{"entities":{"Q46913":{"pageid":37284,"ns":120,"title":"Item:Q46913","lastrevid":185184,"modified":"2026-08-13T15:48:25Z","type":"item","id":"Q46913","labels":{"mul":{"language":"mul","value":"LD50.01"},"pt-br":{"language":"pt-br","value":"Cari\u00f3tipo 46, X iso Xq"},"en":{"language":"en","value":"Karyotype 46, X iso Xq"}},"descriptions":{"pt-br":{"language":"pt-br","value":"Doen\u00e7a que afeta mulheres, causada por um dos dois cromossomos X consistindo de dois bra\u00e7os q, que s\u00e3o estruturalmente id\u00eanticos e cont\u00eam os mesmos genes. Esta doen\u00e7a pode se manifestar com baixa estatura, dobras extras de pele no pesco\u00e7o, linha do cabelo baixa na nuca, incha\u00e7o ou edema de m\u00e3os e p\u00e9s, anormalidades esquel\u00e9ticas, hipofun\u00e7\u00e3o ovariana ou insufici\u00eancia ovariana prematura, problemas renais ou defeitos card\u00edacos. Esta doen\u00e7a pode ser diferenciada da s\u00edndrome de Turner cl\u00e1ssica por uma falta quase absoluta de desenvolvimento gonadal, resultando em falta de menstrua\u00e7\u00e3o ou de desenvolvimento da mama. A confirma\u00e7\u00e3o \u00e9 feita por meio da observa\u00e7\u00e3o de um cromossomo iso Xq por cariotipagem."},"en":{"language":"en","value":"A disease affecting females, caused by one of the two X chromosomes consisting of two q arms, which are structurally identical and contain the same genes. This disease may present with short stature, extra folds of skin on the neck, a low hairline at the back of the neck, puffiness or swelling of the hands and feet, skeletal abnormalities, ovarian hypofunction or premature ovarian failure, kidney problems, or heart defects. This disease may be differentiated from classical Turner Syndrome by a near complete lack of gonadal development, resulting in a lack of menstruation or breast development. Confirmation is through observation of an iso Xq chromosome by karyotyping."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"accae8e0eb7d25ab331ac6effccad56d2da38627","datavalue":{"value":"https://id.who.int/icd/entity/1626557438","type":"string"},"datatype":"url"},"type":"statement","id":"Q46913$DB66A1BB-88B6-4D4F-8B0C-606C6044B4CF","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"8611ea4437c79387b081dbef21bb414fca846215","datavalue":{"value":"CID11:LD50.01","type":"string"},"datatype":"string"},"type":"statement","id":"Q46913$E0DCE25E-FF66-438D-808C-A536A13C67EC","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"09b3f01395d9c35ec87cc9fc5896ff4850284955","datavalue":{"value":"dki-india-LD50.01","type":"string"},"datatype":"string"},"type":"statement","id":"Q46913$9DDD3FE7-AEB0-469C-B40C-0E47056275EF","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q46913$3DBE64D9-A3DA-4570-A869-49FF4C6E8200","rank":"normal"}],"P78":[{"mainsnak":{"snaktype":"value","property":"P78","hash":"5f9b5be68b7400da549761cf15abfdbc4d1e075b","datavalue":{"value":"https://pauloleads.com.br/cases-publicos/","type":"string"},"datatype":"url"},"type":"statement","id":"Q46913$B12B1765-57B7-47B9-8FB2-47AC7F7AED0A","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"92b8222fcbb75718504f915073a3f43bd4003d18","datavalue":{"value":{"time":"+2026-08-13T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q46913$41405B0A-B673-4750-B240-84D5351B25D3","rank":"normal"}],"P89":[{"mainsnak":{"snaktype":"value","property":"P89","hash":"9fac5efa3b0bebcbf54c9ac324808d39350cf354","datavalue":{"value":{"entity-type":"item","numeric-id":961,"id":"Q961"},"type":"wikibase-entityid"},"datatype":"wikibase-item"},"type":"statement","id":"Q46913$49205E14-AD63-45E7-B358-3D53C93452EF","rank":"normal"}]},"sitelinks":{}}}}