• Journal of Genetic Medicine
• /
• v.8 no.2
• /
• pp.135-138
• /
• 2011

The authors of the present study report the prenatal detection of a chromosomal abnormality with additional satellites on the distal short arm of chromosome 8. A 35-year-old woman was referred for amniocentesis because of her advanced maternal age and positive result for maternal serum screening test. Cytogenetic analysis of cultured amniocytes showed a satellite 8p chromosome. The satellite 8p chromosome was positive for nucleolus organizer region (NOR) staining. The parents' karyotypes were normal. Fluorescence in situ hybridization (FISH) study for metaphases of fetal amniocytes revealed a cryptic translocation of chromosomes 8p and 22p. The fetal karyotype was described as 46,XY,8ps.ish t(8;22)(p23.3;p11.2) (D8S504-;D8S504+)dn. The parents decided to continue the pregnancy and a phenotypically normal boy was born at 38 weeks of gestation. In case of de novo terminal NORs detected prenatally, more accurate cytogenetic and molecular analysis should be performed in order to rule out cryptic chromosomal rearrangement among other chromosomes.

• Journal of Korean Society of Forest Science
• /
• v.77 no.1
• /
• pp.53-64
• /
• 1988

The idiogram of pine chromosomes was obtained from the length, the ratio of the long and short arm, and the position of the secondary constriction. The descending order of the long arm was found by analyzing the idiogram for 6 species of hard pines and 5 species of soft pines growing in Korea. The basic chromosome number of the genus Pinus was n=12, of which the ten chromosomes were the M-type showing similar S/L ratio, and the other two short chromosomes were the heterobrachial SM-type and the sub-median centric SM-type. The interspecific identification was able to made by comparing the number and the position of the secondary constriction, and the pattern of descending order of the long arm. The intraspecific variation was also able to be identified by comparing the long arms Descending order among the provenaces. Some differences were found in the chromosomal structures between the hard- and the soft-pines. However, the differences were not apparent as much as those in the morphological characteristics. The results might not be exactly reproducible because of the variable responses of chromosomes depending on concentration of the chemicals, the temperatures and time of the treatments, and the analytical errors during the preparateur preparation.

• Korean Journal of Animal Reproduction
• /
• v.13 no.2
• /
• pp.113-120
• /
• 1989

In order to determine the sex of preimplantation embryos prior to transfer in cattle, a series of experiments were carried out using 45 Holstein donor cows to examine the ovarian response on the gonadotropin and PGF2${\alpha}$, and the morphology of fresh embryos or frozen/thawed embryos after deep freezing at -196$^{\circ}C$. The sexing of embryos treated with the medium containing H-Y antiserum(10%, v/v) and FITC anti-mouse IgG(10%, v/v) were analysed by chromosomal analysis, and the sex of the embryos which survived were ascertain after delivering the pups. The results obtained were summarized as follows ; 1. The average number of developed follicle and corpus luteum per cow were 13.5 and 8.1, and the ovalation rate was 60.1%. 2. Of 220-ova recovered, 75(34.1%) were morula and 91(41.4%) were blastocyst, and the morphological normal and abnormal rate of ova recovered were 75.5% and 24.5%, respectively. 3. Of 39 frozen/thawed embryos, the scores of normal morula and blastocyst, after thawing were 79.2%(19/24) and 73.3%(11/15). The average rate of frozen/thawed embryos which appeared morphologically normal post thawing was 76.9%(30/39). 4. The sex ratio was measured using the embryos treated with immunofluorescence assay to examine the relationship between embryo developmental stage, sex ratio of morula stage embryo was 42.2%(19/45) fluorescing and 57.8%(26/45) non-fluorescing, on the other hand, the ratio switched to 46.8%(29/62) fluorescing and 53.2%(33/62) non-fluorescing embryo in blastocyst stage. The sex ratio was also measured between fresh and frozen/thawed embryos, fresh and frozen/thawed treated embryos were indicated 45.8%(38/83) fluorescing, 54.2%(45/83) non-fluorescing and 41.7%(10/24) fluorescing, 58.3%(14/24) non-fluorescing. This trend indicated the approximal sex ratio was 1 : 1. 5. The result of karyotype test showed the successful rate of sexing embryo is fluorescing and non-fluorescing was 21.2%(7/33) and 29.6%(8/27). The female to male ratio within 33 fluorescing was 28.6 : 71.4, and the ratio of 27 non-fluorescing embryos was 87.7 : 12.5. 6. Of the embryo transferred after assignment of H-Y phenotype, five of the fluorescing embryos survived to term, all was males. Whereas six non-fluorescing embryos also survived to term and the sexes of the calves were 1 male 5 female.

