• Clinical and Experimental Pediatrics
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• v.48 no.12
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• pp.1317-1323
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• 2005

Purpose : This study was performed to evaluate the recent frequency of karyotypes in different sex chromosome abnormalities and to evaluate the age and clinical manifestations at diagnosis. Methods : Peripheral blood leukocytes were obtained from subjects who were clinically suspected to have sex chromosome abnormalities and referred to the cytogenetic laboratory in the Department of Pediatrics, Kyungpook National University Hospital from February 1981 to August 2001. Results : The relative frequencies of different sex chromosome abnormalities were Klinefelter(52 percent), Turner(42 percent), XXX syndrome(3 percent) and mixed gonadal dysgenesis(3 percent). The populations of different karyotypes in Klinefelter syndrome were 47,XXY(97 percent) and 46,XY/47,XYY(3 percent). The populations of different karyotypes in Turner syndrome were 45,X(67 percent,), mosaicism(23 percent), and structural aberrations(10 percent). The populations of different karyotypes in XXX syndrome were 47,XXX(67 percent,) and 46,XX/47,XXX(33 percent). All mixed gonadal dysgenesis were 45,X/46,XY. Eighty one percent of sex chromosome abnormalities was diagnosed after puberty. Patients diagnosed with Klinefelter and Turner syndrome in infancy showed nearly normal phenotypes or had minor congenital malformations. Conclusion : Early diagnoses of sex chromosome abnormalities is required to prevent associated morbidities and to maximize growth and development. We have to pay careful attention in diagnoses of Turner syndrome because of the high proportion of mosaicism and structural aberrations.

• Journal of Genetic Medicine
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• v.2 no.2
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• pp.49-51
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• 1998

Wolf-Hirschhorn syndrome (WHS) is caused by a deletion of the short arm on chromosome 4 and is characterized by multiple congenital abnormalities, growth and mental retardation. In this case report, we performed amniocentesis for the chromosome analysis on a 25-year-old pregnant woman at 16 weeks of gestation whom we suspected of Edward's syndrome by the triple test of maternal serum and ultrasonography. The result of analysis revealed a karyotype of the fetus with 46,XY,del(4)(p15) by trypsin Giemsa's banding technique. With the result, we were able to diagnose the fetus as having WHS. As such, after therapeutic termination of the pregnancy, we confirmed WHS through the sampling of tissue by both trypsin Giemsa's banding and fluorescence in situ hybridization (FISH) method. To determine the origin of the WHS, we further tested the karyotypes of the parents. As parental karyotypes were found to be normal, we determined the case of the fetal WHS to be de novo.

• Asian Pacific Journal of Cancer Prevention
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• v.14 no.9
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• pp.5341-5344
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• 2013

Objectives: To explore the relationships between age, cytogenetic subgroups, molecular markers, and cells with leukemic aberrant immunophenotype in patients with acute myeloid leukemia (AML). Methods: In this study, we evaluated the correlations between age, cytogenetic subgroups (normal, balanced and unbalance karyotype), molecular mutations (NPM1, FLT3-ITD, and CEBPA mutations) and marrow leukemia cells (LC) identified by flow cytometry in 256 patients with de novo AML. Results: From age group 10-19 years to age group ${\geq}60$ years, the percentage of LC decreased from $67.0{\pm}18.4%$ to $49.0{\pm}25.1%$ (F=2.353, P=0.041). LC percentage was higher in patients with balanced karyotypes ($65.7{\pm}22.4%$), than those with unbalanced karyotypes ($46.0{\pm}26.6%$) (u=3.444, P=0.001) or a normal karyotype ($49.9{\pm}22.1%$) (u=5.093, P<0.001). Patients with FLT3-ITD ($64.3{\pm}19.5%$) had higher LC percentages compared with those without ($54.2{\pm}24.3%$) (u=2.794, P=0.007). Conclusions: Associations between age, cytogenetics, molecular markers, and marrow leukemia cells may offer beneficial information to understand the biology and pathogenesis of AML.

• The Korean Journal of Malacology
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• v.3 no.1
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• pp.24-34
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• 1987

The melaniid snails belonging to genus Semisulcospira were collected in the Kangwha and Yonchon areas of Korea in 1986 through 1987 in order to carry out a cytotaxonomic study, The snails were first narcotized with menthol and fixed with 70% ethyl alcohol for morphological identification. The gonads of adult snails were used for chromosome analyses by the technique of Imai et al. (1977) with minor modification. Slide preparations were observed under high power fields using a Leitz light miscroscope. The results obtained in the present stuedy are summarized as follows: 1)The sanils collected from Kangwha and Yonchon areas were identified as Semisulcospira forticosta(Martens, 1886)and S. gottschei (Martens, 1886) respectively.2)No specific differences were obwerved in details of the chromosome cycle between S. forticosta and S. gottschei.3) Diploid chromosome numbers observed at mitotic metaphase were 36. There was no difference in chromosome numbers between S. forticosta and S. gottschei.4) There were morphological differences in the karyotypes of the two species. The spermatogonial metaphase karyotype of S. forticosta consists of six pairs of metacentric, eleven pairs of submetacentric, and one pair of acrocentric chromosomes. The spermatogonial metaphase karyotype of S. gottschei consists of five pairs of metacentric, tselve pairs of submetacentric, and one pair of acrocentric chromosomes. Summarizing the aboxe results, the two species of Semisulcospira employed in this study have same chromosome numbers(2n=36)with different karyotypes.

