{"orpha":263708,"name":"Complex chromosomal rearrangement syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"A group of rare chromosomal anomalies characterized by constitutional structural chromosomal rearrangements, including translocations, invertions, duplications and deletions, involving at least three breakpoints on two or more chromosomes. Individuals with such arrangements may display various phenotypes including cognitive impairment, congenital abnormalities and infertility, while some can also be phenotypically normal. Both de novo and familial forms are reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-263708/","orphanet_url":"https://www.orpha.net/en/disease/detail/263708","names":{"fr":{"name":"Syndrome de réarrangement chromosomique complexe","definition":"Groupe d'anomalies chromosomiques rares caractérisées par des réarrangements chromosomiques complexes de la structure, tels que des translocations, des inversions, des duplications et des délétions, impliquant au moins trois points de cassure sur deux chromosomes ou plus. Les individus présentant de tels réarrangements peuvent présenter divers phénotypes, à savoir des troubles cognitifs, des anomalies congénitales et une infertilité, tandis que certains peuvent être phénotypiquement normaux. Des formes <i>de novo</i> et des formes familiales sont rapportées."},"de":{"name":"Komplexes chromosomales Rearrangement","definition":"Eine Gruppe seltener Chromosomenanomalien, die durch konstitutionelle strukturelle Chromosomenumlagerungen gekennzeichnet sind, einschließlich Translokationen, Invertierungen, Duplikationen und Deletionen, die mindestens drei Bruchpunkte auf zwei oder mehr Chromosomen umfassen. Personen mit solchen Anordnungen können verschiedene Phänotypen aufweisen, darunter kognitive Beeinträchtigungen, angeborene Anomalien und Unfruchtbarkeit, während einige auch phänotypisch normal sein können. Es wird sowohl über <i>de novo</i> als auch über familiäre Formen berichtet."},"es":{"name":"Síndrome de reordenamiento cromosómico complejo","definition":"Es un grupo de anomalías cromosómicas poco frecuentes caracterizadas por reordenamientos cromosómicos estructurales constitucionales, incluyendo translocaciones, inversiones, duplicaciones y deleciones, que involucran al menos tres puntos de ruptura en dos o más cromosomas. Algunos pacientes con tales disposiciones pueden mostrar varios fenotipos, incluyendo afectación cognitiva, anomalías congénitas e infertilidad, mientras que otros pueden ser fenotípicamente normales. Se han descrito formas tanto de novo como familiares."},"it":{"name":"Sindrome riarrangiamento cromosomico complesso"},"nl":{"name":"Complexe chromosomale herschikking-syndroom","definition":"Een groep van zeldzame chromosomale anomalieën, gekenmerkt door constitutionele structurele chromosomale herschikkingen, waaronder translocaties, inversies, duplicaties en deleties, met betrokkenheid van minstens drie breekpunten op twee of meer chromosomen. Individuen met dergelijke herschikkingen vertonen mogelijk verschillende fenotypes, waaronder cognitieve functiestoornis, congenitale afwijkingen en onvruchtbaarheid, terwijl sommigen ook fenotypisch normaal kunnen zijn. Zowel <i>de novo</i> als familiale vormen werden gerapporteerd."},"pt":{"name":"Rearranjo cromossómico complexo","definition":"Um grupo de anomalias cromossómicas raras caracterizadas por rearranjos cromossómicos estruturais constitucionais, incluindo translocações, inversões, duplicações e deleções, envolvendo pelo menos três pontos de quebra em dois ou mais cromossomas. Indivíduos com tais arranjos podem apresentar vários fenótipos, incluindo compromisso cognitivo, anomalias congénitas e infertilidade, enquanto alguns também podem ser fenotipicamente normais. Ambas as formas de novo e familiares são relatadas."},"pl":{"name":"Zespół złożonej rearanżacji chromosomowej","definition":"Grupa rzadkich anomalii chromosomowych charakteryzujących się konstytucyjnymi strukturalnymi rearanżacjami chromosomowymi, w tym translokacjami, inwersjami, duplikacjami i delecjami, obejmującymi co najmniej trzy punkty złamań na co najmniej dwóch chromosomach. Osoby z takimi aranżacjami mogą wykazywać zróżnicowany fenotyp, w tym upośledzenie funkcji poznawczych, wady wrodzone i niepłodność, niemniej u niektórych pacjentów fenotyp może być prawidłowy. Rearanżacje chromosomowe mogą powstać de novo lub mieć charakter rodzinny."},"cs":{"name":"Komplexní chromozomová přestavba"},"uk":{"name":"Складна хромосомна перебудова","definition":"A group of rare chromosomal anomalies characterized by constitutional structural chromosomal rearrangements, including translocations, invertions, duplications and deletions, involving at least three breakpoints on two or more chromosomes. Individuals with such arrangements may display various phenotypes including cognitive impairment, congenital abnormalities and infertility, while some can also be phenotypically normal. Both de novo and familial forms are reported."},"zh":{"name":"复杂染色体重排"},"tr":{"name":"Kompleks kromozomal yeniden düzenleme"}},"xrefs":[{"source":"MONDO","code":"16998","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680729","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98127,"name":"Autosomal anomaly syndrome","classifications":[147,156]}],"children":[{"orpha":727620,"name":"16p13.11p11.2 triplication/16p11.2 duplication syndrome","type":"Malformation syndrome"},{"orpha":96092,"name":"8p inverted duplication/deletion syndrome","type":"Malformation syndrome"},{"orpha":231130,"name":"Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion","type":"Etiological subtype"},{"orpha":195,"name":"Cat-eye syndrome","type":"Malformation syndrome"},{"orpha":96170,"name":"Emanuel syndrome","type":"Malformation syndrome"},{"orpha":369950,"name":"Intellectual disability-seizures-macrocephaly-obesity syndrome","type":"Disease"},{"orpha":3306,"name":"Inverted duplicated chromosome 15 syndrome","type":"Malformation syndrome"},{"orpha":498488,"name":"Overgrowth syndrome with 2q37 translocation","type":"Malformation syndrome"},{"orpha":96167,"name":"Recombinant 8 syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}