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Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for distal trisomy 6p.
1 publication has been identified in PubMed for distal trisomy 6p. Research spans Other (100%).
Xue H (2025). [PMID: 40595133](https://pubmed.ncbi.nlm.nih.gov/40595133/). *Sci Rep*. [Other]
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