Foresta C, Galeazzi C, Bettella A, Stella M, Scandellari C
Third Chair of Medical Pathology, University of Padova, Italy.
J Clin Endocrinol Metab. 1998 Jan;83(1):203-5. doi: 10.1210/jcem.83.1.4480.
In this study we have investigated the arrangement of sex chromosomes in sperm from two severe oligozoospermic patients, apparently affected by the classic form of Klinefelter's syndrome (KS). Multicolor fluorescence in situ hybridization has been used to recognize chromosomes X, Y, and 8 in sperm from patients and 10 fertile men with normal 46,XY karyotype. In patients affected by KS, we detected important numerical sex chromosome abnormalities (approximately 20%). In all normal fertile men, X- and Y-bearing spermatozoa were present in a 1:1 ratio. On the contrary, in our patients the frequency of 23,Y-bearing sperm was strongly reduced compared with that of both 23,Y sperm in the controls and 23,X sperm in the same subject affected by KS, resulting in a 23,X-/23,Y-bearing sperm ratio of 2:1. Moreover, the frequency of 24,XY disomic sperm was significantly higher in the absence of the 22,0 hypoaploidy expected from a common origin from a nondysjunction during the first meiosis in a normal 46,XY cell. In conclusion, the results of the present study demonstrate a peculiar distribution of sex chromosomes in sperm from two patients with KS, in agreement with the hypothesis that 47,XXY germ cells are able to complete the meiotic process by producing mature spermatozoa.
在本研究中，我们调查了两名严重少精子症患者精子中性染色体的排列情况，这两名患者显然患有经典型克兰费尔特综合征（KS）。我们使用多色荧光原位杂交技术来识别患者以及10名核型为正常46,XY的可育男性精子中的X、Y和8号染色体。在患有KS的患者中，我们检测到了重要的性染色体数目异常（约20%）。在所有正常可育男性中，携带X和Y的精子比例为1:1。相反，在我们的患者中，与对照组中携带23,Y的精子以及同一患有KS的患者中携带23,X的精子相比，携带23,Y的精子频率大幅降低，导致携带23,X/23,Y的精子比例为2:1。此外，在没有正常46,XY细胞第一次减数分裂期间非整倍体分离产生的常见起源所预期的22,0亚二倍体的情况下，携带24,XY双体的精子频率显著更高。总之，本研究结果表明两名KS患者精子中性染色体的分布具有特殊性，这与47,XXY生殖细胞能够通过产生成熟精子完成减数分裂过程的假设一致。
