• Korean Journal of Ichthyology
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• v.18 no.1
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• pp.20-26
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• 2006

Bagrid catfish hybrid between Korean bullhead (Pseudobagrus fulvidraco) and Ussurian bullhead (Leiocassis ussuriensis) was produced by artificial fertilization. Modal chromosome numbers of Korean bullhead, Ussurian bullhead and their hybrid were the same as 2n=52. The karyotypes were 22 metacentric (M), 22 submetacentacentric (SM), and 8 acrocentric (A) chromosomes for Korean bullhead, 22M+14SM+16A for Ussurian bullhead and 22M+18SM+12A for their hybrid. The hybrid bullhead karyotype consisted of each haploid set of parental species chromosomes. Erythrocytic sizes and DNA contents of hybrids were intermediate between two parental species.

• Korean Journal of Ichthyology
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• v.8 no.2
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• pp.10-15
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• 1996

The chromosome numbers of bagrid catfish, Pseudobagrus fulvidraco was 52, nine pairs (No. 1 to 9) were metacentrics with the range of relative length 2.89~6.22 and arm ratio 1.09~1.58 ; thirteen pairs (No. 10 to 22) were submetacentrics with the range of relative length 2.88~5.88 and arm ratio 1.80~3.65 ; and all other pairs (No. 23 to 26) were acrocentrics with the range of relative length 2.63~3.30 and arm ratio 9.01~10.67, and fundamental number was 104. Heteromorphic sex chromosomes were not found. There was not exist significant difference in resultant erythrocyte measurements and parameters between female and male (p<0.05). The mean sizes of cell and nucleus, were $11.03{\times}9.67{\mu}m$ and $4.18{\times}3.66{\mu}m$ respectively. The number of erythrocytes of both females and males were $6{\sim}7{\times}10^5/ml$. Gill tissues from diploid individuals had cells with one or two nucleoli.

• BLOOD RESEARCH
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• v.53 no.4
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• pp.288-293
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• 2018

Background Although allogeneic hematopoietic cell transplantation (HCT) is the only curative treatment option for myelodysplastic syndrome (MDS), a substantial number of patients experience relapse. We reviewed the clinical outcomes of patients with MDS who relapsed after allogeneic HCT. Methods Thirty patients who experienced relapse or progression after allogeneic HCT for MDS between July 2000 and May 2016 were included in this retrospective analysis. Results The median time from HCT to relapse was 6.6 (range, 0.9-136.3) months. Donor lymphocyte infusions (DLIs) were administered to four patients: one achieved complete remission (CR) and survived disease free, while three did not respond to DLI and died. Hypomethylating agents were administered to seven patients: one who had stable disease continuously received decitabine, while six died without response to treatment. Six patients received AML-like intensive chemotherapy, and three achieved CR: two underwent second HCT and one DLI. One patient receiving second HCT survived without disease, but the other two relapsed and died. Three, four, and eight patients who did not respond to intensive chemotherapy, low-dose cytarabine, and best supportive care, respectively, died. One patient who underwent second HCT following cytogenetic relapse survived disease free. Median overall survival after relapse was 4.4 months, and relapse within 6 months after HCT was associated with shorter survival. Conclusion Outcomes of MDS patients relapsing after allogeneic HCT were disappointing. Some patients could be saved using DLI or second HCT.

• The Journal of the Korea Contents Association
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• v.22 no.2
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• pp.762-769
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• 2022

Genetic testing in prenatal diagnosis is a precious tool providing valuable information in clinical management and parental decision-making. For the last year, cytogenetic testing methods, such as G-banding karyotype analysis, fluorescent in situ hybridization, chromosomal microarray, and gene panels have evolved to become part of routine laboratory testing. However, the limitations of each of these methods demonstrate the need for a revolutionary technology that can alleviate the need for multiple technologies. The recent introduction of new genomic technologies based on next-generation sequencing has changed the current practice of prenatal testing. The promise of these innovations lies in the fast and cost-effective generation of genome-scale sequence data with exquisite resolution and accuracy for prenatal diagnosis. Here, we review the current state of sequencing-based pediatric diagnostics, associated challenges, as well as future prospects.

