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황시목 ( Si Mok Hwang ),권경훈 ( Kyoung Hun Kwon ) 서울대학교 인구의학연구소 2014 人口醫學硏究論集 Vol.27 No.-
Noninvasive prenatal testing (NIPT) for aneuploidy using cell-free fetal DNA in maternal plasma is revolutionizing prenatal screening and diagnosis. Current NIPT approaches involve whole-genome sequencing, targeted sequencing and assessment of single nucleotide polymorphism (SNP) differences between mother and fetus. Clinical trials have demonstrated the efficacy of NIPT for Down and Edwards syndromes, and possibly Patau syndrome in high-risk women. Established screening, fetal ultrasound and invasive procedures with microarray testing allow the detection of a broad range of additional abnormalities not yet detectable by NIPT. NIPT approaches that take advantage of SNP information potentially allow the identification of parent of origin for imbalances, triploidy, disomy and consanguinity, and separate evaluation of dizygotic twins. A patient with a positive test result should be referred to genetic counseling and offered invasive prenatal diagnosis for confirmation of test results.
황시목 ( Si Mok Hwang ),권경훈 ( Kyoung Hun Kwon ) 서울대학교 인구의학연구소 2013 人口醫學硏究論集 Vol.26 No.-
The prognosis of malformation is dictated mainly by proper treatment followed by correct diagnosis at an early age. Congenital malformations are single or multiple defects of the morphogenesis of organs or body districts identifiable at birth or during the intrauterine life. Both genetic and environmental factors, as well as their combination in a multifactorial contest, may induce defects. In practice, etiological consideration and classification of anomalies are critical for diagnosis. Congenital malformation is observed in about 2-3% of newborns and is a leading cause of infant mortality. Fetal malformations can be classified into structural and chromosomal abnormalities. Improvements in prenatal diagnosis have allowed identification of malformations in fetuses during the first and second trimesters of pregnancy. In prenatal diagnosis, both screening and diagnostic procedures are included. Genetic counseling aids this process by helping patients of family members understand and the nature of the malformation and risk assessment.
황시목 ( Si Mok Hwang ),권경훈 ( Kyoung Hun Kwon ),오선경 ( Sun Kyung Oh ) 서울대학교 인구의학연구소 2012 人口醫學硏究論集 Vol.25 No.-
This study was performed to analyze the indications and to evaluate the recent ftequency of karyotypes in different sex chromosome abnormalities. We investigated 26 cases(amniotic fluid 8 cases, peripheral blood 12 cases, abortus tissue 5 cases, chorionic villus sampling 1 case) in which sex chromosome abnormalities has been found in cytogenetic analysis. The frequencies of different sex chromosome abnormalities were Turner syndrome 61.6%(16/26), Klinefelter syndrome 30.8%(8/26), XYY syndrome 3.8% and XX male 3.8%. We have to pay careful attention in diagnoses of Turner syndrome because of the high proportion of mosaicism. In this study, we will be provided information in sex chromosome abnormalities analysis, its diagnostic problems and make possible genetic counseling.
황시목 ( Si Mok Hwang ),권경훈 ( Kyoung Hyun Kwon ),오선경 ( Sun Kyung Oh ) 서울대학교 인구의학연구소 2010 人口醫學硏究論集 Vol.23 No.-
Chromosomal aberration of the parents can lead to recurrent miscarriage and fetal chromosomal abnormalities. We have evaluated the outcomes of chromosomal analyses performed on the parents with recurrent spontaneous abortions. A cytogenetic analysis of 156 peripheral blood was performed at the GenDix, Inc. from January, 2008 to December, 2009. The average maternal age was 35.1±4.5 and husband average age was 37.9±4.1. The frequency of chromosome abnormalities in parents was 12.8 percent. Among the chromosomal abnormalities (20 cases), translocation was 30 percent, inversion was 25 percent and mosaicism was 20 percent. Cytogenetic analysis of parents with recurrent spontaneous abortions is imporrant for diagnosis and genetic counseling for patients with spontaneous abortion.
