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1942年Klinefelter首先对先天性睾丸发育不全的患者进行了描述。自此凡具有该特征的病人即称为Klinefelter综合症。1959年Jacobs等证实了该征大多数患者的染色体核型为47,XXY。嗣后又相继发现了Kline-
In 1942, Klinefelter first described patients with congenital testicular hypoplasia. Since then, all patients with this feature are called Klinefelter syndrome. In 1959, Jacobs et al. Confirmed that the majority of patients with this syndrome had a karyotype of 47 and XXY. Later found Kline-