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目的对反复自然流产患者行染色体核型分析。方法 2006年1月～2010年12月来我院就诊有反复自然流产史的夫妇479对,取双方外周血行染色体核型分析。结果 479对反复自然流产的夫妇中有68对夫妇涉及染色体异常,检出率为14.2%(68/479),男性异常核型52例,女性16例;其中大Y核型最多36例,占男受检人数的7.52%,与正常对照组相比无统计学差异(P>0.05);平衡易位13例,罗伯逊易位6例,占总受检人数的1.98%(19/958);2例9号染色体和1例与11号染色体为臂间倒位;随体变异6例;1、9号次缢痕延长分别2例。结论染色体异常在优生遗传咨询过程中应引起高度重视,对反复自然流产患者应积极进行双方染色体检查。各种异常核型与反复自然流产之间的关系需要积累更多病例行统计学分析,并结合分子细胞遗传学技术进一步了解其机制。
Objective To analyze the karyotypes of patients with recurrent spontaneous abortion. Methods From January 2006 to December 2010, 479 couples with history of spontaneous abortion in our hospital were treated, and the karyotypes of peripheral blood were analyzed. Results Of the 479 pairs of couples with recurrent spontaneous abortion, 68 couples were involved in chromosomal abnormalities with a detectable rate of 14.2% (68/479), 52 males with abnormal karyotypes and 16 females, of which 36 were large Y karyotypes, accounting for There was no significant difference between the male subjects and the control subjects (P> 0.05). There were 13 cases of balanced translocations and 6 cases of Robertsonian translocations, accounting for 1.98% (19/958) of the total subjects. 2 cases of chromosome 9 and 1 case and chromosome 11 were inter-arm inversion; six cases with variation of body; Conclusions Chromosomal abnormalities should be paid great attention in the genetic counseling of eugenics. Chromosome examination should be carried out for both patients with recurrent spontaneous abortion. The relationship between various abnormal karyotypes and recurrent spontaneous abortion needs to accumulate more cases of statistical analysis, combined with molecular cytogenetic techniques to further understand the mechanism.