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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.
미배양 양수 세포에서 Fluorescence in Situ Hybridization을 이용한 trisomy 21의 산전 진단
우미정 ( Mi Jung Woo ),최진선 ( Jin Sun Choi ),송남희 ( Nam Hee Song ),고희정 ( Hee Jung Ko ),오선경 ( Sun Kyung Oh ),박찬욱 ( Chan Wook Park ),박교훈 ( Kyo Hoon Park ),박중신 ( Joong Shin Park ),전종관 ( Jong Kwan Jun ),김석현 ( 서울대학교 인구의학연구소 2011 人口醫學硏究論集 Vol.24 No.-
Fluorescence in situ hybridization (FISH) in uncultured amniotic fluid samples is a useful tool for rapid prenatal diagnosis in pregnancy with high risk for chromosomal aneuploidy. FISH using specific probes for chromosome 21 was performed in 39 amniotic fluid samples referred to the Institute of Reproductive Medicine and Population, Seoul National University. The results of FISH analysis were compared to the karyotype using conventional cytogenetic analysis. The most frequent indication performed FISH analysis was the abnormal ultrasonographic findings (61.5%). Trisomy 21 was identified in two our of 39 uncultured amniotic fluid samples by FISH. Conventional cytogenetic results revealed four chromosomal abnormalities which were not detectable by targeted FISH of chromosome 21 such as trisomy 13 and 18, inversion 5 and balanced reciprocal translocation. Interphase FISH analysis would be effective in conjunction with the conventional cytogenetic analysis.