• Parasites, Hosts and Diseases
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• v.30 no.4
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• pp.283-288
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• 1992

To observe the transmission patterns of karyotype of Pneumocystis carinii (Pc) by rat colonies, three strains of rats, Sprague-Dawlcy(SD), Wistar(W) and Fisher (F) from various animal vendors, were suppressed of their immunity by injection of methyl prednisolone. They were kept for 5 to 13 weeks in 3 different animal rooms, A, B, and C. The purified organisms were prepared in low melting point agarose gel by embedded Iysis method for pulsed field gel electrophoresis. Field inversion gel electrophoresis showed 2 patterns of the kart·otype of Pc. The rooms A and C contained SD rats from the source p, and also the room A was used for F and W rats. However, Pc from all of the SD and F rats in the room A showed same karyotypes, the pattern I. The SD rats from difFerent vendors, M and 5, were reared in the room B, and shared the same Pc karyotypes, the pattern II . The rats of W strain were from the vendor M, and immune-suppressed in the animal room A. Five weeks after the expe- riment, the Pc showed the karyotype pattern II but the pattern became mixed with the type I after 7 to 8 weeks. The Bindings revealed that the animals born and reared in the same animal quarter harbored Pc with same karyotypes. If the animals were kept under immune-suppression in the same room with heavily infected hosts, they could be infected by Pc from their neighbors. The present experimental findings suggest that Pc is transmitted among rats through the air.

• The Korean Journal of Malacology
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• v.11 no.1
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• pp.62-69
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• 1995

연두순부(Ischnochiton comptus)와 가는 줄연두군부(I. hakodadensis)두 종의 정소를 재료로하여 핵형 분석을 실시하였다. 두 종의 염색체는 모두 중부염색체로 구성되어 있고, 염색체 수는 n=12이며, 성염색체는 관찰되지 않았다. 이들 염색체는 이들의 크기로는 별도의 염색체군으로 나누어지지 않았다.

• The Korean Journal of Zoology
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• v.29 no.2
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• pp.75-78
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• 1986

Karyotypes of Korean spotted serpent head [Channa argus (Cantor)] were analyzed to obtain a basic information on the cytogenetics of this fish. Diploid chromosome numbers were found to be 48, of which 2 were submetacentric, 10 were submeta- or subtelocentric, and 26 were acro- or telocentric chromosomes without notably hetermorphic sex chromosomes. Cytogenetical implications of the results are discussed.

• The Korean Journal of Zoology
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• v.34 no.1
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• pp.54-58
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• 1991

감돌고기속 어류에는 2종이 알려져 있으며 이들은 모두 한국고유어종이다. 감돌고기 Pseudopugtungia nigra의 핵형분석 결과 diploid chromosome number는 50이었으며, 7쌍의 metacentric, 18쌍의 $_{submeta}$telocentric chromosome으로 구성되어져 잇었다. 가는 돌고기 P. tenuicorpus의 2N은 50이었으며 10쌍의 metacentric, 15쌍의 $_{submeta}$telocentric chromosome으로 구성되어져 있었다.

• Animal cells and systems
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• v.4 no.2
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• pp.103-104
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• 2000

The chromosome numbers of two sea anemones, Anthopleura midori and A. kurogane, were determined to be 2n=18 in both by the air-drying method. The chromosomes of A, midori are all telocentric, while the first pair of chromosomes of A. kurogane is subtelocentric and the remainders are all telocentric.

• Parasites, Hosts and Diseases
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• v.30 no.3
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• pp.183-190
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• 1992

Molecular karyotyping was applied to Pneumocystis carinii (Pc) from two strains of experimental rats, Sprague Dawley(SD) and Fisher(F), in Korea. Field inversion gel electrophoresis and contour clamped homogeneous electric field electrophoresis resolved 15 chromosomal bands from the Pc. The size of the bands was estimated 270kb to 684kb from SD rats, and 273kb to 713 kb from F rats. The bands of 283 kb from SD rats and of 273 kb from F rats stained more brightly suggesting duplicated bands. Total number of chromosomes was at least 16, and total genomic size was estimated 7×106 bp. All of the bands from F rats hybridized to the probe of repeated DNA sequences of Pc and the band of 448 kb size was proved to contain rDNA sequences, but Pc. chromosome bands from SD rats showed no reactions to the probes. The 2 different karyotypes of p. carinii from 2 strains of rats were maintained consistently for 2 years.