Keung Yi-Kong, Buss David, Chauvenet Allen, Pettenati Mark
Section of Hematology-Oncology, Comprehensive Cancer Center of Wake Forest University, Medical Center Boulevard, Winston-Salem, NC 27157-1082, USA.
Cancer Genet Cytogenet. 2002 Nov;139(1):9-13. doi: 10.1016/s0165-4608(02)00626-x.
Klinefelter syndrome was first described in 1942 as an endocrine disorder characterized by gynecomastia, hypogonadism, small testes, and elevated levels of follicle-stimulating hormone. An extra X chromosome (i.e., 47,XXY) was subsequently demonstrated in these patients and an increased incidence of leukemia and lymphoma has been described. We report a retrospective study of a series of unselected patients with Klinefelter syndrome diagnosed by cytogenetic studies and the occurrence of hematologic malignancies. The literature is also reviewed.
克兰费尔特综合征于1942年首次被描述为一种内分泌疾病,其特征为男性乳腺增生、性腺功能减退、睾丸小以及促卵泡激素水平升高。随后在这些患者中发现了一条额外的X染色体(即47,XXY),并且已有报道称白血病和淋巴瘤的发病率有所增加。我们报告了一项对一系列通过细胞遗传学研究确诊的克兰费尔特综合征患者以及血液系统恶性肿瘤发生情况的回顾性研究。同时也对相关文献进行了综述。