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12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated.
Biomarker and diagnostic research for 12q15q21.1 microdeletion syndrome has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for 12q15q21.1 microdeletion syndrome.
384 publications have been identified in PubMed for 12q15q21.1 microdeletion syndrome. Kisho has analyzed 112 by research type. Research spans Review / Meta-Analysis (29%), Case Report / Case Series (24%), and Basic Science / Preclinical (21%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 32 | 29% |
Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 2:11 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Patient case studies |
27 |
24% |
Laboratory research | 24 | 21% |
Disease patterns and progression | 18 | 16% |
Testing and diagnosis research | 9 | 8% |
Clinical study results | 1 | 1% |
New treatment approaches | 1 | 1% |
Kikas T (2026). [PMID: 41338233](https://pubmed.ncbi.nlm.nih.gov/41338233/). *Hum Reprod*. [Basic Science / Preclinical]
Maines J (2026). [PMID: 32491634](https://pubmed.ncbi.nlm.nih.gov/32491634/). *Unknown Journal*. [Diagnostic / Biomarker]
Bishop BN (2026). [PMID: 30860719](https://pubmed.ncbi.nlm.nih.gov/30860719/). *Unknown Journal*. [Epidemiology / Natural History]
Real TD (2026). [PMID: 41916274](https://pubmed.ncbi.nlm.nih.gov/41916274/). *Cell Genom*. [Basic Science / Preclinical]
Rips J (2025). [PMID: 40444971](https://pubmed.ncbi.nlm.nih.gov/40444971/). *Am J Med Genet A*. [Case Report / Case Series]
Fifirig CI (2025). [PMID: 40176798](https://pubmed.ncbi.nlm.nih.gov/40176798/). *Front Genet*. [Review / Meta-Analysis]
Gur RC (2025). [PMID: 39048645](https://pubmed.ncbi.nlm.nih.gov/39048645/). *Mol Psychiatry*. [Review / Meta-Analysis]
Correia MN (2025). [PMID: 40245849](https://pubmed.ncbi.nlm.nih.gov/40245849/). *Cytogenet Genome Res*. [Basic Science / Preclinical]
Tsabai PN (2025). [PMID: 39932630](https://pubmed.ncbi.nlm.nih.gov/39932630/). *J Assist Reprod Genet*. [Case Report / Case Series]
Peron A (2025). [PMID: 39448799](https://pubmed.ncbi.nlm.nih.gov/39448799/). *Eur J Hum Genet*. [Review / Meta-Analysis]
AI-curated news mentioning 12q15q21.1 microdeletion syndrome
Updated Jul 8, 2026
A new treatment for children aged 2 or older with sickle cell disease has been approved by the U.S. Food & Drug Administration. In a press release on Wednesday, the FDA announced it had approved Casgevy, the first gene therapy for children with sickle cell disease. (NewsNation) — A new treatment for children aged 2 or older with sickle cell disease has been approved by the Food & Drug Administration (FDA). In a Wednesday news release, the FDA announced it had approved Casgevy, the first gene therapy for children with the disease. “Casgevy is a gene therapy consisting of the patient’s own (autologous) hematopoietic (blood) stem cells, administered as a one-time single dose for intravenous infusion,” the release noted. “Pediatric patients as young as 2 years of age can now access a critical additional treatment option to treat these debilitating, life-threatening diseases,” Karim Mikhail, the acting director of the Center for Biologics Evaluation and Research, wrote. “These disorders carry a heavy burden for children and their families, affecting growth, development, and long-term health in profound ways,” Megha Kaushal, acting deputy director of the Office of Therapeutic Products in CBER, said in the release.