不孕不育或不良妊娠结局患者的9号染色体异态性类型

Types of chromosome 9 heteromorphism in patients with infertility or adverse pregnancy outcome

目的分析不孕不育或不良妊娠结局患者的9号染色体异态性类型。方法对8030例不孕不育或有不良妊娠结局的患者行外周血染色体核型分析,分析患者9号染色体异态性的类型。结果8030例不孕不育或不良妊娠结局的患者中共检查出9号染色体异态性携带者118例,检出率为1.47%。118例9号染色体异态性携带者中,9号染色体臂间倒位97例(占82.20%),核型均为inv(9)(p12;q13);9号染色体次缢痕增加20例(占16.95%);9号染色体次缢痕减少1例(占0.85%)。结论不孕不育或不良妊娠结局患者中9号染色体异态性中臂间倒位的发生率较高,其对生育的影响取决于发生倒位的区带,结合基因测序等分子检测技术能更好地进行生育指导和遗传咨询。

Objective To analyze the types of chromosome 9 heteromorphism in patients with infertility or adverse pregnancy outcome.Methods Peripheral blood chromosome karyotype analysis was conducted on 8030 patients with infertility or adverse pregnancy outcome to analyze the types of chromosome 9 heteromorphism in the patients.Results A total of 118 of 8030 patients with infertility or adverse pregnancy outcome were identified as carriers of chromosome 9 heteromorphism,with a detection rate of 1.47%.Ninety-seven of 118 carriers of chromosome 9 heteromorphism interpreted as pericentric inversion of chromosome 9,accounting for 82.20%,and all of their karyotypes were inv(9)(p12;q13),among which there were 20 of secondary constriction increase of chromosome 9,accounting for 16.95%;and one of secondary constriction decrease of chromosome 9,accounting for 0.85%.Conclusion The incidence rate of pericentric inversion of chromosome 9 heteromorphism is relatively high in patients with infertility or adverse pregnancy outcome,and its effect on fertility depends on the region of inversion occurrence.Reproductive guidance and genetic counselling could be preferably conducted in combination with molecular detection techniques such as gene sequencing.