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Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (incl. microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for non-distal trisomy 13q.
1 publication has been identified in PubMed for non-distal trisomy 13q. Research spans Case Report / Case Series (100%).
Minelli M (2025). [PMID: 39852141](https://pubmed.ncbi.nlm.nih.gov/39852141/). *Curr Issues Mol Biol*. [Case Report / Case Series]
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 3:05 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center