染色体变异与生殖异常的关系

目的探讨染色体变异与生殖异常的关系。方法对1,856例来诊的生殖异常患者的行染色体检查,其中对D/G组染色体着丝粒区(cen)和随体区增加(ps+)、副缢痕区增加(qh+)、9号染色体的臂间倒位(inv9)、Y长臂的增加(大Y或Yqh+)和减少(小Y或Yqh-)等染色体变异进行回顾性分析。结果1,856例患者检出染色体变异96例,检出率为5.2%;其中具有临床表现的共66例,占68.8%。各种类型染色体变异检出例数和检出率、具有临床表现的例数和构成比分别为:大Y32例、检出率1.7%,具有临床表现22例、构成比33.8%;小Y12例、检出率0.6%,具有临床表现10例、构成比15.4%;inv(9)17例、检出率0.92%,具有临床表现12例、构成比18.5%;ps+19例、检出率1.0%,具有临床表现13例、构成比20.0%;qh+增加16例、检出率0.9%,具有临床表现9例、构成比13.8%。结论染色体变异与生殖异常的关系密切。

A study on the relationship between chromosomal variations and reproduction abnormality

Objective： To explore the relationship between chromosomal variations and reproductive abnormality. Methods： We examined the chromosomes of 1856 patients who had reproductive abnormalities. The chromosomal variations including centric region （cen） and SAT-zone adding （ps＋）, secondary constriction adding （qh＋） in D/G group, pericentric inversion of chromosome 9 （inv（9）） and long arm adding or reducing of Y chromosome （large Y chr or small Y chr） were retrospectively analyzed. Results： Ninety-six patients （5.2%） were found to have chromosomal variations and 66 of them had clinical manifestations （68. 8%）. For individual chromosomal variation, the number of the patients with the detected variation, the detection rate, the number of the patient with clinical manifestation and the constituent ratio were 32, 1.7%, 22 and 33.8% respectively for large Y chr; 12, 0.6%, 10 and 15.4% respectively for small Y chr; 17, 0. 92%, 12 and 18. 5% respectively for inv（9）; 19, 1. 0%, 13 and 20.0% for ps＋ 16, 0.9%, 9 and 13.8% respectively for qh＋. Conclusions： Chromosomal variation is closely related to reproductive abnormality.