{"orpha":96194,"name":"Paternal uniparental disomy of chromosome 20 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Paternal UPD(20)","UPD(20)pat"],"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96194/","orphanet_url":"https://www.orpha.net/en/disease/detail/96194","names":{"fr":{"name":"Syndrome de disomie uniparentale d'origine paternelle du chromosome 20","synonyms":["UPD(20) paternelle","UPD(20)pat"],"definition":"La disomie uniparentale d'origine paternelle du chromosome 20 est une anomalie chromosomique très rare dans laquelle les deux copies du chromosome 20 sont héritées du père. Les principales caractéristiques décrites sont un poids important à la naissance et/ou une obésité précoce, une macrocéphalie relative et une grande taille. La plupart des patients ont été diagnostiqués au cours d'un examen pour une pseudo-hypoparathyroïdie sporadique de type 1b et présentent une disomie uniparentale impliquant des segments variables du bras long du chromosome 20."},"de":{"name":"Uniparentale Disomie des Chromosom 20, paternale","synonyms":["UPD(20)pat"]},"es":{"name":"Síndrome de disomía uniparental paterna del cromosoma 20","synonyms":["UPD(20) paterna","UPD(20)pat"],"definition":"La disomía uniparental (DUP) paterna del cromosoma 20 es una anomalía cromosómica muy infrecuente en la que ambas copias del cromosoma 20 son heredadas del padre. Los principales rasgos descritos consisten en sobrepeso al nacimiento y/o un inicio temprano de la obesidad, macrocefalia relativa, y elevada estatura. La mayoría de pacientes son identificados mediante pruebas de detección del pseudohipoparatiroidismo tipo 1b esporádico (ver este término) y la presencia de DUP que afecta a segmentos variables del brazo largo del cromosoma 20."},"it":{"name":"Sindrome disomia uniparentale paterna del cromosoma 20","synonyms":["UPD(20)pat","UPD(20) paterna"],"definition":"La disomia uniparentale paterna del cromosoma 20 è un'anomalia cromosomica molto rara nella quale entrambe le copie del cromosoma 20 vengono ereditate dal padre. I principali segni clinici sono l'aumento del peso alla nascita e/o l'obesità ad esordio precoce, la macrocefalia relativa e la statura elevata. Nella maggior parte dei pazienti la diagnosi viene posta casualmente nel corso di analisi per lo pseudoipoparatiroidismo tipo 1b (si veda questo termine); possono essere interessati segmenti diversi del braccio lungo del cromosoma 20."},"nl":{"name":"Paternale uniparentale disomie van chromosoom 20-syndroom","synonyms":["Paternale UPD(20)","UPD(20)pat"],"definition":"Paternale uniparentale disomie van chromosoom 20 (UPD20) is een zeer zeldzame chromosomale anomalie waarbij beide kopieën van chromosoom 20 overgeërfd worden van de vader. De voornaamste kenmerken die werden beschreven, zijn hoog geboortegewicht en/of vroeg aanvangende obesitas, relatieve macrocefalie, en grote gestalte. Bij de meeste patiënten werd de ziekte vastgesteld tijdens sporadische testen voor pseudohypoparathyreoïdie type 1B (zie deze term) en is er sprake van UDP waarbij variabele segmenten van de lange arm van chromosoom 20 betrokken zijn."},"pt":{"name":"Dissomia uniparental de origem paterna, cromossoma 20"},"pl":{"name":"Zespół jednorodzicielskiej disomii chromosomu 20 pochodzenia ojcowskiego","synonyms":["Ojcowska UPD20","UPD(20)pat"]},"cs":{"name":"Paternální uniparentální dizomie chromozomu 20","synonyms":["Paternální UPD(20)","UPD(20)pat"]},"uk":{"name":"Батькова уніпарентна дисомія хромосоми 20","synonyms":["Батькова UPD(20)","UPD(20)pat"],"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 (see this term) testing and have UPD involving variable segments of the long arm of chromosome 20."},"zh":{"name":"父源性20号染色体单亲二体","synonyms":["父源性UPD(20)"],"definition":"20号染色体父源单亲二倍体是一种非常罕见的染色体异常，其中20号染色体的两条同源染色体都遗传自父亲，现有描述的主要特征是高出生体重和/或早发性肥胖、头颅相对较大和身材高大。大多数患者进行了散发性的假性甲状旁腺机能减退症1b型（见本术语）检查，并且发现有20号染色体长臂可变片段的单亲二倍体现象。"},"tr":{"name":"20. kromozomun paternal uniparental dizomisi","synonyms":["UPD (20) pat","Paternal UPD (20)"]}},"xrefs":[{"source":"ICD-10","code":"Q99.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD45.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1406068218"},{"source":"MONDO","code":"0019924","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4275028","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98154,"name":"Paternal uniparental disomy syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[],"phenotypes":null}