Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja 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 (see this term) testing and have UPD involving variable segments of the long arm of chromosome 20. Disease data Klasyfikacja Malformation syndrome Synonimy Paternal UPD(20) Ojcowska UPD20 UPD(20)pat UPD(20)pat Kod ORPHA 96194 Kod OMIM - Kod ICD10 Q99.8 Kod ICD11 - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl