Objective:To analyze the relationship between karyotypes and clinic features of patients with primary amenorrhea. Method:G-banding was employed in karyotype analysis of patients with primary amenorrhea. Results:Karyot...Objective:To analyze the relationship between karyotypes and clinic features of patients with primary amenorrhea. Method:G-banding was employed in karyotype analysis of patients with primary amenorrhea. Results:Karyotype analysis of 468 patients with primary amenorrhea revealed that 255 patients(54.49%) had normal female karyotypes and 213 patients(45.41%) 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 X-autosome translocation.All primary amenorrhea patients with deletion or break-up in Xp11.1-11.4 were short in stature. Conclusion:One of the main reasons of primary amenorrhea was chromosome abnormalities,especially sex chromosome abnormalities.Karyotype analysis should be routinely applied to detect primary amenorrhea patients. Xp11-12 may be critical to development of stature.展开更多
文摘Objective:To analyze the relationship between karyotypes and clinic features of patients with primary amenorrhea. Method:G-banding was employed in karyotype analysis of patients with primary amenorrhea. Results:Karyotype analysis of 468 patients with primary amenorrhea revealed that 255 patients(54.49%) had normal female karyotypes and 213 patients(45.41%) 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 X-autosome translocation.All primary amenorrhea patients with deletion or break-up in Xp11.1-11.4 were short in stature. Conclusion:One of the main reasons of primary amenorrhea was chromosome abnormalities,especially sex chromosome abnormalities.Karyotype analysis should be routinely applied to detect primary amenorrhea patients. Xp11-12 may be critical to development of stature.
