• Journal of Genetic Medicine
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• 제11권2호
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• pp.49-55
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• 2014

Genetic ultrasonography refers to the evaluation of risk of chromosomal abnormalities via various soft sonographic markers. Although the maternal serum test is the primary screening method for chromosomal abnormalities, genetic ultrasonography is also widely used and can help increase detection rates. To date, many soft markers, including choroid plexus cysts, echogenic intracardiac foci, mild ventriculomegaly, nuchal fold thickening, echogenic bowel, mild pyelectasis, short femur and humerus length, and absent or hypoplastic nasal bone, have been reported. An aberrant right subclavian artery was the most novel soft marker introduced. Because these soft markers involve diverse relative risks of chromosomal abnormalities, it is difficult to apply them to clinical practice. To optimize the efficacy of genetic ultrasonography, it is important to understand the precise relative risks of chromosomal abnormalities innumerous soft markers and integrate these risks with each other and the results of maternal serum screening.

• Clinical and Experimental Reproductive Medicine
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• 제22권2호
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• pp.203-210
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• 1995

Many oocytes fail to fertilize and cleave in vitro and many embryos transferred back to uterus fail to implant or maintain implantation. Chromosomal abnormalities in the male and female gametes may contribute to this loss. The higher incidence of meiotic chromosomal abnormalities bas been found in oocytes than in sperm. The wide range of incidence of chromosomal abnormalities in unfertilized oocytes has been reported in human IVF program (26-63%). However, factors affecting chromosomal abnormalities are not well understood. The present study has been conducted to investigate effects of the method for ovarian hyperstimulation, women's age, and the number of oocytes retrieved per patients on the incidence of numerical chromosomal abnormalities. Five hundred eighty four unfertilized metaphase II oocytes were subjected to chromosomal analysis. Included unfertilized oocytes were from 220 patients (mean $age=32.7{\pm}3.0$) and three hundred thirty oocytes were legible for analysis. Two hundred fourty five oocytes out of 330 (73.3%) were normal, while 38 (11.5%) were hyperploidy, 35 (10.6%) were hypoploidy, and 12 (3.6%) were diploidy. Significant difference in chromosomal abnormalities was not found between two patient groups stimulated by follicular stimulating hormone/human menopausal gonadotrophin (FSH/HMG) (25.9%) and gonadotrophin-releasing hormone agonist/follicular stimulating hormone/human menopausal gonadotrophin (GnRHa/FSH/HMG) (28%). There was a tendency of increasing chromosomal abnormalities in unfertilized oocytes from older patients (<30 yrs: 20.3%, 30-34yrs: 26.9%, >34 yrs: 35.3%). The number of oocytes retrieved per patient had no effect the incidence of chromosomal abnormalities (1-5: 31. 4%, 6-10: 29.8%, 11-15: 28.6%, > 15: 16.5%). These results from the present study suggest that the chromosomal abnormalities observed in the unfertilized oocytes has not affected by the stimulation methods, patient's age, and the number of oocytes retrieved per patients.

• Asian-Australasian Journal of Animal Sciences
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• 제9권4호
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• pp.449-454
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• 1996

Cytogenetic effects of malathion and parathion, the organophosphorus pesticides were studied on goat lymphocytes in culture. The mitotic indices (% of blast cells + cells at metaphase) of goat lymphocytes showed corresponding decrease with the increase in dose of pesticides. Malathion had significant effect only at $150{\mu}g/ml$ or higher dosages while, parathion caused antimitotic effects even at the lowest dose ($5{\mu}g/ml$) tested. The clastogenic effects of malathion were significant ($p{\leq}0.05$) at $100{\mu}g/ml$. In higher doses, the effects were highly significant ($p{\leq}0.01$). The frequency of metaphase plates with chromosomal abnormalities were highest (22.0%) at $200{\mu}g/ml$. The incidences of chromosomal abnormalities were significant ($p{\leq}0.05$) in parathion treated series even at $5{\mu}g/ml$ dose level. At $10{\mu}g/ml$ or higher dose levels the difference between treatment groups and controls were more pronounced ($p{\leq}0.01$). Various types of chromosomal abnormalities were encountered in goat lymphocytes treated by malathion and parathion. However, the incidence of gaps, breaks, acentric fragments, dicentric chromosomes were higher than other types of structural and numerical abnormalities.

