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- 저자 : 박중신 ( Jo) (검색결과 2 건)
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최진선 ( Jin Sun Choi ),우미정 ( MI Jung Woo ),송남희 ( Nam Hee Song ),고희정 ( Hee Jung Ko ),오선경 ( Sun Kyung Oh ),천대우 ( Dae Woo Chun ),박찬욱 ( Chan Wook Park ),구승엽 ( Seung Yup Ku ),박중신 ( Joong Shin Park ),전종관 ( Jo 서울대학교 인구의학연구소 2010 人口醫學硏究論集 Vol.23 No.-
This study reviewed cytogenetic analysis in 568 fetal blood samples by cordocenresis from second- and third-trimester pregnancies to identify associated problems with fetus and to confirm abnormal karyotype of cultured amniotic fluid cells. Chromosome abnormality was detected in 80 cases (14.1%) which contained 30 cases (37.5%) of numerical aberration, 30 cases (37.5%) of mosaicism, and 20 cases (25%) of structural aberration. The most frequent abnormality was sex chromosomal mosaicism (23 cases, 28.8%) followed by autosomal trisomy (27.5%) and numerical aberration of sex chromosome (8.8%). Twenty-two cases (27.5%) were consistent with autosomal trisomy including eleven cases of trisomy 18, eight cases of trisomy 21, and three cases of trisomy 13. Among structural aberrations, translocation (7.5%), maker chromosome (0.5%), and addition (0.5%) were prevalent. One of three cases with unbalanced reciprocal translocation and one of two cases with balanced translocation were inherited from male translocation carriers. In order to obtain definitive results, 44 cases with chromosomal aberration in amniotic fluid cells were investigated and 24 cases (54.5%) of them showed the same abnormality in fetal blood. Three of twenty-one cases previously defined as true mosaicism in amniotic fluid cells revealed a normal karyotype in fetal blood. Interestingly, one of three cases with mosaic trisomy 20 is confirmed in fetal blood, whereas the others showed a normal karyorype in fetal blood. Cytogenetic analysis in fetal blood by cordocentesis is necessary for prenatal genetic diagnosis in pregnancies that indicate high risk for fetal abnormalities or present abnormal karyotypes of cultured amniotic fluid cells.
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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.
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