XXXXY syndrome (original) (raw)
Sindrom 49, XXXXY adalah kelainan yang sangat langka. Ini terjadi pada sekitar 1 dari 85.000 hingga 100.000 pria. Sindrom ini adalah hasil dari ibu selama meiosis I dan II. Sindrom ini pertama kali didiagnosis pada tahun 1960 dan dinamakan sindrom Fraccaro, berasal dari nama peneliti sindrom tersebut.
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| dbo:abstract | Sindrom 49, XXXXY adalah kelainan yang sangat langka. Ini terjadi pada sekitar 1 dari 85.000 hingga 100.000 pria. Sindrom ini adalah hasil dari ibu selama meiosis I dan II. Sindrom ini pertama kali didiagnosis pada tahun 1960 dan dinamakan sindrom Fraccaro, berasal dari nama peneliti sindrom tersebut. (in) 49,XXXXY syndrome is an extremely rare aneuploidic sex chromosomal abnormality. It occurs in approximately 1 out of 85,000 to 100,000 males. This syndrome is the result of maternal non-disjunction during both meiosis I and II. It was first diagnosed in 1960 and was coined Fraccaro syndrome after the researcher. (en) XXXXY 증후군(영어: XXXXY syndrome)은 인간 남성이 X 염색체가 3개 더 있어서 일반 46개의 염색체가 아닌 총 49개의 염색체가 있는 성 염색체 이수성 증후군이다. 이 증후군은 49,XXXXY 핵형을 만들어내는데, 이는 100,000명의 출생 남아(男兒) 가운데 1명에게 발생한다. 클라인펠터 증후군과 유사하지만 심한 지능 장애 등 더 극심한 증상을 보인다. (ko) Синдром 49, XXXXY — чрезвычайно редкая анеуплоидная половая хромосомная аномалия. Случается примерно в 1 из 85 000 до 100 000 случаев. Этот синдром является результатом материнской не дизъюнкции во время мейоза I и II. Впервые он был диагностирован в 1960 году и был назван синдромом Фраккаро по имени исследователя. (ru) Síndrome XXXXY é uma variação no cromossomo sexual aneuploide extremamente rara; sua ocorrência em é de aproximadamente 1 entre 85.000 a 100.000 machos. Como seu próprio nome indica, uma pessoa com a síndrome possui um cromossomo Y e quatro cromossomos X no 23º par, possuindo assim 49 cromossomos ao invés dos 46 encontrado em pessoas diádicas. Assim como outras variações aneuplóidicas, a síndrome XXXXY é geralmente acompanhada por retardo mental. Ela pode ser considerada uma variante da síndrome de Klinefelter. Foi descrito pela primeira vez em 1960 por . (pt) XXXXY综合征，是一种极为罕见的非整倍染色体异常，男性中发病率约为1/100,000至1/85,000。此综合征病因为母体卵细胞在第一次减数分裂和第二次减数分裂时未分离。首次诊断于1960年，取研究者Fraccaro之名命名为Fraccaro综合征。 (zh) |
| dbo:diseasesDB | 32552 |
| dbo:icd9 | 758.81 |
| dbo:wikiPageExternalLink | https://ghr.nlm.nih.gov/condition/49xxxxy-syndrome |
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| dbo:wikiPageLength | 8056 (xsd:nonNegativeInteger) |
| dbo:wikiPageRevisionID | 1120473136 (xsd:integer) |
| dbo:wikiPageWikiLink | dbr:49,_XXXXX dbr:Prognathism dbr:Mosaic_(genetics) dbr:Down_syndrome dbr:Dysmorphic_feature dbr:XXYY_syndrome dbr:Cryptorchidism dbr:Meiosis dbr:Cleft_palate dbr:Clinodactyly dbr:Epicanthic_fold dbc:Sex_chromosome_aneuploidies dbc:Chromosomal_abnormalities dbc:Intersex_variations dbr:Patent_ductus_arteriosus dbr:Turner_syndrome dbr:Karyotype dbr:Aneuploidy dbc:Rare_syndromes dbr:Gynecomastia dbr:Hypertelorism dbr:Hypotonia dbr:XXXY_syndrome dbr:X_chromosome dbr:Y_chromosome dbr:Intellectual_disability dbr:Klinefelter_syndrome dbr:Pes_cavus dbr:X-inactivation dbr:Congenital dbr:Low_birth_weight dbr:Sex_chromosome dbr:Nondisjunction dbr:Hypoplastic dbr:48,_XXXY dbr:Genu_valgus dbr:Club_feet |
