• Clinical and Experimental Pediatrics
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• 제46권8호
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• pp.831-835
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• 2003

저자들은 특징적인 안면 기형과 발열이 있는 semilobar type의 holoprosencephaly 환아에서 국내에서는 보고된 바 없는 염색체 검사상 21번 염색체 단체성이 동반된 holoprosencephaly 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

• 대한생식의학회:학술대회논문집
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• 대한불임학회 1995년도 추계 학술대회 및 정기총회
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• pp.65-65
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• 1995

• Clinical and Experimental Reproductive Medicine
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• 제12권2호
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• pp.39-57
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• 1985

Presented in this paper the data from a chromosome study of 397 patients referred for suspected chromosmal abnormalities. Karyotypes were obtained using short-term blood culture and direct method. Of these 238 patients had normal chromosome complements; 159 (40.1%) patients had chromosome abnormality. Among all patients with chromosome abnormalities, 82.4% (131/159) had aberrations of chromosome number, the others 17.60/0 (28/159\ had aberrations of chromosome structure. Ten had a chromosome rearrangement; Five of them were reciprocal and five Robertsonian translocations. Four patients with pericentric inversions and one with paracentric inversions and four with isochromosomes were observed. There were four patients with marker chromosome, two patients had a chromosome insertion; and three others. (additional abnormal chromosomes.) Thus the results of the present study indicate the importance of cytogenetic evaluation in clinically abnormal patients.

• Clinical and Experimental Reproductive Medicine
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• 제19권1호
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• pp.95-101
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• 1992

During the years 1983 to 1991, cytogenetic analysis was performed on 19 women with Turner syndrome in order to find out the incidence of symptoms and signs according to the classification of chromosome abnormalities. 1. All of them showed short stature and the mean height in 7 adults was $140.71{\pm}5.26cm$. 2. Among the 19 patients with Turner syndrome, 7 (36.8%) had 45, XO karyotype, 7 (36.8%) had 46, Xi (Xq), and remained 5 (26.3%) had mosaicism. 3. Five patients with mosaicism had 45, X/46, XX (2), 45, X/46, Xi (Xq) (2) and 45, X/47, XXX (1), respectively. 4. Patients with 45, XO and 46, Xi (Xq) had amenorrhea, whereas only 33% (1/3) of patients with mosaicism had amenorrhea. Total incidence of amenorrhea was 84.6% (11/13). 5. Abnormal external genitalia was detected in 63.6% of patients. The incidence of abnormality in patients with mosaicism was lower than that of other groups. 6. OMPC and deafness were detected in 3 of 19 patients. 7. Two cases of cardiovascular abnormalities were found in patients with 45, XO. This study suggests that gnenetic counselling according to the classification of chromosomal abnormalities could be needed in patients with Turner syndrome.

• 한국수의병리학회:학술대회논문집
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• 한국수의병리학회 2002년도 추계학술대회초록집
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• pp.134-134
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• 2002

A stillborn bovine male fetus with abdominal distention, arthrogryposis and atresia ani was presented for diagnostic evaluation. At necropsy, this fetus had a large amount of ascites, urachal obstruction and marked bladder distention. The ventral surface of the bladder had ruptured and attached to the abdominal wall by fibrinous adhesions. There was bilateral hydronephrosis with moderate pelvic dilatation and cortical attenuation. The rectum was filled with meconium but the anus was imperforate. The right forelimb was contracted. The cause(s) of these abnormalities could not be determined; however, we believe that developmental abnormalities during embryogenesis may be the result of chromosomal abnormalities. This report is the first to report congenital urachal obstruction in this species.