• Clinical and Experimental Reproductive Medicine
• /
• v.30 no.3
• /
• pp.223-231
• /
• 2003

Objective: The aim of the present study was to evaluate the clinical efficiency of fluorescent in situ hybridization (FISH) in the prenatal diagnosis of chromosomal aneuploidy. Methods: We reviewed data of 268 cases to identify women undergoing genetic amniocentesis at cytogenetic laboratory, from January 2000 to December 2002. Amniotic fluid was submitted for both rapid FISH on uncultured interphase amniocytes using a commercially available DNA probe for chromosome 13, 18, 21, X, Y and standard karyotyping on cultured metaphase amniocytes. Results from FISH and full karyotype were compared. Results: There were 251 cases (84%) normal and 17 cases (16%) abnormal in FISH results. All 17 cases of trisomy 13, 18, 21 including two cases of mosaicism and sex chromosome aneuploidies which are detected by FISH were confirmed with conventional cytogenetics and there was no false positive result. Twenty two cases had karyotypically proven abnormalities that could not have been detected by the targeted FISH. Conclusion: Interphase FISH analysis of uncultured amniotic fluid cells has been shown to be an effective and reliable technique for rapid fetal aneuploidy screening during pregnancy as an adjunctive test to conventional cytogenetics.

• Korean Journal of Plant Taxonomy
• /
• v.42 no.4
• /
• pp.307-315
• /
• 2012

Somatic chromosome numbers for 10 taxa and karyotypes analysis for 6 taxa of Korean Vicia were investigated. Somatic chromosome numbers of treated taxa were 2n = 12, 14 or 24 and therefore they proved to be diploid or tetraploid with basic chromosome numbers of x = 6 or 7. The chromosome number of V. hirticalycina (2n = 2x = 12) was reported for the first time in this study. The chromosome numbers of nine taxa were the same as in previous studies; V. angustifolia (2n = 2x = 12), V. cracca (2n = 4x = 24), V. hirsuta (2n = 2x = 14), V. tetrasperma (2n = 2x = 14 + 2B), V. amurensis (2n = 2x = 12), V. chosenensis (2n = 2x = 12, 12 + 2B), V. unijuga (2n = 4x = 24), V. unijuga f. minor (2n = 4x = 24), V. venosa var. cuspidata (2n = 4x = 24). The karyotypes of V. cracca, V. amurensis, V. hirticalycina, V. unijuga, V. unijuga f. minor, V. venosa var. cuspidata were observed as 2 m + 8 sm + 2 st, 2 m + 2 sm + 2 st, 3 m + 1 sm + 2 st, 4 m + 6 sm + 2 st, 4 m + 6 sm + 2 st, 4 m + 8 sm, respectively.

• Animal Systematics, Evolution and Diversity
• /
• v.15 no.2
• /
• pp.153-164
• /
• 1999

One hundred and eleven samples of six subspecies of striped field mouse, Apodemus agrarius Pallas from Korea, China and Russia, were used for the analysis of mitochondrial DNA(mtDNA) fragment patterns resulted from the digestion with eight restriction enzymes by blot hybridization technique. All 32 fragments, nine mtDNA haplotypes, and four major subgroups with the mean divergence value of 0.896 to 1.150% were revealed. In summary, three forms are recognized: [I, subspecies chejuensis (Chejudo island, Korea)], [II, subspecies pallescens (southwestern Korea), coreae (central Korea), and septentrionalis (Russia)], and [III, subspecies manchuricus (northeastern China) and pallidior (northern China)], although some samples of subspecies coreae are somewhat different from almost all samples of six subspecies, and some samples of subspecies pallidior are similar with all samples of subspecies septentrionalis to form same haplotype. It is confirmed that A. agrarius chejuensis is a distinct subspecies, that subspecies coreae (including pallescens) is also a distinct subspecies, that subspecies manchuricus and pallidior are synonyms of subspecies ningpoensis, and that subspecies septentrionalis is a synonym of subspecies ningpoensis, and that subspecies septentrionalis is a synonym of subspecies agrarius. Moreover, it seems that A. agrarius shows constant karyotype, minimal variation in mtDNA genotype, and considerable divergence in morphometric characters, although further analyses with additional samples of A. agrarius in Eurasia will be necessary to determine the degree of variation of these taxonomic characters and to clarify subspecies classification as well.

