%), and Case Report / Case Series (18%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 29 | 30% |
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 4:48 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Xp22.13p22.2 duplication syndrome
Research summaries |
25 |
26% |
Patient case studies | 17 | 18% |
Disease patterns and progression | 14 | 14% |
Testing and diagnosis research | 10 | 10% |
New treatment approaches | 2 | 2% |
Liu RY (2026). [PMID: 41730779](https://pubmed.ncbi.nlm.nih.gov/41730779/). *Am J Med Genet A*. [Epidemiology / Natural History]
Gupta A (2026). [PMID: 41533387](https://pubmed.ncbi.nlm.nih.gov/41533387/). *JAMA Psychiatry*. [Review / Meta-Analysis]
Venezia I (2026). [PMID: 41114666](https://pubmed.ncbi.nlm.nih.gov/41114666/). *J Dev Behav Pediatr*. [Epidemiology / Natural History]
Ta D (2026). [PMID: 41535863](https://pubmed.ncbi.nlm.nih.gov/41535863/). *Orphanet J Rare Dis*. [Diagnostic / Biomarker]
Planté-Bordeneuve P (2026). [PMID: 40665566](https://pubmed.ncbi.nlm.nih.gov/40665566/). *Dev Med Child Neurol*. [Basic Science / Preclinical]
Durland J (2026). [PMID: 32809354](https://pubmed.ncbi.nlm.nih.gov/32809354/). *Unknown Journal*. [Basic Science / Preclinical]
Ishida C (2026). [PMID: 32809547](https://pubmed.ncbi.nlm.nih.gov/32809547/). *Unknown Journal*. [Basic Science / Preclinical]
Kikas T (2026). [PMID: 41338233](https://pubmed.ncbi.nlm.nih.gov/41338233/). *Hum Reprod*. [Basic Science / Preclinical]
Alani M (2026). [PMID: 32809723](https://pubmed.ncbi.nlm.nih.gov/32809723/). *Unknown Journal*. [Basic Science / Preclinical]
van der Laan L (2026). [PMID: 41028553](https://pubmed.ncbi.nlm.nih.gov/41028553/). *Eur J Hum Genet*. [Diagnostic / Biomarker]