• 대한의생명과학회지
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• 제17권2호
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• pp.129-134
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• 2011

Mosaicism is the presence of two or more chromosomally distinct cell lines, each seen in two or more cells. Chromosomal mosaicism presents one of the most difficult problems in prenatal cytogenetic diagnosis, requiring the differentiation of true mosaicism from pseudomosaicism. To overcome associated problems we investigated 24 cases (amniotic fluid 13 cases, abortus tissue 3 cases, peripheral blood 8 cases) in which mosaicism has been found in cytogenetic analysis. 5 cases (38.5%) of 13 amniotic fluid cells in which mosaicisms showed single cell pseudomosaicism. Chromosomal true mosaicism is found in about 0.28% (8/2,826) of amniotic fluid cell cultures. The 24 cases involved 12 cases (50%) with sex chromosomal abnormalities, 7 cases (29.2%) with autosomal structural defects, 3 cases (12.5%) with autosomal abnormalities, 2 cases (8.3%) with a supernumerary marker. Mosaicism detected in amniotic fluid may represent the true mosaicism or may pseudomosaicism. If the same chromosome abnormality is seen in more than one cell and in two different cultures, it is considered a true mosaicism, whereas single-cell abnormalities from a single culture are regarded as pseudomosaicism. In this study, we describe a mosaicism in chromosome analysis, its diagnostic problems and clinical significance.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제2권1호
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• pp.66-75
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• 1991

자폐장애의 유전적 요소를 조사하기 위하여 DSM-III-R의 진단기준으로 자폐장애에 부합한 38명의 아동에서 염색체 검사를 실시하였다. 본 연구의 대상은 남아 28명과 여아 10명이었으며, 평균 연령은 $108.8{\pm}28.5개월(70{\sim}156개월)$이었다. 염색체 핵형검사 결과 모든 대상 아동에서 46XX 혹은 46XY로서 염색체 수에는 이상이 없었다. Fragile X는 한 명에서도 발견되지 않았다. Fragile X 이외의 염색체 구조의 이상은 14명(36.8%)에서 발견되었으며, 그 양상은 breakage 11명, gap 2명, breakage와 gap이 공존하는 경우 1명이었다. Denver의 염색체 분류에 의한 이상 염색체 군은 A군 4명, C군 3명, 두 군 이상의 이상은 A군과 B군 동시에 발견된 경우가 1명, A군과 C군 동시 발견이 3명, A군과 E군 동시 발견이 1명, C군과 E군 동시 발견이 1명, A군 B군과 C군 동시 발견이 1명이었다. 염색체 구조에 이상이 있는 집단과 이상이 없는 집단을 DSM-III-R에 의한 자폐장애 증상 항목별로 비교하여 본 바, 모든 증상의 빈도는 양 집단간에 통계적으로 유의한 차이가 없었다.

• Journal of Preventive Medicine and Public Health
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• 제50권6호
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• pp.347-360
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• 2017

