• Proceedings of the KOSOMBE Conference
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• v.1998 no.11
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• pp.66-69
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• 1998

Comparative genomic hybridization (CGH) is an important molecular cytogenetics technique that maps abnormal copy number of specific DNA sequence of the chromosome. CGH is based on quantitative digital image analysis of ratio images from fluorescently labeled chromosomes. In this paper, we would like to introduce how recently developed image analysis algorithms are used for CGH techniques. To average the ratio profile of each chromosome, binarization, skeletonization, and stretching of chromosome images have been studied. Developed algorithms have been implemented in the karyotyping system ChIPS commercially developed at Biomedlab Co. Ltd.

• Journal of Genetic Medicine
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• v.7 no.2
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• pp.156-159
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• 2010

Inversion, one of the balanced rearrangements, usually does not lead to phenotypic abnormalities; all genetic information exists in the proper amount, merely in a different order or in an abnormal location. However, offspring of an inversion carrier is at risk of chromosomal imbalance because an inversion loop can be formed during crossing-over of the paternal and the maternal chromosomes in meiosis. We report a 38-year-old woman with inversion and balanced translocation and her fetus with unusual rearrangement causing chromosomal imbalance. We performed conventional cytogenetic analysis, MLPA, and subtelomeric FISH in the cells of the embryo. The results showed that the distal portion of chromosome 13q was added to the terminal portion of chromosome 9p during crossing-over. Therefore, the final karyotype of the fetus was 46,XY,rec(9)t(9;13)(p22;q32)inv(9)(p12q13)mat, confirmed using molecular-cytogenetic analyzing tools.

• Journal of Genetic Medicine
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• v.4 no.2
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• pp.133-141
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• 2007

Purpose : Cri-du-Chat syndrome (CdCs) is a rare but clinically recongnizable condition with an estimated incidence of 1:50,000 live births. The clinical characteristics of the syndrome include severe psychomotor and mental retardation, microcephaly, hypertelorism, hypotonia, and slow growth. Also the size of the chromosome 5p deletion ranges were known from the region 5p13 to the terminal region. In this study, we report the spectrum of 5p deletion in Korean 20 pts. with CdCs and genotype-phenotype associations in CdCs. Methods : In order to delineate genotype-phenotype correlation, molecular cytogenetic studies including GTG banding and clinical characterization were performed on Korean 20 pts with CdCs including parents. CGH array and Fluorescence in situ hybridization (FISH) analysis were used to confirm a terminal deletion karyotype and map more precisely the location of the deletion breakpoint. Results : Molecular analysis of the spectrum of 5p deletion revealed 9 pts (45%) with a del (5)(p14), 7 pts. (35%) a del (5)(p13), 3 pts. (15%) a del (5)(p15.1) and 1 pt. (5%) a del (5)(p15.2) in 20 pts with CdCs. 4(20%)pts were identified to have additional chromosome abnormalites of deficiency and duplication involving chromosomes of 6, 8, 18, & 22. Parental study identified 3 familial case (2 paternal and 1 maternal origin) showing parents being a balanced translocation carrier. And the comparison study of the deletion break points among these 20 pts. with their phenotype has showed the varying clinical pheno-types in the CdCs critical region. Conclusion : The characterization of 5p deletion including parental study may help to delineate the genotypephenotype correlation in CdCs. Also these molecular cytogenetic analyses will be able to offer better information for accurate genetic diagnosis in CdCs and further make possible useful genetic counseling in pts. and family.

• Asian Pacific Journal of Cancer Prevention
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• v.13 no.11
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• pp.5391-5397
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• 2012

