{"orpha":717784,"name":"Partial trisomy 12q syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Partial duplication of chromosome 12q","Partial duplication of the long arm of chromosome 12","Partial trisomy of chromosome 12q","Partial trisomy of the long arm of chromosome 12"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-717784/","orphanet_url":"https://www.orpha.net/en/disease/detail/717784","names":{"fr":{"name":"Syndrome de trisomie partielle 12q","synonyms":["Duplication partielle du bras long du chromosome 12","Duplication partielle du chromosome 12q","Trisomie partielle du bras long du chromosome 12","Trisomie partielle du chromosome 12q"]},"de":{"name":"Partielle Duplikation 12q","synonyms":["Chromosom 12q-Duplikation, partielle","Chromosom 12, partielle Duplikation des langen Arms","Partielle Trisomie des langen Arms von Chromosom 12"]},"es":{"name":"Síndrome de trisomía parcial 12q","synonyms":["Duplicación parcial del brazo largo del cromosoma 12","Duplicación parcial del cromosoma 12q","Trisomía parcial del brazo largo del cromosoma 12","Trisomía parcial del cromosoma 12q"]},"it":{"name":"Sindrome da trisomia parziale 12q","synonyms":["Trisomia parziale del cromosoma 12q","Duplicazione parziale del cromosoma 12q","Trisomia parziale del braccio lungo del cromosoma 12","Duplicazione parziale del braccio lungo del cromosoma 12"]},"nl":{"name":"Partiële trisomie 12q-syndroom","synonyms":["Partiële trisomie van chromosoom 12q","Partiële duplicatie van chromosoom 12q","Partiële trisomie van de lange arm van chromosoom 12","Partiële duplicatie van de lange arm van chromosoom 12"]},"pt":{"name":"Partial trisomy 12q syndrome"},"pl":{"name":"Partial trisomy 12q syndrome","synonyms":["Partial duplication of chromosome 12q","Partial duplication of the long arm of chromosome 12","Partial trisomy of chromosome 12q","Partial trisomy of the long arm of chromosome 12"]},"cs":{"name":"Partial trisomy 12q syndrome","synonyms":["Partial duplication of chromosome 12q","Partial duplication of the long arm of chromosome 12","Partial trisomy of chromosome 12q","Partial trisomy of the long arm of chromosome 12"]}},"xrefs":[{"source":"ICD-10","code":"Q92.2","qualifier":"NTBT","icd_relation":"attributed","validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":98132,"name":"Partial autosomal duplication/triplication syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}