• 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.

• Journal of Genetic Medicine
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• v.5 no.1
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• pp.47-54
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• 2008

Purpose : Fluorescence in situ hybridization (FISH) on uncultured amniotic fluid cells offers the opportunity for rapid screening of aneuploidies and has become an integral part of the current practice in many clinical cytogenetics laboratories. Here, we retrospectively analyzed the results of interphase FISH in 943 amniotic fluid samples and assessed the efficiency of FISH for rapid detection of aneuploidies. Methods : Interphase FISH for chromosome 13, 18, and 21 was performed in 943 consecutive amniotic fluid samples for rapid diagnosis of aneuploidies referred from 2004 to 2006. Karyotypes from standard cytogenetic analysis were compared to the FISH results. Results : A total of 45 chromosomal rearrangements (4.8%) were found after conventional cytogenetic analysis of the 943 amniotic fluid. After exclusion of known familiar chromosomal rearrangements and inversions (2.1%, 20/943), 2.7% (25/943) were found to have chromosomal abnormalities. Of this group, 0.7% (6/943) were chromosomal abnormalities not detectable by FISH and 2.0% (19/943) were numerical abnormalities detectable by FISH. All 14 cases of Down syndrome (Classic type, 13 cases; Robertsonian type, 1 case) and 5 cases of trisomy 18 were diagnosed and detected by FISH and there were no false-positive or -negative results (specificity and sensitivity=100%). Conclusion : The present study demonstrates that FISH can provide a rapid and sensitive clinical method for prenatal identification of chromosome aneuploidies. However, careful genetic counseling is essential to explain the limitations of FISH, including the inability to detect all chromosomal abnormalities and the possibilities of uninformative or false-negative results in some cases.

• Clinical and Experimental Pediatrics
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• v.45 no.9
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• pp.1126-1133
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• 2002

Purpose : Prader-Willi syndrome(PWS) is a complex disorder affecting multisystems with characteristic clinical features. Its genetic basis is an expression defect in the paternally derived chromosome 15q11-q13. We analyzed the clinical features and genetic basis of PWS patients for early detection and treatment. Methods : We retrospectively studied 24 patients with PWS in Department of Pediatrics, Samsung Medical Center, from September 1997 to September 2001. We performed cytogenetic and molecular genetic techniques using high resolution GTG banding techniques, fluorescent in situ hybridization and methylation-specific PCR for CpG island of SNRPN gene region. Results : The average birth weight of PWS patients was $2.67{\pm}0.47kg$ and median age at diagnosis was 1.3 years. The average height and weight of PWS patients under one year at diagnostic time were located in a 3-10 percentile relatively, and a rapid weight gain was seen between two and six years. Feeding problems in infancy and neonatal hypotonia were the two most consistently positive major criteria in over 95% of the patients. In 18 of the 24 cases(75%), deletion of chromosome 15q11-q13 was demonstrated and one case among 18 had an unbalanced 14;15 translocation. In four cases without any cytogenetic abnormality, it may be considered as maternal uniparental disomy and the rest showed another findings. Conclusion : We suggest diagnostic testing for PWS in all infants/neonates with unexplained feeding problems and hypotonia. It is necessary for clinically suspicious patients to undergo an early genetic test. As the genetic basis of PWS was heterogenous and complex, further study is required.

