Klinefelter syndrome

Clinical characteristics of men with non-mosaic Klinefelter syndrome in northeastern China: implications for genetic counseling

M. Zhang, Fan, H. - T., Zheng, H. - S., Zhang, Q. - S., Feng, S. - Q., and Li, R. - W., Clinical characteristics of men with non-mosaic Klinefelter syndrome in northeastern China: implications for genetic counseling, vol. 14, pp. 10897-10904, 2015.

Klinefelter syndrome (KS) is the most common genetic cause of male infertility. Widespread development in assisted reproductive technology has provided non-mosaic KS patients with the opportunity of having biological children. Testosterone replacement therapy and micro-dissection testicular sperm extraction are effective sperm retrieval techniques for KS patients. Despite the success of sperm retrieval and intracytoplasmic sperm injection (ICSI), some areas of early aggressive hormonal spermatogenesis and appropriate management of KS remain controversial.

The azoospermia factor locus-c region was found to be related to Klinefelter syndrome in Turkish patients

C. Ceylan, Ceylan, G. G., and Serel, T. A., The azoospermia factor locus-c region was found to be related to Klinefelter syndrome in Turkish patients, vol. 9, pp. 1229-1233, 2010.

We looked for a possible association between Klinefelter syndrome (KFS) and microdeletions in the Y chromosome in Turkish KFS patients. We examined the frequency of KFS in male patients with proven non-obstructive azoospermia and the types of Y chromosome microdeletions in these KFS patients. Fifty azoospermic patients and 50 fertile men were included in this study. KFS was found in 14 azoospermic patients. Y chromosome microdeletions were found in eight KFS patients. Azoospermia factor locus c (AZFc) was the most commonly deleted interval in KFS patients.

Detection of Klinefelter syndrome by G-banding analysis combined with primed in situ labeling technique

J. - L. Gao, Ding, X. - P., Liu, D. - S., and Zhu, Y. - J., Detection of Klinefelter syndrome by G-banding analysis combined with primed in situ labeling technique, vol. 10, pp. 4026-4033, 2011.

Primed in situ labeling (PRINS) technique is an alternative to in situ hybridization for rapid chromosome screening. We employed triple-color PRINS technique to detect chromosomal abnormalities in Klinefelter syndrome patients diagnosed by G-banding karyotype analysis. Among 1034 infertile male patients, 134 were found to be cytogenetically abnormal, including 70 with chromosomal number abnormalities and 64 with chromosomal structure abnormalities. Among these cytogenetically abnormal patients, 56 were diagnosed as having Klinefelter syndrome.

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