{"entities":{"Q101739":{"pageid":92132,"ns":120,"title":"Item:Q101739","lastrevid":582496,"modified":"2026-08-16T18:35:03Z","type":"item","id":"Q101739","labels":{"mul":{"language":"mul","value":"ID_1840852397"},"pt-br":{"language":"pt-br","value":"Cromossomo 20 em anel com n\u00famero normal de cromossomos"},"en":{"language":"en","value":"Ring chromosome 20 with normal number of chromosomes"}},"descriptions":{"pt-br":{"language":"pt-br","value":"A s\u00edndrome do cromossomo 20 em anel \u00e9 uma anomalia cromoss\u00f4mica marcada por uma convuls\u00e3o de fen\u00f3tipo caracter\u00edstico. Dependendo da quantidade de perda cromoss\u00f4mica e do mosaicismo associado, o anel(20) pode estar associado a macrocefalia, d\u00e9ficit intelectual leve a moderado ou problemas comportamentais. Em casos raros, malforma\u00e7\u00f5es cerebrais, renais ou card\u00edacas podem estar presentes. O desenvolvimento psicomotor inicial geralmente n\u00e3o \u00e9 afetado e o crescimento pr\u00e9 e p\u00f3s-natal \u00e9 normal. N\u00e3o h\u00e1 dismorfismo reconhec\u00edvel, embora estrabismo, micrognatia, fissuras palpebrais inclinadas para baixo e anormalidades de orelha tenham sido relatados em alguns indiv\u00edduos afetados."},"en":{"language":"en","value":"Ring chromosome 20 syndrome is a chromosomal anomaly marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioural problems. In rare cases, brain, kidney or heart malformations may be present. Initial psychomotor development is usually unaffected and pre- and postnatal growth are normal. There is no recognizable dysmorphism although strabismus, micrognathia, down-slanting palpebral fissures, and ear abnormalities have been reported in some affected individuals."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"a42345e67f09b9f46a5e4a8928451bcceac129b1","datavalue":{"value":"https://id.who.int/icd/entity/1840852397","type":"string"},"datatype":"url"},"type":"statement","id":"Q101739$5C3E1351-9543-4E9F-9475-D623F2231AE1","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"3197e131d5267cfac68bba0e32f2a587ddf7024a","datavalue":{"value":"CID11:ID_1840852397","type":"string"},"datatype":"string"},"type":"statement","id":"Q101739$8BE56E20-66B1-44A1-90E5-C84E3F829500","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"dff7389636298693b7cce800b455a84b2dca87f9","datavalue":{"value":"dki-india-ID_1840852397","type":"string"},"datatype":"string"},"type":"statement","id":"Q101739$E77D667B-E0D1-4A7D-A18F-24CCB62A0500","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q101739$AACE69EE-9A1C-47D3-B09E-CD8AFF59B14F","rank":"normal"}],"P78":[{"mainsnak":{"snaktype":"value","property":"P78","hash":"5f9b5be68b7400da549761cf15abfdbc4d1e075b","datavalue":{"value":"https://pauloleads.com.br/cases-publicos/","type":"string"},"datatype":"url"},"type":"statement","id":"Q101739$3C8957EA-2F8A-468F-846E-6EAFAA81CB5F","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"378ac503ed43f21e1f461d2823a6ad59da580514","datavalue":{"value":{"time":"+2026-08-15T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q101739$ACC15962-A323-40ED-9DAB-7E36B08956FB","rank":"normal"}]},"sitelinks":{}}}}