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30例月经异常、表型女性的患者 ,染色体组型检查存在Y染色体。 2 5例 46 ,XY组型患者中 ,2 4例原发性闭经 ,1例继发性闭经。表现为睾丸女性化综合征者 16例 ;单纯性XY性腺发育不全 7例 ;卵巢早衰 1例 ;混合性性腺发育不全1例。两例组型为 45 ,X/ 46 ,XY者 ,表现似Tumer综合征。 3例 46 ,XX/ 46 ,XY者中 ,1例真两性畸形 ,其余 2例表现为性腺发育不全。本文探讨了染色体组型与临床表现的关系及其病因。
30 cases of abnormal menstruation, women with phenotype, chromosome-type check exists Y chromosome. In 25 cases of 46 patients with XY group, 24 cases had primary amenorrhea and 1 case had secondary amenorrhea. 16 cases showed testicular feminization syndrome; 7 cases of simple XY gonadal dysgenesis; 1 case of premature ovarian failure; 1 case of mixed gonadal dysgenesis. Two cases of type 45, X / 46, XY who showed Tumer syndrome. Among 3 cases of 46, XX / 46, XY, 1 case of true hermaphroditism, and the remaining 2 cases showed gonadal hypoplasia. This article explored the relationship between genomics and clinical manifestations and its etiology.