| dbp:diseasesdb | 32552 (xsd:integer) |
| dbp:icd | 758.810000 (xsd:double) (en) |
| dbp:name | 49 (xsd:integer) |
| dbp:wikiPageUsesTemplate | dbt:Cite_journal dbt:Cn dbt:Columns-list dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist dbt:Short_description dbt:Chromosomal_abnormalities |
| dcterms:subject | dbc:Sex_chromosome_aneuploidies dbc:Chromosomal_abnormalities dbc:Intersex_variations dbc:Rare_syndromes |
| rdf:type | owl:Thing wikidata:Q12136 dbo:Disease |
| rdfs:comment | Sindrom 49, XXXXY adalah kelainan yang sangat langka. Ini terjadi pada sekitar 1 dari 85.000 hingga 100.000 pria. Sindrom ini adalah hasil dari ibu selama meiosis I dan II. Sindrom ini pertama kali didiagnosis pada tahun 1960 dan dinamakan sindrom Fraccaro, berasal dari nama peneliti sindrom tersebut. (in) 49,XXXXY syndrome is an extremely rare aneuploidic sex chromosomal abnormality. It occurs in approximately 1 out of 85,000 to 100,000 males. This syndrome is the result of maternal non-disjunction during both meiosis I and II. It was first diagnosed in 1960 and was coined Fraccaro syndrome after the researcher. (en) XXXXY 증후군(영어: XXXXY syndrome)은 인간 남성이 X 염색체가 3개 더 있어서 일반 46개의 염색체가 아닌 총 49개의 염색체가 있는 성 염색체 이수성 증후군이다. 이 증후군은 49,XXXXY 핵형을 만들어내는데, 이는 100,000명의 출생 남아(男兒) 가운데 1명에게 발생한다. 클라인펠터 증후군과 유사하지만 심한 지능 장애 등 더 극심한 증상을 보인다. (ko) Синдром 49, XXXXY — чрезвычайно редкая анеуплоидная половая хромосомная аномалия. Случается примерно в 1 из 85 000 до 100 000 случаев. Этот синдром является результатом материнской не дизъюнкции во время мейоза I и II. Впервые он был диагностирован в 1960 году и был назван синдромом Фраккаро по имени исследователя. (ru) Síndrome XXXXY é uma variação no cromossomo sexual aneuploide extremamente rara; sua ocorrência em é de aproximadamente 1 entre 85.000 a 100.000 machos. Como seu próprio nome indica, uma pessoa com a síndrome possui um cromossomo Y e quatro cromossomos X no 23º par, possuindo assim 49 cromossomos ao invés dos 46 encontrado em pessoas diádicas. Assim como outras variações aneuplóidicas, a síndrome XXXXY é geralmente acompanhada por retardo mental. Ela pode ser considerada uma variante da síndrome de Klinefelter. Foi descrito pela primeira vez em 1960 por . (pt) XXXXY综合征，是一种极为罕见的非整倍染色体异常，男性中发病率约为1/100,000至1/85,000。此综合征病因为母体卵细胞在第一次减数分裂和第二次减数分裂时未分离。首次诊断于1960年，取研究者Fraccaro之名命名为Fraccaro综合征。 (zh) |
| rdfs:label | Sindrom 49, XXXXY (in) XXXXY 증후군 (ko) Síndrome XXXXY (pt) XXXXY syndrome (en) Синдром 49, XXXXY (ru) XXXXY综合征 (zh) |
| owl:sameAs | wikidata:XXXXY syndrome dbpedia-id:XXXXY syndrome dbpedia-ko:XXXXY syndrome dbpedia-ms:XXXXY syndrome dbpedia-pt:XXXXY syndrome dbpedia-ru:XXXXY syndrome dbpedia-zh:XXXXY syndrome https://global.dbpedia.org/id/4J56P |
| prov:wasDerivedFrom | wikipedia-en:XXXXY_syndrome?oldid=1120473136&ns=0 |
| foaf:isPrimaryTopicOf | wikipedia-en:XXXXY_syndrome |
| foaf:name | 49,XXXXY syndrome (en) |
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| is dbo:wikiPageWikiLink of | dbr:49,_XXXXY_syndrome dbr:49_XXXXY_syndrome dbr:49_xxxxy_syndrome dbr:Pentasomy_X dbr:49,XXXXY dbr:49,XXXXY_syndrome dbr:XXXXY |
| is foaf:primaryTopic of | wikipedia-en:XXXXY_syndrome |