Objectives: This meta-analysis aimed to evaluate congenital malformations in infants conceived by assisted reproductive techniques (ART), compared with infants conceived spontaneously. Methods: In this study, available resources searched to find relevant articles included PubMed, ScienceDirect, Scopus, Google Scholar, Cochrane, ProQuest, Iranmedex, Magiran, and Scientific Information Database. After extracting the necessary information from evaluated articles, meta-analysis on the articles' data was performed using Stata version 11.2. Results: In this study, from a total of 339 articles, extracted from the initial investigation, ultimately 30 articles were selected for meta-analysis that assessed the use of ART on the risk of congenital abnormalities and some birth complications on 5 470 181 infants (315 402 cases and 5 154 779 controls). The odds ratio (95% confidence interval [CI]) for low birth weight was 1.89 (95% CI, 1.36 to 2.62), preterm labor 1.79 (95% CI, 1.21 to 2.63), cardiac abnormalities 1.43 (95% CI, 1.27 to 1.62), central nervous system abnormalities 1.36 (95% CI, 1.10 to 1.70), urogenital system abnormalities 1.58 (95% CI, 1.28 to 1.94), musculoskeletal disorders 1.35 (95% CI, 1.12 to 1.64), and chromosomal abnormalities in infants conceived by ART was 1.14 (95% CI, 0.90 to 1.44), which were all statistically significant, except chromosomal abnormalities. Conclusions: The risk of congenital abnormalities and some birth complications were significantly higher in ART than normal conception, while chromosomal abnormalities were not; therefore, the application of ART should be selected individually for patients by detailed assessment to reduce such risks in the population.

• Journal of Genetic Medicine
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• 제8권1호
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• pp.44-52
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• 2011

목적: 자연 유산에 대한 세포유전학적 분석은 유산의 원인을 규명하여 부모에게 정확한 유전상담을 위한 귀중한 정보를 제공한다. 또한 그 분석결과를 통해 염색체 이상의 빈도와 유형을 알 수 있으며 그에 따른 재발 위험도를 산정할 수 있다. 하지만 아직까지 한국인에서는 자연유산에서 관찰되는 염색체 이상에 대해 몇몇의 보고들이 있으나 그 대상군의 수가 적다. 이에 저자들은 자연유산에 의한 수태산물 470예에서 관찰되는 염색체 이상의 발생 빈도와 종류에 대해 보고하고자 한다. 대상 및 방법: 2005년부터 2010년까지 국내 병원이나 개인 산부인과에서 서울의과학연구소에 염색체 분석이 의뢰된 자연유산에 의한 수태산물 470예를 대상으로 염색체 핵형 결과와 함께 유산시 임신 주수와 산모나이에 따른 염색체 이상의 종류와 발생빈도를 분석하였다. 결과: 총 470예의 자연 유산에 의한 수태산물의 염색체 핵형을 분석한 결과 염색체 이상 빈도는 54.3% (255/470)였다. 그 중 수적 이상이 89.3% (228/470)로 대부분을 차지하였는데, 수적 이상 중에는 상염색체의 삼염색체가 67.0%였고, 단일염색체 X가 12.5%, 다배수성은 8.2%, 삼염색체X가 0.8%, 상염색체의 단일염색체가 0.8%였다. 구조적 이상은 10.7% (27/470)으로 균형전좌가 3예, 불균형전좌는 24예이었다. 남녀 성비는 정상핵형과 비정상핵형 모두 0.58과 0.65으로 여아에서 높게 나타났다. 상염색체의 삼염색체는 1번, 3번, 19번 염색체를 제외하고 모두 관찰되었는데, 16번 삼염색체가 19.9%로 가장 많았으며, 22번 염색체가 13.5%, 21번 염색체가 12.3%, 15번 염색체가 9.9%, 13번과 18번 염색체가 각각5.3% 순으로 관찰되었다. 염색체 이상의 빈도는 임신 주수가 낮을수록, 산모나이가 많을수록 높았는데, 산모나이가 많을수록 삼염색체와 수적이상과 구조적 이상이 같이 있는 염색체 이상의 빈도가 높았다. 결론: 본 연구는 최근 6년간의 자연유산에 의한 수태산물 470예에 대해 세포유전학적 결과를 분석하였고, 이는 국내 자연유산 환자에게 적절한 산전유전상담을 위한 기초자료로서 유용할 것으로 생각된다.

