摘要
目的分析原发性闭经患者染色体细胞核型与临床特征的关系。方法原发闭经患者行外周血淋巴细胞培养，常规G显带染色体核型分析（必要时行C显带）。结果468例原发闭经患者中46，XX核型为255例（54．49％），41种异常核型213例（45．51％），包括X染色体异常143例、X—Y染色体异常4例、46，XY女性57例、常染色体异常8例、X-常染色体易位1例。75．52％身材矮小原发闭经患者X染色体异常，Xp11．1—11．4与Xp21—22缺失或断裂的患者均出现身材矮小。结论人类细胞染色体异常是原发闭经的重要原因之一，应常规行细胞遗传学检查。临床表型与染色体特殊部位有一定关系，Xp11．1—11．4与xp21—22可能与身高发育有关。
Objective To analyze the relationship between karyotypes and clinic features of patients with primary amenorrhea. Method Karyotype analysis of patients with primary amenorrhea was performed by using G-banding technique. Results Karyotype analysis of 468 patients with primary amenorrhea revealed that 255 patients （54.49%） had normal female karyotypes and 213 patients （45.51%） had abnormal karyotypes, including 143 patients with abnormal X chromosome, 4 patients with mosaic X - Y chro- mosome, 57 patients with 46, XY karyotype, 8 patients with abnormal autosome and one patient wi＇th X - autosome transloeation. 75.52% primary amenorrhea patients with short stature had abnormal X ＇chromosome, and all primary amenorrhea patients with deletion or break-up of Xpl 1.1 - 11.4 and Xp21 - 22 were short statures. Conclusion One of the main reasons of primary amenorrhea was chromosome abnormity, especial heterosome abnormity. Karyotype analysis should be used to detect primary amenorrhea patients in regular. There might be relationship between height improvement and the abnormity of Xp11.1 - 11.4 and Xp21 - 22.
出处
《中国医师杂志》
CAS
2011年第1期44-48,共5页
Journal of Chinese Physician
