• Clinical and Experimental Pediatrics
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• v.59 no.sup1
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• pp.92-95
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• 2016

Neuroblastomas are sometimes associated with abnormal constitutional karyotypes, but the XYY karyotype has been rarely described in neuroblastomas. Here, we report a case of an esthesioneuroblastoma in a boy with a 47, XYY karyotype. A 6-year-old boy was admitted to our hospital because of nasal obstruction and palpable cervical lymph node, which he first noticed several days previously. A polypoid mass in the right nasal cavity was detected through sinuscopy. Biopsy of the right nasal polyp was performed. Based on the result, the patient was diagnosed with a high-grade esthesioneuroblastoma. Nuclear imaging revealed increased uptake in both the right posterior nasal cavity and the right cervical IB-II space, suggesting metastatic lymph nodes. Cytogenetic analysis revealed a 47, XYY karyotype. Twelve courses of concurrent chemotherapy were administered. Three years after the completion of chemotherapy, the patient had had no disease recurrence. He manifested behavioral violence and temper tantrums, so we started methylphenidate for correction of the behavior.

• Archives of Plastic Surgery
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• v.32 no.1
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• pp.110-116
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• 2005

Male pseudohermaphroditism is individuals with Y chromosome whose external appearances fail to develop as expected as a normal male. Cytogenetic form of male pseudohermaphroditism was 46XY but external genital forms were variable. We reviewed data from 7 patients with male pseudohermaphroditism operated in Dong-A University Hospital from January 1996 to August 2002. They all had severe form of hypospadias (pseudovaginal perineoscrotal type). Only 1 of 7 cases was operated urethroplasty by one stage method, and all others by two stage method. Patients with mild chordee were operated by one stage method and patients with severe chordee were operated by two stage method. Complete chordee release was done by Z-plasty or FTSG on the first stage and posterior urethroplasty was done at level of mid-dorsum of shaft at the same time. Anterior urethroplasty was done completely on the second stage. Results were good from the viewpoint of shape and urination. Urethral fistula occurred in two cases, but other complications (infection, urethral stricture, etc.) didn't occur. In conclusion, two stage method was compatible to correct hypospadias in male pseudohermaphroditism, because hypospadias in male pseudohermaphroditism is in severe form.

• Korean Journal of Medicinal Crop Science
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• v.10 no.2
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• pp.144-146
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• 2002

Cytogenetic analysis of Anemarrhena ashodeloides BUNGE, which is one of medicinal plants belonging to Haemodoraceae was carried out using Feulgen staining. The somatic metaphase chromosome number was identified to 2n=22 (x=11) and the size of chromosomes ranges from $1.27-3.80\;{\mu}m$. Three pairs of chromosomes were relatively long in total length and the others were short. The karyotype was bimodal in chromosome length and arm ratios. The chromosome complement comprise eight pairs of metacentric (chromosome 2, 3, 6, 7, 8, 9, 10, and 11), two pairs of submetacentric (chromosome 4 and 5), and one pair of subtelocentric (chromosome 1).

• Journal of Genetic Medicine
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• v.15 no.1
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• pp.38-42
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• 2018

WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) syndrome is a rare contiguous gene deletion syndrome caused by deleting genes including WT1 and PAX6 genes in 11p13 region, which is characterized by Wilms tumor, aniridia, genitourinary abnormalities, and intellectual disability. We report the clinical and cytogenetic characteristics of one Korean patient with WAGR syndrome. The patient shows bilateral sporadic aniridia and genital anomalies at 2 months of age. A heterozygous 14.5 Mb interstitial deletion of 11p14.3p12 region was detected by array comparative genomic hybridization. At 2 years and 10 months of age, Wilms tumor is found through regularly abdominal ultrasonography and treated by chemotherapy, radiation therapy and surgery.

• Clinical and Experimental Pediatrics
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• v.53 no.3
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• pp.273-285
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• 2010

Completion of the human genome project has allowed a deeper understanding of molecular pathophysiology and has provided invaluable genomic information for the diagnosis of genetic disorders. Advent of new technologies has lead to an explosion in genetic testing. However, this overwhelming stream of genetic information often misleads physicians and patients into a misguided faith in the power of genetic testing. Moreover, genetic testing raises a number of ethical, legal, and social issues. Diagnostic genetic tests can be divided into three primary but overlapping categories: cytogenetic studies (including routine karyotyping, high-resolution karyotyping, and fluorescent in situ hybridization studies), biochemical tests, and DNA-based diagnostic tests. DNA-based testing has grown rapidly over the past decade and includes preandpostnatal testing for the diagnosis of genetic diseases, testing for carriers of genetic diseases, genetic testing for susceptibility to common non-genetic diseases, and screening for common genetic diseases in a particular population. Theoretically, once a gene's structure, function, and association with a disease are well established, the clinical application of genetic testing should be feasible. However, for routine applications in a clinical setting, such tests must satisfy a number of criteria. These criteria include an acceptable degree of clinical and analytical validity, support of a quality assurance program, possibility of modifying the course of the diagnosed disease with treatment, inclusion of pre-and postnatal genetic counseling, and determination of whether the proposed test satisfies cost-benefit criteria and should replace or complement traditional tests. In the near future, the application of genetic testing to common diseases is expected to expand and will likely be extended to include individual pharmacogenetic assessments.

