Cytogenetics studies of 468 patients with primary amenorrhea

VernacularTitle:468例原发性闭经患者细胞遗传学分析
Author: Hong YU ; Xuming BIAN ; Juntao LIU ; Na HAO ; Jing ZHOU ; Shanying LIU
Publication Type:Journal Article
Keywords: Amenorrhea/GE; Karyotyping; Phenotype
From: Journal of Chinese Physician 2011;13(1):44-48
CountryChina
Language:Chinese
Abstract: 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 chromosome, 57 patients with 46, XY karyotype, 8 patients with abnormal autosome and one patient with Xautosome translocation. 75.52% primary amenorrhea patients with short stature had abnormal X chromosome, and all primary amenorrhea patients with deletion or break-up of Xp11. 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.