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目的探究536对反复自然流产夫妇的染色体核型异常情况。方法对2014年5月至2015年12月在我院就诊的536对反复自然流产夫妇进行回顾性分析。采用外周血染色体检查染色体核型。结果在536对反复自然流产夫妇中共检出染色体核型异常73例(均为夫妇一方),检出率为6.80%(73/1072)。染色体核型多态性51例,检出率为4.75%(51/1072)。其中男性染色体核型异常检出构成比为65.75%(48/73),高于女性染色体核型异常构成比34.25%(25/73)。常染色体异常核型总计45例,构成比为61.64%(45/73),包括平衡易位21例、罗氏易位6例、倒位18例,主要涉及1,2,3,4,5,6,7,8,9,11,13,22等号染色体。性染色体异常核型总计28例,检出构成比为38.36%(28/73),包括小Y 6例、倒位11例、Y长臂有随体2例、Turner综合征2例以及Turner综合征嵌合体7例。在本研究中共计53例染色体多态性核型,包括48例常染色体多态性核型核2例性染色体多态性(均为大Y)。结论染色体核型异常是造成流产的相关因素之一,其中男性染色体异常核型比例相对较高。并且染色体多态性的发生率也较高,临床上进行细胞遗传学检查具有重要意义。
Objective To investigate the chromosomal abnormalities in 536 pairs of recurrent spontaneous abortion. Methods A retrospective analysis of 536 pairs of spontaneous abortion couples treated in our hospital from May 2014 to December 2015 was performed. Chromosome karyotypes were examined using peripheral blood chromosomes. Results Among 536 pairs of recurrent spontaneous abortion couples, 73 cases of chromosomal abnormalities were found in the Chinese couple (both were couples), the detection rate was 6.80% (73/1072). Chromosome karyotype polymorphism in 51 cases, the detection rate was 4.75% (51/1072). The detection rate of male karyotype was 65.75% (48/73), which was higher than that of female chromosome (34.25%, 25/73). A total of 45 cases of autosomal abnormal karyotype, the constituent ratio of 61.64% (45/73), including the balance of translocation in 21 cases, Roche translocation in 6 cases, 18 cases of inverted, mainly related to 1,2,3,4,5, 6, 7, 8, 9, 11, 13, 22 chromosomes. There were 28 karyotypes of abnormal chromosomal abnormalities, with a detectable proportion of 38.36% (28/73), including 6 cases of small Y, 11 cases of inverted position, 2 cases of Y arm with satellites, 2 cases of Turner’s syndrome and Turner’s syndrome Zheng chimerism in 7 cases. In this study, a total of 53 chromosome karyotypes were identified, including 48 autosomal polymorphism karyotype nuclei and 2 chromosomal polymorphisms (both large Y). Conclusion Chromosomal abnormalities are one of the factors that cause abortion. Among them, the proportion of male karyotypes is relatively high. And the incidence of chromosomal polymorphisms is also high, clinical cytogenetic examination of great significance.