{"orpha":96186,"name":"Maternal uniparental disomy of chromosome 20 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Maternal UPD(20)","UPD(20)mat"],"definition":"Maternal uniparental disomy of chromosome 20 (UPD 20) is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96186/","orphanet_url":"https://www.orpha.net/en/disease/detail/96186","names":{"fr":{"name":"Syndrome de disomie uniparentale maternelle du chromosome 20","synonyms":["UPD(20) maternelle","UPD(20)mat"],"definition":"La disomie uniparentale maternelle du chromosome 20 (UPD20) est une anomalie chromosomique très rare dans laquelle les deux copies du chromosome 20 sont héritées de la mère. La principale manifestation est un retard de croissance pré- et postnatale. Une microcéphalie est rapportée à l'occasion, ainsi que des caractéristiques dysmorphiques mineures et un retard de développement psychomoteur. L'UPD20 est le plus souvent détectée à l'occasion d'une grossesse avec trisomie 20 en mosaïque."},"de":{"name":"Uniparentale Disomie 20, maternale","synonyms":["UPD(20)mat"]},"es":{"name":"Síndrome de disomía uniparental materna del cromosoma 20","synonyms":["UPD(20) materna","UPD(20)mat"],"definition":"La disomía uniparental materna del cromosoma 20 (DUP 20) es una anomalía cromosómica muy poco frecuente en la que ambas copias del cromosoma 20 son heredadas de la madre. El principal rasgo descrito consiste en un retraso del crecimiento prenatal y postnatal. Ocasionalmente se ha observado microcefalia, rasgos dismórficos menores y un retraso del desarrollo psicomotor. La UPD20 materna es frecuentemente constatada por la detección de una trisomía 20 en mosaico durante el embarazo."},"it":{"name":"Sindrome disomia uniparentale materna del cromosoma 20","synonyms":["UPD(20)mat","UPD(20) materna"],"definition":"La disomia uniparentale materna del cromosoma 20 (UPD 20) è un'anomalia cromosomica molto rara nella quale i due cromosomi 20 vengono ereditati dalla madre. Il principale segno clinico è il ritardo della crescita prenatale e postnatale. Raramente sono presenti microcefalia, lievi dimorfismi facciali e ritardo dello sviluppo psicomotorio. La maggior parte dei casi di UPD20 sono di origine materna e vengono diagnosticati durante la gravidanza come trisomie 20 in mosaico."},"nl":{"name":"Maternale uniparentale disomie van chromosoom 20-syndroom","synonyms":["Maternale UPD(20)","UPD(20)mat"],"definition":"Maternale uniparentale disomie van chromosoom 20 (UPD20) is een zeer zeldzame chromosomale anomalie waarbij beide kopieën van chromosoom 20 overgeërfd worden van de moeder. Het voornaamste kenmerk dat werd beschreven, is pre- en postnatale groeiretardatie. Microcefalie, minimale dysmorfe kenmerken, en psychomotorische ontwikkelingsachterstand werden occasioneel gerapporteerd. Maternale UPD20 wordt het vaakst vastgesteld door een zwangerschap met mozaïek trisomie 20."},"pt":{"name":"Dissomia uniparental de origem materna, cromossoma 20"},"pl":{"name":"Zespół jednorodzicielskiej disomii chromosomu 20 pochodzenia matczynego","synonyms":["UPD(20)mat","Matczyna UPD(20)"]},"cs":{"name":"Maternální uniparentální dizomie chromozomu 20","synonyms":["Maternální UPD20","UPD(20)mat"]},"uk":{"name":"Материнська уніпарентна дисомія хромосоми 20","synonyms":["Материнська UPD(20)","UPD(20)mat"],"definition":"Maternal uniparental disomy of chromosome 20 (UPD 20) is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy."},"zh":{"name":"母源性20号染色体单亲二体","synonyms":["母源性UPD(20)"],"definition":"母源性20号染色体单亲二体（UPD20）是一种非常罕见的染色体异常，其中20号染色体的两个拷贝都是从母亲遗传而来的。该病主要特征是产前和产后生长迟缓。小头畸形、轻微畸形特征和精神运动发育迟缓也偶尔有报道。母亲UPD20通常在发生嵌合型20号染色体三体妊娠时查明。"},"tr":{"name":"20. kromozomun maternal uniparental dizomisi","synonyms":["UPD(20)mat","Maternal UPD (20)"]}},"xrefs":[{"source":"OMIM","code":"617352","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q99.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD45.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"700797720"},{"source":"MONDO","code":"0019917","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4275029","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98153,"name":"Maternal uniparental disomy syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":12.0,"area":"Worldwide","status":"Validated","source":"26248010[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26248010[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-10-13","source":"33920573[PMID]_29878129[PMID]","terms":[{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004325","label":"Decreased body weight","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034323","label":"Reduced circulating growth hormone concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100555","label":"Asymmetric growth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null}]}}