• Proceedings of the Korean Society of Life Science Conference
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• 2003.10a
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• pp.14-27
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• 2003

The genomes of Arabidopsis and rice have been fully sequenced. Genomic sequencing provides global information about genome structure and organization. A comprehensive research account of our recent studies conducted on genome painting, comparative genomics and genome fusion is provided in order to project the prospects of plant cytogenetic research in post-genomics era. Genome analysis by GISH using genome painting is demonstrated as an excellent means suitable for visualization of a whole genome, since total genomic DNA representing the overall molecular composition of the genome is used as a probe. FISH on extended DNA fibers has been developed for high-resolution FISH and has contributed to determining the copy number and order of genes. We have also mapped a number of genes involving starch synthesis on wheat chromosomes by FISH and compared the position of these genes on linkage map of rice. Macro synteny between wheat and rice can be observed by comparing the location of these genes in spite of the fact that the size of DNA per chromosome differs by 20 fold in two. Moreover, to approach our goal towards making bread and udon noodles from rice flour in future by incorporating bread making and the noodle qualifies in rice, we have been successful in introducing large genomic DNA fragments containing agronomically important genes of wheat into a rice by successive introduction of large insert BAC clones, there by expanding genetic variability in rice. We call this method genome fusion.

• Journal of Environmental Health Sciences
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• v.23 no.4
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• pp.26-32
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• 1997

To evaluate the cytogenetic toxicity, of cadmium and the reducing effect of selenium or zinc on cadmium toxicity, the induction of SCEs in cultured human lymphocytes by the concentraion of 0.5 $\mu$M to 16.0 $\mu$M of cadmium chloride and those of cadmium chloride combined with sodium selenite or zinc chloride 1.2 $\mu$M, respectively was investigated. The induction of SCEs by cadmium chloride in the range of 0.5 $\mu$M to 16.0 $\mu$M increased in a dose-dependent manner. A notable increase in SCEs by sodium selenite as well as zinc chloride was also observed. However, the frequency of SCEs by cadmium chloride was inhibited by the simultaneous addition of sodium selenite and zinc chloride 1.2 $\mu$M, respectively. The mitotic index significantly decreased in higher concentration of cadmium chloride but not was significantly different in any concentration of cadmium chloride with the simultaneous addition of sodium selenite or zinc chloride. The results showed that the decreased additive SCE effect was observed when induced by the combined treatment which could suggest that sodium selenite and zinc chloride have a protective effect on cadmium chloride.

• Korean Journal of Medicinal Crop Science
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• v.18 no.3
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• pp.186-190
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• 2010

The chromosome number was identified and fluorescence in situ hybridization(FISH) mapping of 5S and 45S rDNAs were conducted for C. minima and C. lanceolata in the genus Codonopsis from Jeju island. In this study, we have confirmed that the somatic metaphase chromosome number determined as 2n=2x=16 was the same as the findings from the previous studies. While the conventional staining method makes it rather difficult to distinguish satellite chromosomes due to high degree of variability, FISH analysis produced the exact number and location of 5S and 45S rDNAs. Both species in the genus Codonopsis have a pair of 5S rDNA and their gene loci were observed on chromosome 3. Although two pairs of 45S rDNAs (one on chromosome 1 and the other on chromosome 8) were identified in both species, the 45S rDNA signals on chromosome 8 in C. minima were significantly weaker than those on chromosome 1. In addition, the 45S rDNA signals on chromosome 1 in C. lanceolata showed that the chromosome is non-homologus. In this study, we have determined cytogenetic characteristics of C. minima and C. lanceolata according to their gene replication patterns.

• Journal of Veterinary Clinics
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• v.19 no.3
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• pp.290-294
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• 2002

The frequencies of gamma-ray-induced micronuclei (MN) in cytokinesis-blocked (CB) lymphocytes at several doses were measured in three donors of Korean native cattle and Korean native goat. Measurements performed after irradiation showed a dose-related increases in MN frequency in each of the donors studied. When analysed by linear-quadratic model the line of best fit was cattle : y : 0.1016D +$0.0118D^2$+0.0147, goat : y = 0.1353D +$0.0043D^2$+0.0087 (y : number of MN/CB cells and D = irradiation dose in Gy). The relative sensitivity of goat lymphocytes compared with cattle lymphocytes was estimated by best fitting linear-quadratic model based on the radiation-induced MN data over the range from 0 Gy to 4 Gy. In the case of MN frequency with 0.05, 0.1, 0.2, 0.4 and 0.8, the relative sensitivities of goat lymphocytes were 1.106. 1.166. 1.140, 1.069 and 0.976 respectively. Our in vitro radiobiological study confirmed that the cytogenetic response obtained in blood from cattle and goat can be utilized for application in environmental studies.

• Toxicological Research
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• v.5 no.2
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• pp.71-77
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• 1989

A mouse whole animal bioassay was employed to screen for potential mutagenicity of ethanol/water extracts of 16 Chinese herbal drugs that are commonly prescribed in Korea. Specific cytogenetic toxicity was measrured by recording evidence of clastogenesis toxicity was measured by recording evidence of clastogenesis via the mouse bone marrow micronucleus test. Male ICR mice administered ethanol extract of Pinelliae tuber (Pinellia eternata Breitenbach, ARACEAE, 양복) and ddY female mice administered extract of Angelica Koreanae radix(Angelica Koreana Maximowicz, UMBELLIFERAE, ) (both by oral administration, at a dose of 600 mg/kg), in a short-term dosing schedule, demonstrated significant increase in micronucleated polychromatophilic erythrocytes, indicating the increase of clastogenicity.