{"orpha":96102,"name":"Distal duplication 10q syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Distal trisomy 10q","Telomeric duplication 10q","Trisomy 10qter"],"definition":"Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96102/","orphanet_url":"https://www.orpha.net/en/disease/detail/96102","names":{"fr":{"name":"Syndrome de duplication distale 10q","synonyms":["Duplication 10qter","Duplication télomérique 10q","Trisomie 10qter","Trisomie distale 10q","Trisomie télomérique 10q"],"definition":"La trisomie distale du bras long du chromosome 10 (10q) est caractérisée par un retard de croissance anté- et postnatal, des traits faciaux particuliers, une hypotonie et un retard psychomoteur et de développement."},"de":{"name":"Distale Duplikation 10q","synonyms":["Telomere Duplikation 10q","Trisomie 10qter","Distale Trisomie 10q","Duplikation 10q, distale"],"definition":"Die distale Duplikation des langen Armes des Chromosoms 10 (10q) ist gekennzeichnet durch prä- und postnatal verzögertes Wachstum, ein Muster spezifischer fazialer Merkmale, Muskelhypotonie und verzögerte allgemeine und psychomotorische Entwicklung."},"es":{"name":"Síndrome de duplicación terminal 10q","synonyms":["Trisomía 10qter","Trisomía terminal 10q"],"definition":"La trisomía distal del brazo largo del cromosoma 10 (10q) se caracteriza por un retraso en el desarrollo pre- y postnatal, un patrón de hallazgos faciales específicos, hipotonía, y retraso psicomotor y del desarrollo."},"it":{"name":"Sindrome duplicazione 10q distale","synonyms":["Duplicazione 10q telomerica","Trisomia 10qter","Trisomia 10q distale"]},"nl":{"name":"Distale duplicatie 10q-syndroom","synonyms":["Distale trisomie 10q","Telomerische duplicatie 10q","Trisomie 10qter"],"definition":"Distale trisomie van de lange arm van chromosoom 10 (10q) wordt gekenmerkt door pre- en postnatale groeiretardatie, een patroon van specifieke gelaatskenmerken, hypotonie, ontwikkelingsachterstand, en psychomotorische achterstand."},"pt":{"name":"Duplicação distal 10q","synonyms":["Duplicação telomérica 10q","Trissomia 10qter","Trissomia distal 10q"],"definition":"A trissomia distal do braço longo do cromossoma 10 (10q) é caracterizada por atraso de crescimento pré- e pós-natal, um padrão de características faciais específicas, hipotonia, e atraso do desenvolvimento psicomotor."},"pl":{"name":"Zespół duplikacji dystalnej 10q","synonyms":["Duplikacja dystalna 10q","Duplikacja telomerowa 10q","Trisomia 10qter"]},"cs":{"name":"Distální trizomie 10q","synonyms":["Distální duplikace 10q","Telomerická duplikace 10q","Trizomie 10qter"]},"uk":{"name":"Дистальна дуплікація 10q","synonyms":["Дистальна трисомія 10q","Теломерна дуплікація 10q","Трисомія 10qter"],"definition":"Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay."},"zh":{"name":"10号染色体长臂远端三体","synonyms":["10号染色体长臂端粒重复"],"definition":"10号染色体长臂（10q）远端三体，特征为出生前和出生后生长迟缓、特殊面容、肌张力减退、精神运动发育迟缓。"},"tr":{"name":"Distal trizomi 10q","synonyms":["Trizomi 10qter","Distal duplikasyon 10q","Telomerik duplikasyon 10q"]}},"xrefs":[{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.90","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1327297771"},{"source":"MONDO","code":"0019884","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538087","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931728","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98642,"name":"Chromosomal anomaly with cataract","classifications":[156,189]},{"orpha":262914,"name":"Partial duplication of the long arm of chromosome 10 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":40.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}