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형광직접보합법을 이용한 미배양 양수세포에서 산전 이수배수체 확인
설혜원,고희정,송남희,김숙령,이화진,오선경,박중신,전종관,윤보현,신희철,문신용,Seol, Hye-Won,Ko, Hee-Jung,Song, Nam-Hee,Kim, Sook-Ryoung,Lee, Hwa-Jin,Oh, Sun-Kyung,Park, Joong-Shin,Jun, Jong-Kwan,Yoon, Bo-Hyun,Syn, Hee-Chul,Moon, Shin- 대한생식의학회 2003 Clinical and Experimental Reproductive Medicine Vol.30 No.3
Objective: The aim of the present study was to evaluate the clinical efficiency of fluorescent in situ hybridization (FISH) in the prenatal diagnosis of chromosomal aneuploidy. Methods: We reviewed data of 268 cases to identify women undergoing genetic amniocentesis at cytogenetic laboratory, from January 2000 to December 2002. Amniotic fluid was submitted for both rapid FISH on uncultured interphase amniocytes using a commercially available DNA probe for chromosome 13, 18, 21, X, Y and standard karyotyping on cultured metaphase amniocytes. Results from FISH and full karyotype were compared. Results: There were 251 cases (84%) normal and 17 cases (16%) abnormal in FISH results. All 17 cases of trisomy 13, 18, 21 including two cases of mosaicism and sex chromosome aneuploidies which are detected by FISH were confirmed with conventional cytogenetics and there was no false positive result. Twenty two cases had karyotypically proven abnormalities that could not have been detected by the targeted FISH. Conclusion: Interphase FISH analysis of uncultured amniotic fluid cells has been shown to be an effective and reliable technique for rapid fetal aneuploidy screening during pregnancy as an adjunctive test to conventional cytogenetics.
미배양 양수 세포에서 Fluorescence in situ Hybridization(HISH)를 이용한 에드워드 증후군의 산전 진단
우미정 ( Mi Jung Woo ),최진선 ( Jin Sun Choi ),송남희 ( Nam Hee Song ),고희정 ( Hee Jung Ko ),오선경 ( Sun Kyung Oh ),최대우 ( Dea Woo Chun ),박교훈 ( Kyo Hoon Park ),박중신 ( Joong Shin Park ),전종관 ( Jong Kwan Jun ),문신용 ( Sh 서울대학교 인구의학연구소 2008 人口醫學硏究論集 Vol.21 No.-
우미정 ( MI Jung Woo ),최진선 ( Jin Sun Choi ),송남희 ( Nam Hee Song ),고희정 ( Hee Jung Ko ),오선경 ( Sun Kyung Oh ),천대우 ( Dea Woo Chun ),박찬욱 ( Chan Wook Park ),홍준석 ( Joon Seok Hong ),박교훈 ( Kyo Hoon Park ),박중신 ( Jo 서울대학교 인구의학연구소 2010 人口醫學硏究論集 Vol.23 No.-
This study reviewed cytogenetic analysis in amniotic fluid cells and detected chromosomal abnormalities according to patient`s indications, The 511 cases obtained by amniocentesis were performed using traditional cytogenetic methods at the Institute of Reproductive Medicine and Population, Seoul National University between January and December 2009. The cytogenetic results of 511 cases on cultured amniotic fluid samples showed normal chromosomes (94.9%), chromosome heteromorphisms (2.7%), and chromosomal abnormalities (2.4%). Total 12 cases of abnormal fetal karyotypes were identified including 10 cases (2.0%) of numerical aberrations, 1 case of structural aberration, and 1 case of mosaicism. Numerical abnormalities consisted of autosomal aneuploidies with trisomy 18 (1 case) and 21 (8 cases) and sex chromosome abnormality (1 case). One case of structural abnormality showed balanced reciprocal translocation which was inherited from maternal carrier. The rate of indication with chromosome aberrations was most frequently detected in advanced maternal age, followed by abnormal maternal serum marker positive and abnormal ultrasonographic findings. Among fetuses with an abnormal karyotype, the advanced maternal age could be considered as a predictive marker. These data provide a comprehensive review of the prenatal diagnosis and helpful information in genetic counseling for patients with the high-risk pregnancy.
Fluorescence in Situ Hybridization을 이용한 22q11.2 결손의 산전 진단
우미정 ( Mi Jung Woo ),최진선 ( Jin Sun Choi ),송남희 ( Nam Hee Song ),고희정 ( Hee Jung Ko ),오선경 ( Sun Kyung Oh ),천대우 ( Dea Woo Chun ),박찬욱 ( Chan Wook Park ),구승엽 ( Seung Yup Ku ),박교훈 ( Kyo Hoon Park ),박중신 ( Joon 서울대학교 인구의학연구소 2012 人口醫學硏究論集 Vol.25 No.-
A mictodeletion of chromosome 22q 11.2, which is the most common human deletion syndrome, has a wide phenotypic spectrum that involves a congenital heart defect, cleft palate or thymic hypoplasia identified at ultrasound examnination, The cases of 22q 11.2 deletion occur as a de novo event or can be inherited as an autosomal dominant. Fluorescence In situ hybridization (FISH) was performed to detect the 22q 11.2 deletion in 64 amniotic fluid samples referred to the Institute of Reproductive Medicine and Population, Medical Research Center, Seoul National University. The abnormal ultrasonographic finding was the most common reason for referral. The 22ql1.2 microdeletion was detected in 4 cases among 64 cases, all presenting heart anomaly by the ultrasonographic finding. The 22ql1.2 FISH testing is a useful diagnosis method in pregnancies with heart anomaly and may also be helpful in genetic counseling.
우미정 ( Mi Jung Woo ),최진선 ( Jin Sun Choi ),송남희 ( Nam Hee Song ),고회정 ( Hee Jung Ko ),오선경 ( Sun Kyung Oh ),박찬욱 ( Chan Wook Park ),박중신 ( Joong Shin Park ),전종관 ( Jong Kwan Jun ),김석현 ( Seok Hyun Kim ),박교훈 ( 서울대학교 인구의학연구소 2013 人口醫學硏究論集 Vol.26 No.-
In thin study, we reported cytogenetic results and chromosomal abnormality rate according to indications in amniocentesis, chorionic villus sampling (CVS), and fetal blood sampling. We analyzed 500 cases of amniotic fluid cells, CVS, and fetal blood using standard cytogenetic techniques for screening chromosome abnormalities in Institute of Reproductive Medicine and Population, Seoul National University from January to December in 2012. The most frequent indication of amniocytes was abnormal maternal serum maker (36.3%), followed by abnormal ultrasonographic findings (22.8) and advanced maternal age (22.6). Chromosomal abnormalities of amniotic fluid samples were detected in 23 cases (4.9%). Down syndrome (1.5%) was the most common abnormality. In 4 translocation cases, one case of balanced reciprocal translocation and 3 cases of Robertsonian translocation were inherited by parent. Chromosome abnormality of fetal blood was detected in 2 cases of 12 cases contained trisomy 13 and mosaicism. These data provide information about the probable risks and benefits for prenatal counseling of pregnant women with the high risk.