• Asian Pacific Journal of Cancer Prevention
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• 제17권6호
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• pp.3001-3006
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• 2016

Background: The cancer progression of oral leukoplakia is an important watchpoint in the follow-up observation of the patients. However, potential malignancies of oral leukoplakia cannot be estimated by histopathologic assessment alone. We evaluated genetic abnormalities at the level of copy number variation (CNV) to investigate the risk for developing cancer in oral leukoplakias. Materials and Methods: The current study used 27 oral leukoplakias with histological evidence of dysplasia. The first group (progressing dysplasia) consisted of 7 oral lesions from patients with later progression to cancer at the same site. The other group (non-progressing dysplasia) consisted of 20 lesions from patients with no occurrence of oral cancer and longitudinal follow up (>7 years). We extracted DNA from Formalin-Fixed Paraffin-Embedded (FFPE) samples and examined chromosomal loci and frequencies of CNVs using Taqman copy number assays. Results: CNV frequently occurred at 3p, 9p, and 13q loci in progressing dysplasia. Our results also indicate that CNV at multiple loci-in contrast to single locus occurrences-is characteristic of progressing dysplasia. Conclusions: This study suggests that genetic abnormalities of the true precancer demonstrate the progression risk which cannot be delineated by current histopathologic diagnosis.

• 한국생물정보학회:학술대회논문집
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• 한국생물정보시스템생물학회 2001년도 제2회 생물정보 워크샵 (DNA Chip Bioinformatics)
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• pp.61-86
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• 2001

All cancers are caused by abnormalities in DNA sequence. Throughout life, the DNA in human cells is exposed to mutagens and suffers mistakes in replication, resulting in progressive, subtle changes in the DNA sequence in each cell. Since the development of conventional and molecular cytogenetic methods to the analysis of chromosomal aberrations in cancers, more than 1,800 recurring chromosomal breakpoints have been identified. These breakpoints and regions of nonrandom copy number changes typically point to the location of genes involved in cancer initiation and progression. With the introduction of molecular cytogenetic methodologies based on fluorescence in situ hybridization (FISH), namely, comparative genomic hybridization (CGH) and multicolor FISH (m-FISH) in carcinomas become susceptible to analysis. Conventional CGH has been widely applied for the detection of genomic imbalances in tumor cells, and used normal metaphase chromosomes as targets for the mapping of copy number changes. However, this limits the mapping of such imbalances to the resolution limit of metaphase chromosomes (usually 10 to 20 Mb). Efforts to increase this resolution have led to the "new"concept of genomic DNA chip (1 to 2 Mb), whereby the chromosomal target is replaced with cloned DNA immobilized on such as glass slides. The resulting resolution then depends on the size of the immobilized DNA fragments. We have completed the first draft of its Korean Genome Project. The project proceeded by end sequencing inserts from a library of 96,768 bacterial artificial chromosomes (BACs) containing genomic DNA fragments from Korean ethnicity. The sequenced BAC ends were then compared to the Human Genome Project′s publicly available sequence database and aligned according to known cancer gene sequences. These BAC clones were biotinylated by nick translation, hybridized to cytogenetic preparations of metaphase cells, and detected with fluorescein-conjugated avidin. Only locations of unique or low-copy Portions of the clone are identified, because high-copy interspersed repetitive sequences in the probe were suppressed by the addition of unlabelled Cotl DNA. Banding patterns were produced using DAPI. By this means, every BAC fragment has been matched to its appropriate chromosomal location. We have placed 86 (156 BAC clones) cytogenetically defined landmarks to help with the characterization of known cancer genes. Microarray techniques would be applied in CGH by replacement of metaphase chromosome to arrayed BAC confirming in oncogene and tumor suppressor gene: and an array BAC clones from the collection is used to perform a genome-wide scan for segmental aneuploidy by array-CGH. Therefore, the genomic DNA chip (arrayed BAC) will be undoubtedly provide accurate diagnosis of deletions, duplication, insertions and rearrangements of genomic material related to various human phenotypes, including neoplasias. And our tumor markers based on genetic abnormalities of cancer would be identified and contribute to the screening of the stage of cancers and/or hereditary diseases

• Journal of Genetic Medicine
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• 제12권2호
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• pp.85-91
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• 2015

