• The Korean Journal of Zoology
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• v.33 no.3
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• pp.255-259
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• 1990

The Karyotypes of Korean Sciurus uulgaris coreae and Tamias sibiricus asiaticus were analyzed by the G-banding method. Chromosomes of two species could be identified by G-banding patterns. The banding patterns of chromosomes 9, 10, 12 and X of S. vulgaris coreae were identical to those of chromosomes 6, 9, 12 and X, respectively of T. sibiricus asiaticus. It was shown that chromosomes 4, 10, 7 and 17 of T. sibiricus asiaticus resulted from pericentric inversion of chromosomes 1, 7, 8 and 16 of S. vulgaris coreae. These results suggested that pericentric inversion was an important factor in the karyological differentiation of two species.

• The Korean Journal of Zoology
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• v.31 no.2
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• pp.104-110
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• 1988

The comparative karyological analysis of the Korean treefrog, Hyla japonica and Hyla suweonensis performed by conventional giemsa-staining and NOR-staining method. The karyotypes of both species were the same (2n=24). However, according to the Karyological analysis, the 6th chromosomes of the two species distinctly different. Eventhough the 6th chromosomes of the two species shown the same % length, construction of the 6th chromosome of H.japonica was subtelocentric chromosome while H. suweonensis was submetacentric chromosome. This phenomena could explain that the morphological differences in the 6th chromosomes might be caused by pericentric inversion. The two species have 1 pair of NOR site in the 6th chromosome.

• The Korean Journal of Zoology
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• v.32 no.4
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• pp.358-364
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• 1989

한국산 박새속 조류 Porus major(박새), Porus atter(진박새), Porus poiustris(쇠박새), Parus varius(곤줄박이)의 핵형을 일반염색 방법으로 분석한 결과 4종의 염색체 수는 모두 2n=78∼80으로 나타났고, 성 염색체를 포함한 7쌍이 macrochromosome, 그 외 32∼33쌍이 microchromosome이었다. 종간 차이를 나타내는 염색체는 5번째 염색체와성염색체인 Z·W-염색체였다. 이러한 핵형의 차이는 5번째 염색체에서는 pericentric inversion, 성 염색체에서는 전좌에 의한 것으로 생각된다. The chromosomal analysis of Pows major, Paws after, Paws palustris and Paws vorius of the genus Paws in Korea were performed by conventional Giemsa staining method. The diploid number of four species were 2n=78-80, and there were 7 pairs of macrochromosomes and 32 or 33 pairs of microchromosomes. The 5th and Z·W-chromosomeswere distinctly different between interspecies. Probably these karyological differences were speculated by pericentric inversion in 5th chromosome and translocation in Z·W-chromosomes.

• The Korean Journal of Zoology
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• v.25 no.2
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• pp.81-92
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• 1982

G- and C-banding pattern analyses of striped field mice (Apodemus agrarius coreae) using 17 specimens from four localities in Korea revealed that centromeric heterochromatin results in the variation of No. 1 chromosome pair (telocentri $c_telocentric), i.e., centromeric heterochromatin sometimes appeared to be recognized as short arm. G- and C-banding patterns of four black rats (R. rattus rufescens) from two localities in Korea showed that No. 1 chromosome polymorphism (telocentri $c_telocentric) is due to pericentric inversion. In addition, G- and C-banding patterns of black rats mentioned above are idiogrammed.ammed.

• Journal of Genetic Medicine
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• v.7 no.1
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• pp.78-81
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• 2010

Pericentric inversion is not rare in humans and is usually benign. However, pericentric inversion can lead to production of an unbalanced recombinant and might be a cause of repetitive pregnancy loss. Pericentric inversion of chromosome 22 is rare and only a few cases have been reported. We report a case of inv(22)(p13q12) carrier who had history of repetitive pregnancy loss including three spontaneous abortions and one fetal hydrops in which the chromosomal complement was rec(22)dup(22q) inv(22)(p13q12)mat. The maternal inv(22) and fetal rec(22) were confirmed by fluorescence in situ hybridization using region-specific probes (TUPLE1 on 22q11.2 and ARSA on 22q13). Because the identification of inv(22) or rec(22) in conventional karyotyping might be easily overlooked, great attention and additional molecular tests are required for accurate diagnosis of inv(22) and rec(22).

