克氏综合征(Klinefelter syndrome)又称原发性小睾丸症。1942年由Klinefelter等人首先发现,并加以描述。本病的临床表现是男性、小睾九、无或少精子,青春期常出现男性乳房发育,呈去睾者体征;尿内促性腺激素排量增加。1956年Plunkett等人,发现患者X染色质出现率和女性相同。1959年Jacobs首先报告了克氏综合征的染色体组型为47,XXY。此病乃是男性性腺功能低下常见的病因。现将我们对一例克氏综合征患者的细胞遗传学研究结果报告如下: 材料和方法患者黄××,男,28岁。因青春期生殖器不发育,乏力就诊。自幼躯体生长迅速,高于其父及其兄弟。父育龄43岁,母育龄39 Klinefelter syndrome is also called primary testis. First discovered by Klinefelter et al. In 1942 and described. The clinical manifestations of the disease is male, small testis nine, no or less sperm, adolescent male breast development often showed signs of testosterone; increased urinary gonadotropin output. In 1956, Plunkett et al. Found that patients had the same appearance of X-chromosomes as women. In 1959, Jacobs first reported Kirschner’s syndrome chromosome 47, XXY. The disease is a common cause of male hypogonadism. Now we report the results of a cytogenetic study on a patient with Klinefelter’s syndrome as follows: Materials and Methods Patient Huang XX, male, 28 years old. Due to adolescent genital development, fatigue treatment. Since childhood, the body grew rapidly, higher than its father and his brother. Parental Reproductive age 43 years old, motherhood 39 years