• Journal of Genetic Medicine
• /
• v.5 no.1
• /
• pp.65-68
• /
• 2008

Molecular cytogenetics allows the identification of unknown chromosome rearrangements, which is clinically useful in patients with mental retardation and/or development delay. We report on a 31-year-old woman with severe mental retardation, behavior development delay, and verbal performance delay. Conventional cytogenetic analysis showed a 46,XX,add(8)(p23.3) karyotype. To determine the origin of this unbalanced translocation, we performed array CGH and subtelomeric FISH. The results showed that the distal region of chromosome 8p was added to the terminal of chromosome 13q. This was confirmed the final result of 46,XX,der(8)t(8:13)(p23.3;q32.1)dn.

• Journal of Animal Science and Technology
• /
• v.45 no.1
• /
• pp.1-12
• /
• 2003

The present study was carried out to establish the standard karyotype of the Korean Native Chicken and to find their chromosomal band markers using high-resolution banding technique. Chromosome analysis was performed on early chick embryos following in vitro culture of fertilized eggs of the yellow-brown and the red-brown lines of the Korean Native Chicken which had been established at National Livestock Research Institute. The high-resolution banding of the chromosome was achieved by treating the embryos with ethidium bromide and colchicine during culture. On GTG-banding, the Korean Native Chicken exhibited a typical chick banding pattern in all the macrochromosomes. Overall chromosomal morphology and positions of typical landmarks of the Korean Native Chicken were virtually identical to those of White Leghorn and International System for Standardized Avian Karyotypes(ISSAK). However, the lengths and G-band numbers of the Korean Native Chicken macrochromosomes were greater than those of White Leghorn and ISSAK. Especially in chromosomes 1 and Z, the Korean Native Chicken exhibited more separated bands in compared with ISSAK. In C-banding patterns, although a lot of observed cells had C-band polymorphic patterns, almost the Korean Native Chicken macrochromosomes had heterochromatic C-band on centromeres and/or near terminal part. However, the heterochromatic C-band was constantly observed at the end of q-arm of Z chromosomes and on the whole W chromosome. In addition, the Korean Native Chicken exhibited distinctive heteromorphic patterns of C-bands on the centromere of chromosome 3 and at the end of q-arm of Z chromosome between homologous chromosomes.

• Clinical and Experimental Reproductive Medicine
• /
• v.26 no.1
• /
• pp.43-54
• /
• 1999

Klinefelter's syndrome is a very important disease in gynecologic endocrinologic fields, because the patients with this karyotype complain of infertility, azospermia and ambiguous genitalia. Y chromosome is an important chromosome which determine genetic sex and the structure of gonad and genitalia. In this study, to elucidate the cytogenetic characteristics and clinical features of Klinefelter's syndrome and Y chromosomal abnormalities in Korea, we studied 303 cases of Klinefelter's syndrome and 11 cases of Y chromosomal abnormalities which were diagnosed by chromosomal analysis at the Cytogenetic Laboratory, Institute of Reproductive Medicine and Population, Seoul National University for 12 years from January 1984 to December 1996. The results of this study showed as follows: 1. In a total of 9275 cases, there were 303 cases (3.3%) of Klinefelter's syndromes, 11 cases (0.1%) of Y chromosomal abnormalities. 2. In 102 cases of patients showed typical clinical features of Klinefelter's syndrome, 101 cases (99%) of them were diagnosed to Klinefelter's syndrome in karyotyping. 3. In 303 cases of Klinefelter's syndrome, there were 277 cases (91.4%) of 47,XXY complement, 16 cases (5.3%) of mosaicism, 2 cases (0.7%) of 48,XXXY, 5 cases (1.7%) of 48,XXYY and 3 cases (1.0%) of 49,XXXXY. 4. In 303 cases of Klinefelter's syndrome, 284 cases (93.7%) of them were diagnosed after puberty and only 19 cases (6.3%) of them were diagnosed before puberty. 5. In 303 cases of Klinefelter's syndrome, there were 146 cases (48.2%) of patients with infertility-associated chief complaints, 101 cases (33.3%) of patients with typical clinical features of Klinefelter's syndrome, 22 cases (7.3%) of patients with ambiguous genitalia. 6. In patients with Klinefelter's syndrome, 48,XXYY and 49,XXXXY had serious symptoms such as mental retardation, developmental delay, Down syndrome-like features, congenital anomalies, but 48,XXYY and other mosaicisms had infertility-associated symptoms or ambiguous genitalia. 7. The 8 cases of polysomy Y (XYY complement) showed several serious symptoms such as Down syndrome-like features, mental retardation, fragile X syndrome-like feature, congenital anomalies, ambiguous genitalia which could be detected before puberty.

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