황시목(Si-Mok Hwang),권경훈(Kyung-Hun Kwon),윤경아(Kyung-Ah Yoon),오선경(Sun-Kyung Oh) 대한의학유전학회 2009 대한의학유전학회지 Vol.6 No.1
목적: 자연 유산의 가장 흔한 원인은 수태산물의 염색체 이상으로 알려져 왔다. 따라서 환자들의 상담 및 치료에 유용한 정보를 얻기 위해 염색체 이상의 빈도와 유형을 조사하였다. 대상 및 방법: 2006년 1월부터 2007년 12월까지 수탁된 75례의 자연유산 수태산물에서 세포유전학적 분석을 수행하였다. 결과: 수태산물의 염색체 이상 빈도는 32.0% (24/75례)였다. 염색체 이상들 중 삼염색체는 62.5% (15/24례)였고, 대부분의 삼염색체로는 21번 염색체의 삼염색체가 26.6% (4/15례), 다음으로 흔한 이상으로는 22번 삼염색체가 3례, 20번 삼염색체가 2례였다. 비정상 핵형의 모성 나이의 평균은 34.3±3.3세였다. 결론: 유산 수태산물의 세포유전학적 분석은 자연 유산 환자들을 위한 진단과 유전상담에 중요하다고 할 수 있다. Purpose: Chromosomal abnormalities of abortuses have been used to investigate common etiologies of spontaneous abortion, but the frequencies and types of spontaneous abortions have demonstrated considerable variation among different countries and races. Materials and Methods: A cytogenetic analysis of 75 abortuses was performed at GenDix, Inc. from January 2006 to December 2007. Results: The frequency of chromosome abnormalities in abortuses was 32.0% (24/75 cases). Among the chromosomal abnormalities, trisomy was present in 62.5% (15/24 cases) of cases and the most frequent trisomy was trisomy 21 with an occurrence rate of 26.6% (4/15 cases). The following was trisomy 22 (3/15 cases) and trisomy 20 (2/15 cases). The average maternal age for abnormal karyotypes was 34.3±3.3. Conclusion: Cytogenetic analysis of abortus is important for diagnosis and genetic counseling of patients with spontaneous abortion.
황시목 ( Si Mok Hwang ),권경훈 ( Kyoung Hun Kwon ),오선경 ( Sun Kyung Oh ) 서울대학교 인구의학연구소 2011 人口醫學硏究論集 Vol.24 No.-
Invasive prenatal diagnosis is the most commonly used method for detection of chromosomal aneuploidy or other generic disorders. We performed this study to analyze the indications, distributions of maternal age and cytogenetic results of prenatal cytogenetic examinations, and to evaluate the usefulness of prenatal diagnosis. A cytogenetic analysis of 712 cases (698 amniotic fluid samples, 14 chorionic villi samples) was performed at the GenDix, Inc. from January to December, 2010. The overall rate of chromosomal abnormalities was 7.6% (54 out of 712 cases). The average maternal age of coral subjects was 35.94.2 years, and the most common age group was from 35 to 39 (47.9%). The most frequent indication for prenatal cytogenetic diagnosis was advanced maternal age (>35yr) (42.1%) and positive maternal serum screening (41.0%). Among the 54 cases of chromosomal abnormalities, it contains 28 cases (51.9%) of numerical abnormalities and 26 cases (48.1%) of structural abnormalities. The most frequent structural aberrations were inversion with 69.2% (18 our of 26 cases). Advanced maternal age and positive maternal serum screening must be important screening methods for prenatal diagnosis which is considered to the most effective diagnostic procedure for prenatal cytogenetic studies. Cytogenetic analysis is efficacious method for detection of chromosomal aberration and genetic counseling for parents.
황시목 ( Si Mok Hwang ),권경훈 ( Kyoung Hun Kwon ) 서울대학교 인구의학연구소 2015 人口醫學硏究論集 Vol.28 No.-
Chromosome disorders are a major category of genetic disease. The chromosomal anomalies typically arise from alterations in the DNA containing chromosomal regions and can be reliably detected by karyotype analysis. They account for a large proportion of all reproductive wastage, congenital malformation, and mental retardation and play an important role in the pathogenesis of malignancy. Specific chromosome abnormalities are responsible for more than 100 identifiable syndromes that are collectively more common than all the mendelian single-gene disorders together. Cytogenetic disorders are present in nearly 1 percent of live births, in abour 2 percents of pregnancies in women older than 35 years who undergo prenatal diagnosis, and in fully half of all spontaneous first-trimester abortions. Abnormalities of chromosomes may be either numerical or structural and may involve on or more aurosomes, sex chromosomes, or both simultaneously. The clinical and social impact of chromosome abnormalities is enormous.
오현숙 ( Hyun Sook Oh ),황시목 ( Si Mok Hwang ),권경훈 ( Kyung Hun Kwon ) 대한임상검사과학회 2008 대한임상검사과학회지(KJCLS) Vol.40 No.2
Chromosomal abnormalities of abortus have also been used to investigate the most common etiology of spontaneous abortion, but the frequency and the types of spontaneous abortions have also demonstrated considerable variation among in different countries and races. A cytogenetic analysis of 75 abortuses was performed at the GenDix, Inc. from January, 2006 to December, 2007. The frequency of chromosome abnormalities in abortus was 32.0% (24/75 cases). Among the chromosomal abnormalities, trisomy was 62.5% (15/24 cases) and the most frequent trisomy was trisomy 21 with 26.6% (4/15 cases). The average maternal age of normal and abnormal karyotypes was 34.1±3.3 and 34.3±3.3. Cytogenetic analysis of abortus is important for diagnosis and genetic counseling for parents with spontaneous abortion.