CAJ | 학술논문

目的：探讨性染色体异常导致不孕不育的遗传效应。方法：对来我院生殖中心门诊的15890例不孕不育患者进行细胞遗传学分析。采集外周血，肝素抗凝，按照常规方法制备染色体标本进行G显带核型分析。结果：共检出性染色体异常147例，检出率为0.93%，其中性染色体数目异常74例（50.3%），性染色体嵌合体39例（26.6%），性染色体结构异常4例（2.7%），染色体多态30例（20.4%）。结论：性染色体异常导致性分化紊乱及生殖缺陷，是引起不孕不育的重要原因之一，对性分化及生殖异常者进行细胞遗传学分析，有助于明确诊断和及时治疗。
목적：탐토성염색체이상도치불잉불육적유전효응。방법：대래아원생식중심문진적15890례불잉불육환자진행세포유전학분석。채집외주혈，간소항응，안조상규방법제비염색체표본진행G현대핵형분석。결과：공검출성염색체이상147례，검출솔위0.93%，기중성염색체수목이상74례（50.3%），성염색체감합체39례（26.6%），성염색체결구이상4례（2.7%），염색체다태30례（20.4%）。결론：성염색체이상도치성분화문란급생식결함，시인기불잉불육적중요원인지일，대성분화급생식이상자진행세포유전학분석，유조우명학진단화급시치료。
Objective:To explore the genetic effect of the infertility caused by sex chromosomal abnormalities.Methods:Cytogenetic analysis was performed on 15890 infertility outpatients from the Reproductive Medicine Center. Peripheral blood was collected using heparin as anticoagulant and analyzed by karyotype analysis.Results:: 147 cases were positive for sex chromosome abnormality (detectable rate: 0.93%). 74 cases involved in nmerical abnormalities of sex chromosomes (account for 50.3%). 39 cases involved in abnormal karyotype chimeras (account for 26.6%).4 cases involved in abnormal sex chromosome structure (2.7%). 30 cases involved in karyotype polymorphism of Y chromosome (20.4%).Conclusions:Sex chromosomal abnormalities brought about sex differentiation disorders and resulted in infertility. Cytogenetic analysis is useful for both diagnoses as well as for future handling of the disease in times.