Paternal uniparental disomy of chromosome 20
Paternal uniparental disomy of chromosome 20
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.
Also known as paternal uniparental disomy of chromosome type 20, paternal UPD(20), paternal UPD20, UPD(20)pat — per MONDO