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目的探讨9号染色体倒位[inv(9)]的临床效应。方法选取2010年10月-2016年4月,在天津市中心妇产科医院就诊原因为不孕不育、男性少弱精症、胎儿畸形或有畸形史、早产、滞留流产、自然流产和女性原发或继发闭经等的16 927例患者为研究对象。抽取外周血进行淋巴细胞染色体培养,常规制片并进行G显带处理,显微镜下进行染色体核型分析。结果在16 927份样本中,共检测出携带inv(9)患者117例,总检出率为0.69%。其中,46,XN,inv(9)(p11q12)核型者86例,46,XN,inv(9)(p11q13)核型者26例,46,XX,inv(9)(p11q13),inv(9)(p11q12)核型者1例,涉及9号染色体上其他区带倒位4例。经过对不孕、男性少弱精症、胎儿畸形及有畸形史、早产、滞留流产、自然流产6种临床表现的统计学分析,男性少弱精症的临床表现存在inv(9)(p11q12)核型和inv(9)(p11q13)核型上表现不同,差异有统计学意义(P<0.05),其余5个方面在临床表现上差异无统计学意义(P>0.05)。结论 inv(9)可导致一定临床效应,特别是inv(9)(p11q12)核型与inv(9)(p11q13)核型在不孕、胎儿畸形及有畸形史、早产、滞留流产及自然流产5个方面作用基本一致,应重视其临床表现。
Objective To investigate the clinical effect of chromosome 9 inversions [inv (9)]. Methods From October 2010 to April 2016, the causes of infertility, oligozoospermia, history of fetal malformation or malformation, premature delivery, abortion, spontaneous abortion and women in Tianjin Obstetrics and Gynecology Hospital 16 927 patients, including primary or secondary amenorrhea, were included in the study. Peripheral blood was collected for lymphocyte chromosome culture, routine preparation and G banding treatment, microscopic chromosome karyotype analysis. Results Among 16 927 samples, 117 cases were detected with inv (9), the total detection rate was 0.69%. There were 26 cases of 46, XN, inv (9) (p11q12) karyotype and 46 cases of XN, inv (9) (p11q13) 9) (p11q12) karyotype in 1 case, involving the other chromosomes on chromosome 9 in 4 cases. After infertility, oligozoospermia, fetal malformations and history of malformations, premature delivery, abortion, spontaneous abortion 6 kinds of clinical manifestations of statistical analysis, the clinical manifestations of oligozoospermia inv (9) (p11q12) Karyotype and inv (9) (p11q13) karyotype showed different, the difference was statistically significant (P <0.05), the other five aspects of the clinical manifestations showed no significant difference (P> 0.05). Conclusions Inv (9) may lead to certain clinical effects, especially the inv (9) (p11q12) karyotype and the inv (9) (p11q13) karyotype in infertility, fetal malformations and malformations, premature birth, abortion and spontaneous abortion The role of the five aspects of the same, should pay attention to their clinical manifestations.