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克兰菲特氏综合征(Klinefelter’s Syndrome,以下简称克氏综合征),又称先天性睾丸发育不全症或原发性小睾丸症,是一种性染色体异常引起的疾病。1942年由Klinefelter’s等首先报道。本病临床特征为男性小睾丸,无精子,乳房发育,呈去睾者体态,尿内往往有促性腺激素排出量增加等。1956年Plunkett等[1]报道,此病患者口腔粘膜上皮细胞X性染色质出现的百分率和正常女性相同。1959年Jacobs等[2]报道克氏综合征患者的染色体核型为47,XXY。世界各地近年陆续报道的克氏综合征核型大多数是47,XXY,其它核型比较少见。本文报告1例其核型为48,XXXY的克氏综合征,并就其细胞遗传学的有关问题略加讨论。
Klinefelter’s Syndrome (Klinefelter’s Syndrome, hereinafter referred to as Kirschner’s syndrome), also known as congenital testicular hypoplasia or primary testicular syndrome, is a sex-chromosome abnormalities caused by the disease. 1942 by Klinefelter’s first reported. The clinical features of the disease for male small testicles, no sperm, breast development, was to testicular body posture, urine often have increased gonadotropin output and so on. 1956 Plunkett et al [1] reported that the incidence of oral x-ray epithelial cells in patients with the same percentage of X-like chromatin and normal women. 1959 Jacobs et al [2] reported Klinefelter’s chromosome karyotype 47, XXY. In recent years, Krones syndrome karyotype reported in succession in recent years all over the world are mostly 47 and XXY, while other karyotypes are rare. This article reports 1 case of karyotype with its karyotype of 48, XXXY, and its cytogenetics related to a little discussion.