论文部分内容阅读
目的探讨Y染色体长度变异性与男性患儿之间的关系以及临床意义。方法常规外周血淋巴细胞培养制备染色体标本,G显带技术核型分析968例男性检测者,并对其检测结果进行回顾性分析和统计学分析。结果检出异常核型共90例,Y染色体长度异常者为54例,其中大Y染色体携带者44例,占男性异常核型的48.89%;10例小Y染色体患者,占男性异常核型的11.11%。余36例为两性畸形异常核型,占40%。这些患儿均有不同程度的精神运动发育迟缓、智力低下或外生殖器发育异常。结论 Y染色体的变异均会不同程度地在男性患儿中导致临床效应,有一定的临床意义。
Objective To investigate the relationship between Y chromosome length variability and male children and its clinical significance. Methods Chromosome samples were prepared by routine peripheral blood lymphocyte culture, and 968 male subjects were analyzed by G-banding karyotype analysis. The results of the detection were retrospectively analyzed and statistically analyzed. Results There were 90 cases with abnormal karyotype detected, 54 cases with abnormal Y chromosome length, of which 44 cases were with large Y chromosome carriers, accounting for 48.89% of the cases with abnormal Y chromosome. 10 cases with small Y chromosome accounted for male abnormal karyotype 11.11%. More than 36 cases of abnormalities karyotype abnormalities, accounting for 40%. These children have varying degrees of mental retardation, mental retardation or genital abnormalities. Conclusion The variation of Y chromosome will lead to different degrees of clinical effect in male patients, which has some clinical significance.