CAJ | 학술논문

目的：探讨染色体异常、染色体多态性与不孕不育、不良妊娠等生殖异常的关系。方法收集本所近5年生殖异常(不孕不育和不良妊娠)患者150例，行外周血淋巴细胞培养及染色体制片，G显带分析。结果检出染色体异常9例（克氏综合征2例、特纳综合征2例、平衡易位2例、罗氏易位2例和倒位1例)，染色体异常发生率为6.0%；检出染色体多态性32例，染色体多态性发生率为21.33%。其中，D/Gs+和1,9,16qh+是最主要的染色体多态类型。性染色体异常和性染色体多态性主要发生在不孕不育组；常染色体异常和常染色体多态性主要发生在不良妊娠组。结论染色体异常和染色体多态性是可能导致不孕不育及不良妊娠的重要原因，对生殖异常患者进行染色体检查很有必要。
목적：탐토염색체이상、염색체다태성여불잉불육、불량임신등생식이상적관계。방법수집본소근5년생식이상(불잉불육화불량임신)환자150례，행외주혈림파세포배양급염색체제편，G현대분석。결과검출염색체이상9례（극씨종합정2례、특납종합정2례、평형역위2례、라씨역위2례화도위1례)，염색체이상발생솔위6.0%；검출염색체다태성32례，염색체다태성발생솔위21.33%。기중，D/Gs+화1,9,16qh+시최주요적염색체다태류형。성염색체이상화성염색체다태성주요발생재불잉불육조；상염색체이상화상염색체다태성주요발생재불량임신조。결론염색체이상화염색체다태성시가능도치불잉불육급불량임신적중요원인，대생식이상환자진행염색체검사흔유필요。
Objective To analyze the relationship of abnormal chromosome, chromosome polymorphism with infertility, adverse pregnancy. Methods One hundred and fifty patients with reproductive abnormalities were collected in the recent five years. Then the peripheral blood were cultured and the cells were collected for chromo-some preparation, G banding, karyotype analysis. Results Nine cases were detected with chromosomal abnormality (including 2 cases of Klinefelter syndrome, 2 cases of Turner syndrome, 2 cases of balanced translocation, 2 cases of Robertsonian translocation, and 1 case of inversion), and the abnormal rate was 6.0%. Among the 150 cases, 32 were detected with chromosome polymorphism, with the polymorphism rate of 21.33%. Abnormality and polymorphism of sex chromosome mainly influenced infertility rate, and the abnormality and polymorphism of euchromosome mainly influenced adverse pregnancy rate. Conclusion Abnormalities and polymorphism of chromosome is an important reason of infertility and adverse pregnancy. It is necessary to perform chromosome examination for patients with repro-ductive abnormalities.