• 대한생식의학회:학술대회논문집
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• 1996.11a
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• pp.53.1-53.1
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• 1996

• Clinical and Experimental Reproductive Medicine
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• v.18 no.2
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• pp.223-231
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• 1991

During the years 1984 to 1989, in order to determine of chromosome abnormalities are associated with recurrent spontaneous abortions, cytogenetic studies were performed 384 couples. Abnormal karyotypes were found in 51(13.3%) couples. There was no apparent relation with the number of abortions. The abnormalities were as follows: 17(4.4%) balanced translocation; 15(3.9%) mosaicisms; 17(4.4%) pericentric inversion; 2(0.5%) addition or isochromosome. Chromosome abnormalities were observed in 34(67%) of the wives and 17(33%) of the husbands. In addition, we detected polymorphic variants of chromosomes in 89(23.2%) subjects. Reciprocal translocations(13/17) were more common than the robertsonian type(4/17). All of the mosaicisms were associated with the sex chromosomes in 10 females and 5 males subjects. Pericentric inversions were most common in chromosome 9. Compared to previously studied general populations, significantly higher frequencies of translocations, mosaicisms and inversions were found in couples with repetitive spontaneous abortion. This suggests that couples should have chromosome studies after two or more abortions.

• Journal of Genetic Medicine
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• v.3 no.1
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• pp.1-4
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• 1999

Scimitar syndrome is a rare congenital anomaly that is characterized by hypoplasia of the right lung and the right pulmonary artery with anomalous pulmonary venous drainage to the inferior vena cava. The scimitar vein is usually visible on chest radiographs, but may be obscured by the heart. It is essential for surgical correction to establish the point of drainage of the anomalous vein and associated anomalies. There are recent reports of familial total anomalous pulmonary venous return suggesting heritable forms of this anomaly. Although genetic factors are believed to have important roles in congenital heart disease, few genes involved in heart development have been located. We report a case of familial chromosome 9 inversion with Scimitar syndrome in an offspring who presented with dextrocardia. Evaluation with magnetic resonance cineangiograph imaging demonstrated an anomalous pulmonary vein draining into the inferior vena cava above the diaphragm and hypoplasia of the right lung and the right pulmonary artery. Chromsome analysis showed pericentric inversion of chromosome 9, inv 9 (p13, q21), in the patient and his mother as well. A brief review of the related literature is also included.

• Korean Journal of Ichthyology
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• v.1 no.1_2
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• pp.35-41
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• 1989

An examination of the karyotypes, DNA values and nuclear sizes of three scups was undertaken as part of the study of cytogenetical evolution of order Perciformes. The chromosome number 2n=48 was the same in all three species but the numbers of chromosome arm were not identical. The distribution of genome size and nuclear volumes among species was continuous ranging from 1.287 pg and $20.78\;{\mu}m^3$ for Pagrus major down to 1.237 pg and $20.56\;{\mu}m^3$ for Acanthopagrus schlegeli. Above results indicate the possible role of pericentric inversions in the karyotypic evolution of these species.

• Journal of Genetic Medicine
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• v.5 no.2
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• pp.139-144
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• 2008

We report on two cases of pericentric inversion of X chromosome. The cases were found in a 40-year-old man with azoospermia and in a family of a 38-year-old pregnant woman. The first case with 46,Y,inv(X)(p22.1q27) had concentrations of LH, prolactin, estradiol, and testosterone that were within normal ranges; however, FSH levels were elevated. Testis biopsy revealed maturation arrest at the primary and secondary spermatocytes without spermatozoa. There were no microdeletions in the 6 loci of chromosome Y. For the second case, the cytogenetic study of thepregnant woman referring for advanced maternal age and a family history of inversion X chromosome was 46,X,inv(X)(p22.11q27.2). The karyotype of her fetus was 46,X,inv(X)(p22.1q27). Among other family members, the karyotypes of an older sister in pregnancy and her fetus were 46,X,inv(X)(p22.11q27.2), and 46,Y,?inv(X), respectively. The proband's father was 46,Y,inv(X)(p22.11q27.2). All carriers in the family discussed above were fertile and phenotypically normal. In addition, the ratio of inactivation of inv(X) by RBG-banding was discordant between the two sisters, with the older sister having only 4.1% of cells carrying inactivated inv(X) while the proband had a 69.5% incidence of late replicating inv(X). Therefore, we suggest that the cause of azoospermia in the first case might be related to inversion X chromosome with positional effect. Also, the family of the second case showing normal phenotype of the balanced inv(X) might be not affected any positional effect of genes.