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目的通过对19例小睾丸患者染色体核型的分析,探讨小睾丸患者染色体核型对生育的影响。方法对19例小睾丸患者进行外周血淋巴细胞培养,G显带进行核型分析。结果 19例小睾丸患者中,1例为男性综合征,核型为46,XX,占小睾丸患者的0.53%(1/19);其余18例均为染色体数量异常,在这18例患者中,16例核型为47,XXY(又称klinefelter综合征),占小睾丸患者的84.2%(16/19);还有2例嵌合型患者,占小睾丸患者的10.5%(2/19)。在嵌合型患者中,1例为数目异常嵌合,核型为47,XXY/46,XY(10%);另1例为数目和结构异常嵌合,核型为47,XXY,del(14)(p13)。结论对小睾丸患者进行染色体核型分析,可以帮助患者找出不孕症的原因,明确诊断。
Objective To analyze the chromosomal karyotypes in 19 cases of small testis to investigate the effect of chromosome karyotype on reproductive development in patients with small testicles. Methods Twenty-nine patients with small testicles were cultured in peripheral blood lymphocytes and analyzed by G-banding. Results Among the 19 patients with small testicles, 1 was a male syndrome with a karyotype of 46 and XX, accounting for 0.53% (1/19) of the patients with small testicles. The other 18 cases were all chromosomal abnormalities. Among the 18 patients , 16 karyotype 47, XXY (also known as klinefelter syndrome), accounting for 84.2% (16/19) of patients with small testicles; there are 2 cases of chimeric patients, accounting for 10.5% of patients with small testicles ). Among the chimerism patients, one patient had abnormal chimerism, the karyotype was 47, XXY / 46, XY (10%); the other one was chimeric with a number of abnormalities and the karyotype was 47, XXY, del 14) (p13). Conclusion Small kytoplasm chromosome karyotype analysis can help patients find out the cause of infertility, a clear diagnosis.