paternal uniparental disomy of chromosome 20
Findings
No curated finding names paternal uniparental disomy of chromosome 20 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b testing and have UPD involving variable segments of the long arm of chromosome 20.
Definition from the Mondo Disease Ontology (MONDO:0019924), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
4 names
Resolves to: paternal uniparental disomy of chromosome 20
- Also called
- paternal uniparental disomy of chromosome type 20paternal UPD(20)paternal UPD20UPD(20)pat