• FLOWER RESEARCH JOURNAL
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• v.26 no.4
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• pp.195-201
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• 2018

The plant morphological and chromosome characteristics of 'Bonanza', 'Coral Candy' and 'Purple Crystal', a formolongi-Asiatic (FA) interspecific hybrid species bred at the National Institute of Horticultural Science, Rural Development Administration (RDA), were investigated in this study. The flowering time of these species were found to have some variation. 'Bonanza' flowers in the middle to late June (medium-late maturing cultivar), 'Coral Candy' in the mid of June (medium maturing cultivar), and 'Purple Crystal' was observed to be in early June (early maturing cultivar). The flowering direction of all three cultivars are upward facing flowers and having a weak fragrance. The height of the plants was recorded in the range between 101.0 cm ('Purple Crystal') to 142.3 cm ('Bonanza'), thus they are able to develop cut flowers with excellent stem elongation. Flower diameters of 'Bonanza' (17.1 cm) and 'Coral Candy' (16.9 cm) were classified to be large sized flowers. On the other hand, 'Purple Crystal' had a narrow flower diameter (12.3 cm) with an outer petal width of more than 4.0 cm. Leaf length was observed for 'Bonanza' (15.7 cm), 'Coral Candy' (19.7 cm), and 'Purple Crystal' (11.1 cm). Chromosome analysis was done using FISH technique. Results revealed that all three cultivars were observed as triploids (2n=3x=36). FISH analysis also showed 5S/45S rDNA of 'Bonanza', 'Coral Candy' and 'Purple Crystal' as 4/11 loci, 4/12 loci, and 4/11 loci, respectively. The results of the FISH analysis are useful as markers to distinguish cultivars, since the patterns of rDNA observed on the remaining chromosomes are significantly different except FISH patterns of chromosome #3.

• Korean Journal of Plant Taxonomy
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• v.39 no.3
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• pp.193-198
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• 2009

Chromosome analysis using karyotyping and bicolor FISH were carried out for two Maackia species (M. fauriei and M. amurensis) found in Korea. The somatic metaphase chromosome number was 2n = 2x = 18 in both, and the size of these chromosomes ranged from 3.58 to $5.82{\mu}m$. The chromosome complements consisted of two pairs of metacentric (chromosomes 1 and 7), four pairs of submetacentrics (chromosomes 4, 6, 8 and 9) and three pairs of subtelocentrics (chromosomes 2, 3 and 5) in M. fauriei but, chromosomes 4 (subtelocentric) and 7 (submetacentric) of M. amurensis have different morphology. Using bicolor FISH, a pair of 45S rDNA loci were observed for both M. fauriei and M. amurensis, but the number and site of the 5S rDNA signal were different in the two species. M. fauriei has two pairs of 5S signals on chromosomes 7 and 8 but, M. amurensis has four paris on chromosomes 3, 4, 7 and 7. Hence, the 5S rDNA is a useful FISH for Maackia species.

• Korean Journal of Plant Resources
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• v.20 no.5
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• pp.446-450
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• 2007

Tiarella polyphylla D. Don(Saxifragaceae) is a perennial herb and distributed in China, Japan, Taiwan and Korea. Especially, it only grows in Ulleung island of Korea. It has been using for asthma, bruise and audition troubles with main components of some Triterpenoids and seven oleanolic Saponins. There is only known its chromosomal number rarely and cytogenetic study was not done. From this study, karyotype analysis and chromosomal localization of 5S and 45S rDNAs using bicolor-FISH(fluorescence in situ hybridization) were carried out. The somatic metaphase chromosome number was 2n=2x=14 and the size of chromosomes ranged $1.66{\sim}3.50{\mu}m$. The chromosome complement consisted of four pairs of submetacentrics(chromosomes 1, 2, 3 and 6), two pairs of subtelocentrics(chromosomes 5 and 7) and one pair of telocentrics(chromosome 4). We also observed NOR(nucleolus organizer region) on the chromosome 4. In bicolor-FISH, one pair of 55 and 45S rDNA sites was detected on the centromeric region of chromosome 3 and short arm of chromosome 4, respectively. Bicolor FISH was very useful tool for the localization and identification of rDNAs on the chromosomes in Tiarella polyphylla.