儿童Y染色体的细胞遗传学研究及其临床效应分析

Cytogenetic study and clinical effect analysis of Y chromosome polymorphisms in male children

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：The aim of this study was to evaluate the correlation between chromosomal Y polymorphisms and the children in males,further to investigate it′s clinical effect. Methods： Peripheral blood lymphocyte culture and chromosomes conventional G-band analysis were conducted in 968 cases of male children,finally,retro analysis and statistical analysis were carried out. Results：the abnormal karyotype were found in 90 cases,there were 54 cases being chromosomal Y polymorphisms of them,in which 44 of 54 cases（48.89%）of male patients being big Y chromosome and 10 of 54 cases of male patients being small Y chromosome,the other 36 of 90 cases（40%）with abnormal karyotype associated with hermaphroditism. All of these 90 cases suffered from developmental retardation,mental retardation or genital dysplasia. Conclusion： chromosomal Y polymorphisms probably have some clinical effects in male children.