• Clinical and Experimental Reproductive Medicine
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• 제26권1호
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• pp.43-54
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• 1999

Klinefelter's syndrome is a very important disease in gynecologic endocrinologic fields, because the patients with this karyotype complain of infertility, azospermia and ambiguous genitalia. Y chromosome is an important chromosome which determine genetic sex and the structure of gonad and genitalia. In this study, to elucidate the cytogenetic characteristics and clinical features of Klinefelter's syndrome and Y chromosomal abnormalities in Korea, we studied 303 cases of Klinefelter's syndrome and 11 cases of Y chromosomal abnormalities which were diagnosed by chromosomal analysis at the Cytogenetic Laboratory, Institute of Reproductive Medicine and Population, Seoul National University for 12 years from January 1984 to December 1996. The results of this study showed as follows: 1. In a total of 9275 cases, there were 303 cases (3.3%) of Klinefelter's syndromes, 11 cases (0.1%) of Y chromosomal abnormalities. 2. In 102 cases of patients showed typical clinical features of Klinefelter's syndrome, 101 cases (99%) of them were diagnosed to Klinefelter's syndrome in karyotyping. 3. In 303 cases of Klinefelter's syndrome, there were 277 cases (91.4%) of 47,XXY complement, 16 cases (5.3%) of mosaicism, 2 cases (0.7%) of 48,XXXY, 5 cases (1.7%) of 48,XXYY and 3 cases (1.0%) of 49,XXXXY. 4. In 303 cases of Klinefelter's syndrome, 284 cases (93.7%) of them were diagnosed after puberty and only 19 cases (6.3%) of them were diagnosed before puberty. 5. In 303 cases of Klinefelter's syndrome, there were 146 cases (48.2%) of patients with infertility-associated chief complaints, 101 cases (33.3%) of patients with typical clinical features of Klinefelter's syndrome, 22 cases (7.3%) of patients with ambiguous genitalia. 6. In patients with Klinefelter's syndrome, 48,XXYY and 49,XXXXY had serious symptoms such as mental retardation, developmental delay, Down syndrome-like features, congenital anomalies, but 48,XXYY and other mosaicisms had infertility-associated symptoms or ambiguous genitalia. 7. The 8 cases of polysomy Y (XYY complement) showed several serious symptoms such as Down syndrome-like features, mental retardation, fragile X syndrome-like feature, congenital anomalies, ambiguous genitalia which could be detected before puberty.

• 대한생식의학회:학술대회논문집
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• 대한불임학회 2004년도 제46차 춘계학술대회
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• pp.27-30
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• 2004

• Journal of Genetic Medicine
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• 제2권2호
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• pp.59-63
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• 1998

Between 1988-1998, cytogenetic analyses were performed for 1,476 couples and 162 women with recurrent abortions. We applied GTG-banding, high resolution-banding and FISH (fluorescent in situ hybridization) techniques in this study. The frequency of balanced translocations was 3.6% (112/3114). Of them, 74 cases (2.38%) were reciprocal translocations and 38 (1.22%) were robertsonian translocations. Chromosome aberrations were more frequent in women (80 cases) than in men (32 cases). No phenotypical abnormalities were found in all carriers who had experienced recurrent spontaneous abortions or experienced giving birth to malformed offsprings. Prenatal cytogenetic analyses were carried out on 40 subsequent pregnancies for carrier couples with balanced translocation. The fetal karyotypes showed that 13 cases (32.5%) were normal, 25 (62.5%) were balanced translocations, and two (6%) were unbalanced translocations. It is believed that the frequency of chromosomal abnormalities in patients with recurrent spontaneous abortion is higher than that of the normal population. Most of the fetal samples showed normal karyotypes or balanced translocations matching that of one of their parents. Although the incidence of chromosomal imbalance in the fetuses was relatively low in prenatal cytogenetic analysis, individuals with balanced translocations are predisposed to giving birth to malformed offsprings with partial trisomy or monosomy. Therefore, we recommend the cytogenetic and the prenatal cytogenetic analysis for those who experiences recurrent abortion as well as in case they become pregnant, to prevent the birth of offsprings with chromosomal abnormalities.