Background: Neuroblastoma (NB), like most human cancers, is characterized by genomic instability, manifested at the chromosomal level as allelic gain, loss or rearrangement. Genetics methods, as well as conventional and molecular cytogenetics may provide valuable clues for the identification of target loci and successful search for major genes in neuroblastoma. We aimed to investigate AURKA and MYCN gene rearrangements and the chromosomal aberrations (CAs) to determine the prognosis of neuroblastoma. Methods: We performed cytogenetic analysis by G-banding in 25 cases [11 girls (44%) and 14 boys (66%)] and in 25 controls. Fluorescence in situ hybridization (FISH) with AURKA and MYCN gene probes was also used on interphase nuclei to screen for alterations. Results: Some 18.4% of patient cells exhibited CAs., with a significant difference between patient and control groups in the frequencies (P<0.0001). Some 72% of the cells had structural aberrations, and only 28% had numerical chnages in patients. Structural aberrations consisted of deletions, translocations, breaks and fragility in various chromosomes, 84% and 52% of the patients having deletions and translocations, respectively. Among these expressed CAs, there was a higher frequency at 1q21, 1q32, 2q21, 2q31, 2p24, 4q31, 9q11, 9q22, 13q14, 14q11.2, 14q24, and 15q22 in patients. 32% of the patients had chromosome breaks, most frequently in chromosomes 1, 2, 3, 4, 5, 8, 9, 11, 12, 19 and X. The number of cells with breaks and the genomic damage frequencies were higher in patients (p<0.001). Aneuploidies in chromosomes X, 22, 3, 17 and 18 were most frequently observed. Numerical chromosome abnormalities were distinctive in 10.7% of sex chromosomes. Fragile sites were observed in 16% of our patients. Conclusion: Our data confirmed that there is a close correlation between amplification of the two genes, amplification of MYCN possibly contributing significantly to the oncogenic properties of AURKA. The high frequencies of chromosomal aberrations and amplifications of AURKA and MYCN genes indicate prognostic value in children with neuroblastomas and may point to contributing factors in their development.

• Tuberculosis and Respiratory Diseases
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• v.45 no.5
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• pp.1073-1081
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• 1998

Primary pulmonary lymphoma (PPL) is an uncommon tumor, which constitutes 3-4% of all extranodal lymphomas and 0.3-0.5 % of all primary pulmonary malignant tumors. Low-grade B-cell lymphomas of bronchus-associated lymphoid tissue (BALT) accounted for the majority of PPL. This BALT lymphomas are frequently asymptomatic and have an excellent prognosis and an indolent clinical course by contrast with T-cell type. Therefore, determination of the B- or T-immunophenotype of the tumor cells is known to be very important from a clinical aspect. Recent advances in immunohistochemical techniques, cytogenetics, and molecular biology have allowed better definition of type, maturation, and clonality of lymphoma cells and have made it possible to better understand the PPL. We experienced an asymptomatic 43-year-old man who was evaluated for infiltrates on both sides discovered incidentallly after a routine chest roentgenogram. He was eventually diagnosed as low-grade B-cell lymphoma of BALT by immunohistochemical staining from specimens obtained by open lung biopsy. He was treated with combination chemotherapy. At follow up 12 mons following initial diagnosis, he remains in stable. We report this case, who showed a relatively favorable prognosis and indolent clinical course compatible with low-grade B-cell lymphoma.

• Korean Journal of Clinical Laboratory Science
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• v.51 no.1
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• pp.1-14
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• 2019

The names of medical technologist in Korea, Japan, and the United State of America vary depending on the medical system, educational system, and work areas. Conventionally, jobs equal or similar to medical technologist (commonly known as clinical laboratory technologist, medical laboratory technologist, clinical laboratory scientist, and medical laboratory scientist), histotechnologist, cytotechnologist, and genetic technologist. Jobs, such as extracorporeal technologist, medical electrophysiology technologist, and medical sonographer, allow other allied health professionals including medical technologists, to obtain their qualification. The work areas of medical technologists are classified into clinical pathologic technology, pathologic technology, clinical genetics technology, nuclear medicine in vitro technology, and clinical physiologic technology. New titles of Korean specialized medical technologists refer to certification systems, such as CLMJ, CMAJ, ASCP, IAC, ABRET, and ARMDS. Currently, there are eight types of specialized medical technologists under the cooperation of specialized academic societies. They are hematology, transfusionology, chemistry, immunology, microbiology, histology, cytology, nuclear medicine. It can be further divided into 20 categories according to the work areas such as mass spectrometry, infection control, Pathologists' Assistant, flow cytometry, HLA, cytogenetics, molecular genetics, cardiopulmonary physiology, neurophysiology (EEG/EMG/PSG/etc.), cardiac sonography, neurosonography (TCD/carotid), and medical device quality manager.