mosaic trisomy 4
Findings
No curated finding names mosaic trisomy 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorally rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated.
Definition from the Mondo Disease Ontology (MONDO:0019865), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
Other names
3 names
Resolves to: mosaic trisomy 4
- Also called
- Mosaic trisomy chromosome 4Mosaic trisomy type 4trisomy 4 mosaicism