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대한생식의학회지 제32권 제2호 2010년
한국에서 반복자연유산을 하는 535쌍의 부부에 있어서의 세포 유전학적 연구
연세대학교 의과대학 산부인과학교실1, 임상의학 연구 센터 유전학 검사실2
황한성1,, 양은석1,홍원기1,김미순2,양영호1,2
Cytogenetic Study in 535 Couples with Recurrent Spontaneous Abortions in Korea
Han Sung Hwang1, Eun Suk Yang1, Won Ki Hong1, Mi Soon Kim2, Young Ho Yang1,2
1Department of Obstetrics and Gynecology, 2The Genetic Laboratory of the Medical Research Center, College of Medicine, Yonsei University, Seoul, Korea
.
Objective: The purposes of this study were to investigate the types and the incidences of chromosomal abnormalities, and to provide an explanation for the genetic causations of recurrent spontaneous abortions in Korean population. Methods: Cytogenetic studies were carried out in 535 couples with at least two spontaneous first trimester abortions from January 1981 to December 2003. For karyotype analysis, we used modified Moorhead method by Giemsa staining and Giemsa-Trypsin-Giemsa banding. Results: The overall incidence of chromosome abnormality was 32 out of 535 cases (5.98%). There were 25 cases (4.67%) of translocation and 7 cases (1.31%) of inversion. In translocation, 5 cases (0.93%) of Robertsonian translocation and 20 cases (3.74%) of reciprocal translocation were observed. In inversion, 6 cases (1.12%) of inversion of chromosome 9 and one case (0.19%) of inversion of chromosome 18 were found. Conclusion: In this study, overall chromosomal abnormality rate in couples with recurrent spontaneous abortions is much higher than that in the general population. So, chromosomal analysis should be offered for the prognostic information in genetic counseling such as prenatal diagnosis in couples with repetitive reproductive failure.
키워드 : Recurrent spontaneous abortion, Chromosomal abnormality, Translocation, Inversion
교신저자 : ob@yumc.yonsei.ac.kr
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