{"title":"平衡X;卵巢早衰患者22位易位1例。","authors":"N Banerjee, A Kriplani, D Takkar, K Kucheria","doi":"10.1017/s0001566000000477","DOIUrl":null,"url":null,"abstract":"<p><p>A case of balanced X; autosome translocation 46, X, t (X; 22) (q 24; q 13) in a 25-year-old female with secondary amenorrhea and premature ovarian failure (POF) is described. The relationship between balanced X; autosome translocation [t (X; A)] and varied phenotypic expression observed in these women is discussed. This case highlights the importance of early recognition of these women in order to give them the best chance of conception in their oligohypomenorrhic phase before complete loss of gonadal function.</p>","PeriodicalId":7118,"journal":{"name":"Acta geneticae medicae et gemellologiae","volume":"46 4","pages":"241-4"},"PeriodicalIF":0.0000,"publicationDate":"1997-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1017/s0001566000000477","citationCount":"6","resultStr":"{\"title\":\"Balanced X; 22 translocation in a patient with premature ovarian failure.\",\"authors\":\"N Banerjee, A Kriplani, D Takkar, K Kucheria\",\"doi\":\"10.1017/s0001566000000477\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>A case of balanced X; autosome translocation 46, X, t (X; 22) (q 24; q 13) in a 25-year-old female with secondary amenorrhea and premature ovarian failure (POF) is described. The relationship between balanced X; autosome translocation [t (X; A)] and varied phenotypic expression observed in these women is discussed. This case highlights the importance of early recognition of these women in order to give them the best chance of conception in their oligohypomenorrhic phase before complete loss of gonadal function.</p>\",\"PeriodicalId\":7118,\"journal\":{\"name\":\"Acta geneticae medicae et gemellologiae\",\"volume\":\"46 4\",\"pages\":\"241-4\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1997-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1017/s0001566000000477\",\"citationCount\":\"6\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Acta geneticae medicae et gemellologiae\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1017/s0001566000000477\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Acta geneticae medicae et gemellologiae","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1017/s0001566000000477","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 6
摘要
平衡X的一种情况;常染色体易位46,X, t (X;22) (q 24;q13)在25岁的女性继发性闭经和卵巢早衰(POF)的描述。平衡X;常染色体易位[t (X;A)]并讨论了在这些女性中观察到的不同表型表达。这个病例强调了早期识别这些女性的重要性，以便在性腺功能完全丧失之前，在月经少潮期给她们最好的受孕机会。
Balanced X; 22 translocation in a patient with premature ovarian failure.
A case of balanced X; autosome translocation 46, X, t (X; 22) (q 24; q 13) in a 25-year-old female with secondary amenorrhea and premature ovarian failure (POF) is described. The relationship between balanced X; autosome translocation [t (X; A)] and varied phenotypic expression observed in these women is discussed. This case highlights the importance of early recognition of these women in order to give them the best chance of conception in their oligohypomenorrhic phase before complete loss of gonadal function.
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