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目的报告本科室生育能力异常人群的染色体多态性及畸变检出率的结果。方法回顾性分析从2010年1月—2015年12月就诊于安徽医科大学第一附属医院生殖中心生育功能异常(包括不孕不育、少弱畸精子症、胚停、复发性流产及胎儿畸形等)的8084例患者,于我中心行外周血细胞遗传学G显带染色体核型分析的检查结果。结果 8084例生育功能异常患者中,检出染色体变异核型1329例,占比16.43%。其中包括染色体多态性1009例,占比12.48%(1009/8084),染色体多态性的患者中,染色体长臂次缢痕qh+患者749例(包括1qh+、9qh+、16qh+共545例,Yqh+共210例),D/G组染色体短臂及随体多态性变异160例,9号染色体臂间倒位75例,46,XY,inv(y)3例,其他染色体(非9号及Y染色体)臂间倒位14例,小Y共2例。检及异常核型的染色体共320例,占比3.96%(320/8084),其中染色体易位患者186例(含罗氏易位40例,染色体相互易位145例);嵌合体12例;46,X,i(X)4例;46,X,del(X)3例;46,X,del(Y)2例;45,XO有7例;47,XN,+21检出5例;47,XXX 8例;47,XXY 55例;47,XYY 7例;47,XY,+mar4例;48,XY,+mar,+mar 1例;其他较少见异常核型27例。结论人类染色体多态性及畸变与人类生育能力异常(不孕不育、少弱畸精子症、胚停、复发性流产及胎儿畸形)等可能存在相关性。
Objective To report the results of the chromosomal polymorphisms and the detection rate of aberrations in people with abnormal fertility in this department. Methods Retrospective analysis from January 2010 to December 2015 at the First Affiliated Hospital of Anhui Medical University reproductive center dysplasia (including infertility, oligoasthenospermia, embryo stop, recurrent spontaneous abortion and fetal malformation Etc.) of 8084 patients in our center of peripheral blood cytogenetic G-banding karyotype analysis results. Results Among 8084 cases of dysplastic children, 1329 cases of chromosomal aberrations were detected, accounting for 16.43%. Among them, there were 1,009 cases of chromosomal polymorphism, accounting for 12.48% (1009/8084). Of the patients with chromosome polymorphism, 749 cases (including 545 cases with 1qh +, 9qh +, 16qh +, Yqh + 210 cases), D / G group 160 cases of short arm and satellite polymorphism variation, 75 cases of internodal inversion on chromosome 9, 46 cases of XY, inv (y) 3 cases, other chromosomes Chromosome) arm inversion in 14 cases, a total of 2 cases of small Y. There were 320 cases of chromosomal abnormalities and abnormal karyotypes, accounting for 3.96% (320/8084), including 186 cases of chromosomal translocations (including 40 cases of Roche translocation and 145 cases of chromosomal translocation), 12 cases of mosaicism , X, del (X) in 4 cases; 46, X, del (X) in 3 cases; 46, X, del 47 cases, 8 cases of XX, 47 cases of XXY, 47 cases of XYY, 47 cases of XY and 4 cases of marx, 48 cases of XY, + mar and + mar, and 27 cases of other rare karyotypes. Conclusions Human chromosome polymorphisms and aberrations may be related to abnormal human fertility (infertility, oligozoospermia, embryo stop, recurrent spontaneous abortion and fetal malformation).