117例9号染色体倒位患者外周血染色体核型分析  

Chromosome karyotyping in peripheral blood of 117 patients with inversion of chromosome 9

作　　者：郭东花[1] 任晨春[2] 梁玥宏[2] 王文靖[2] 张海霞[2] 杨微微[2] 

机构地区：[1]天津医科大学,天津300070 [2]天津市中心妇产科医院检验中心遗传室,天津300100

出　　处：《中国妇幼保健》2017年第8期1728-1730,共3页Maternal and Child Health Care of China

摘　　要：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 explore the clinical effect of inversion of chromosome 9 [inv（ 9） ]. Methods A total of 16 927 patients diagnosed as infertility,azoospermia or oligozoospermia,congenital malformations,premature labor,missed abortion,spontaneous abortion,and female primary or secondary amenorrhea in Tianjin Central Hospital of Gynecology and Obstetrics were collected as research object. Peripheral blood samples were abstracted to conduct chromosome culture of lymphocytes,routine slice making,and G banding,chromosomal karyotype analysis was performed under microscope. Results Among 16 927 patients,117 patients were diagnosed as inv（ 9）,the total detection rate was 0. 69%,including 86 patients with 46,XN,inv（ 9）（ p11q12）,26 patients with 46,XN,inv（ 9）（ p11q13）,1patient with 46,XX,inv（ 9）（ p11q13）,inv（ 9）（ p11q12）,and 4 patients with other types of inv（ 9）. After analysis of six clinical manifestations,the clinical manifestations of azoospermia or oligozoospermia patients with inv（ 9）（ p11q12） and inv（ 9）（ p11q13） were different,there was statistically significant difference（ P〉0. 05）. There was no statistically significant difference in the other five clinical manifestations（ P〈0. 05）. Conclusion Inv（ 9） can result in a certain clinical effect. Inv（ 9）（ p11q12） and inv（ 9）（ p11q13） genotypes have the same effect in infertility,congenital malformations,premature labor,missed abortion,spontaneous abortion,the clinical manifestations should be paid more attention to.

关 键 词：核型分析 INV(9) 临床遗传咨询 

分 类 号：R714.5[医药卫生—妇产科学]