Purpose: Noninvasive prenatal test (NIPT) by massively parallel sequencing (MPS) of cell-free fetal DNA in maternal plasma marks a significant advancement in prenatal screening, minimizing the need for invasive testing of fetal chromosomal aneuploidies. Here, we report the initial clinical performance of NIPT in Korean pregnant women. Materials and Methods: MPS-based NIPT was performed on 910 cases; 5 mL blood samples were collected and sequenced in the Shenzhen BGI Genomic Laboratory to identify aneuploidies. The risk of fetal aneuploidy was determined by L-score and t-score, and classified as high or low. The NIPT results were validated by karyotyping for the high-risk cases and neonatal follow-up for low-risk cases. Results: NIPT was mainly requested for two clinical indications: abnormal biochemical serum-screening result (54.3%) and advanced maternal age (31.4%). Among 494 cases with abnormal biochemical serum-screening results, NIPT detected only 9 (1.8%) high-risk cases. Sixteen cases (1.8%) of 910 had a high risk for aneuploidy: 8 for trisomy 21, 2 for trisomy 18, 1 for trisomy 13, and 5 for sex chromosome abnormalities. Amniocentesis was performed for 7 of these cases (43.8%). In the karyotyping and neonatal data, no false positive or negative results were observed in our study. Conclusion: MPS-based NIPT detects fetal chromosomal aneuploidies with high accuracy. Introduction of NIPT as into clinical settings could prevent about 98% of unnecessary invasive diagnostic procedures.

• Clinical and Experimental Reproductive Medicine
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• 제38권3호
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• pp.126-134
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• 2011

Preimplantation genetic diagnosis (PGD) is gradually widely used in prevention of gene diseases and chromosomal abnormalities. Much improvement has been achieved in biopsy technique and molecular diagnosis. Blastocyst biopsy can increase diagnostic accuracy and reduce allele dropout. It is cost-effective and currently plays an important role. Whole genome amplification permits subsequent individual detection of multiple gene loci and screening all 23 pairs of chromosomes. For PGD of chromosomal translocation, fluorescence $in-situ$ hybridization (FISH) is traditionally used, but with technical difficulty. Array comparative genomic hybridization (CGH) can detect translocation and 23 pairs of chromosomes that may replace FISH. Single nucleotide polymorphisms array with haplotyping can further distinguish between normal chromosomes and balanced translocation. PGD may shorten time to conceive and reduce miscarriage for patients with chromosomal translocation. PGD has a potential value for mitochondrial diseases. Preimplantation genetic haplotyping has been applied for unknown mutation sites of single gene disease. Preimplantation genetic screening (PGS) using limited FISH probes in the cleavage-stage embryo did not increase live birth rates for patients with advanced maternal age, unexplained recurrent abortions, and repeated implantation failure. Polar body and blastocyst biopsy may circumvent the problem of mosaicism. PGS using blastocyst biopsy and array CGH is encouraging and merit further studies. Cryopreservation of biopsied blastocysts instead of fresh transfer permits sufficient time for transportation and genetic analysis. Cryopreservation of embryos may avoid ovarian hyperstimulation syndrome and possible suboptimal endometrium.

• Clinical and Experimental Reproductive Medicine
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• 제32권2호
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• pp.113-119
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• 2005

Objective: The purposes of this study were to investigate the types and the incidences of chromosomal abnormalities, and to provide an explanation for the genetic causations of recurrent spontaneous abortions in Korean population. Methods: Cytogenetic studies were carried out in 535 couples with at least two spontaneous first trimester abortions from January 1981 to December 2003. For karyotype analysis, we used modified Moorhead method by Giemsa staining and Giemsa-Trypsin-Giemsa banding Results: The overall incidence of chromosome abnormality was 32 out of 535 cases (5.98%). There were 25 cases (4.67%) of translocation and 7 cases (1.31%) of inversion. In translocation, 5 cases (0.93%) of Robertsonian translocation and 20 cases (3.74%) of reciprocal translocation were observed. In inversion, 6 cases (1.12%) of inversion of chromosome 9 and one case (0.19%) of inversion of chromosome 18 were found. Conclusion: In this study, overall chromosomal abnormality rate in couples with recurrent spontaneous abortions is much higher than that in the general population. So, chromosomal analysis should be offered for the prognostic information in genetic counseling such as prenatal diagnosis in couples with repetitive reproductive failure.