X染色体末端重排一例

来源 :中华医学遗传学杂志 | 被引量 : 0次 | 上传用户:qghlxj1399
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患者 社会性别女 ,2 0岁。因原发闭经于 2 0 0 0年 9月 4日就诊。智力无异常。父母非近亲婚配。家族中否认遗传病和其他特殊病史。体查 :身高 145 cm,体重 37kg。面部多痣 ,眼距略宽 ,肘外翻。双乳房发育差、呈幼稚型 ,乳头直径 0 .8cm,乳晕直径 2 .7cm。双侧腋毛数根。外阴呈 Patient gender Female, 20 years old. Because of the primary amenorrhea on September 4, 2000 treatment. No abnormal intelligence. Parents non-relatives marriage. Families deny genetic disease and other special medical history. Physical examination: height 145 cm, weight 37kg. Facial mole, slightly wider eyes, elbows valgus. Double breast poor development, was naive, nipple diameter 0.8cm, areola diameter 2.7cm. Both sides of the armpit number of roots. Genital was
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患儿 女 ,2岁 ,第 1胎 ,7个月早产。因咳、喘 3天伴浮肿 1天入院。患儿平时易患感冒 ,近 2岁才会走路。其母孕期无感染、服药及放射性物质接触史。父母体健 ,非近亲结婚 ,表
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