• Clinical and Experimental Reproductive Medicine
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• v.50 no.3
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• pp.192-199
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• 2023

Objective: This study was conducted to investigate chromosomal abnormalities and their correlations with clinical and radiological findings in females with primary amenorrhea (PA). Methods: Detailed forms were recorded for 470 females, including the construction of three-generation pedigrees. Peripheral venous blood was drawn, with informed consent, for cytogenetic analysis. Results: An abnormal karyotype was found in 16.38% of participants. The incidence of structural abnormalities (6.8%) exceeded that of numerical abnormalities (6.15%). Turner syndrome represented 45% of all numerical abnormalities. Furthermore, the Y chromosome was detected in 5% of females with PA. Among the structural chromosomal abnormalities detected (n=32) were mosaicism (25%), deletions (12.5%), isochromosomes (18.75%), fragile sites (3.12%), derivatives (3.12%), marker chromosomes (3.12%), and normal variants (29.125%). An examination of secondary sexual characteristics revealed that 29.6% of females had a complete absence of breast development, 29.78% lacked pubic hair, and 36.88% exhibited no axillary hair development. Radiological findings revealed that 51.22% of females had a hypoplastic uterus and 26.66% had a completely absent uterus. Abnormal ovarian development, such as the complete absence of both ovaries, absence of one ovary, one absent and other streak, or both streak ovaries, was observed in 69.47% of females with PA. Additionally 43.1%, 36.1%, 67.4%, and 8% of females had elevated levels of serum follicle-stimulating hormone, luteinizing hormone, thyroid-stimulating hormone, and prolactin, respectively. Conclusion: This study underscores the importance of karyotyping as a fundamental diagnostic tool for assessing PA. The cytogenetic correlation with these profiles will aid in genetic counseling and further management of the condition.

• Journal of Animal Science and Technology
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• v.45 no.6
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• pp.901-910
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• 2003

Using the G-, C-, and NOR-banding techniques, a karyotyping for Korean Native Pig was performed. Blood samples were collected from 50 male Korean Native Pigs that had been bred at the National Livestock Research Institute and then blood cells were prepared from in vitro cultures followed by karyotyping; G-, C-, and NOR-banding patterns of metaphase chromosomes were analyzed. The karyotype of Korean Native Pig is 38, XX or XY which consists of 5 pairs of submetacentric chromosomes(Group I), 2 pairs of acrocentric chromosomes with short p-arm(Group II), 5 pairs of medium metacentric chromosomes(Group III), 6 pairs of acrocentric chromosomes(Group IV) and metacentric X and Y sex chromosomes. On GTG-banding, the Korean Native Pig exhibited a typical and identical banding pattern in each homologous chromosomes. Overall chromosomal morphology and positions of typical landmarks of the Korean Native Pig were virtually identical to those of Committee for the Standardized Karyotype of the Domestic Pig(CSKDP). However, numbers of G-bands of the Korean Native Pig chromosomes were more than those of CSKDP. In chromosomes 1, 3, 5, 6, 7, 8, 13, 14, 15, 16, 17, 18 and X, the Korean Native Pig exhibited more separated bands as compared with CSKDP. In C-banding patterns, although the quantity of heterochromatin was variable in each chromosome, most of the Korean Native Pig chromosomes had heterochromatic C-bands on centromeres. However, the heterochromatic C-band was constantly observed on the whole Y chromosome. In AgNOR staining, the NORs were located at centromeres on the chromosomes 8 and 10. The number of NORs per metaphase ranged from 2 to 4 giving a mean value of 2.13. The number of NORs were distributed on all chromosome pair 10 but not on chromosome 8. The sizes of NORs were also differed between homologous chromosomes 8. Numbers of NORs of Korean Native Pig were significantly higher than those of Yorkshire. The pattern of pig NORs was polymorphic in breeds, individuals and cells, especially on chromosome 8.

• Clinical and Experimental Pediatrics
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• v.52 no.3
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• pp.289-294
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• 2009

Purpose : To assess the usefulness of magnetic resonance imaging (MRI), karyotyping, brainstem auditory evoked potential (BAEP), electroencephalogram (EEG), tandem mass screening test, and newborn metabolic screening test in children with language delay for diagnosing underlying diseases. Methods : From January 2000 to June 2007, a retrospective chart review was performed for 122 children with language delay who visited the Child Neurology Clinic at Yeungnam University Hospital and who underwent neuropsychologic tests and other diagnostic evaluations for underlying diseases. They were grouped into phenomenological diagnostic categories, and test results were analyzed according to the underlying diseases. Results : Of 122 patients, 47 (38.5%) had mental retardation, 40 (32.8%) had developmental language disorders, 23 (18.9 %) had borderline IQ, and 12 (9.8%) had autism spectrum disorder. In 26 (21.3%) cases, the causes or relevant clinical findings to explain language delay were found. Eight (10.4%) of 77 MRIs, 6 (8.0%) of 75 EEGs, and 4 (5%) of 80 BAEPs showed abnormal results. Results directly attributed to diagnosing underlying diseases were 2 hearing defects in BAEPs and 1 bilateral perisylvian cortical dysplasia in MRIs. No abnormal results were found in karyotyping, tandem mass screening tests, and new-born screening tests. Conclusion : Commonly used tests to diagnose the cause of language delay are not very effective and should only be used selectively, according to patient characteristics. However, despite the low diagnostic yields from these tests, because many patients show abnormal results, these tests are useful when conducted in complete evaluation.

• Clinical and Experimental Reproductive Medicine
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• v.37 no.4
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• pp.361-368
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• 2010

Objective: The aim of this study was to evaluate the influences of uterine septum and their elimination on the reproductive outcomes in women who have history of recurrent spontaneous abortion (RSA) and/or infertility. Methods: The medical records of reproductive outcomes in patients who have had history of RSA and infertility who were diagnosed with uterine septum only by hysterosalpingogram (HSG) between January 2008 and December 2009 were retrospectively analyzed. The subjects who have had severe male factor, tubal factors, other uterine factors, endocrine abnormalities, peritoneal factors, and abnormal karyotyping among both partners were excluded. In 27 patients, confirmation of diagnosis by laparoscopy and elimination of uterine septum by trans-vaginal hysteroscopy was done. Seventeen patients were strongly suspected to uterine septum on HSG but tried to get pregnancy without any other procedure for evaluation and management of uterine anomaly. Age matched 42 patients who have history of RSA and/or infertility and diagnosed to normal HSG finding at same period were randomly selected as control. The medical records of reproductive outcomes were analyzed and compared between groups. Results: The mean time of observation after diagnosis was 21.8 months (10 to 32). 55.6% (15/27) of patients in patients who received trans-vaginal hysteroscopic uterine septotomy were success to get pregnancies and was significantly higher than that of 17 patients who did not receive proper management (23.5%, 4/17, p<0.05). In control population, 40.5% (17/42) were success to pregnancies and the differences were not statistically significant compared to both two study groups. The live birth rate which was excluded pregnancy loss by abnormal fetal karyotyping and congenital anomaly were 75% (9/12) in treated septated uterus group and 84.6% (11/13) in control group each which have no statistically significant different. In patients with septated uterus who did not receive proper management showed lower delivery rate (50%, 2/4) than that of other groups but was not statistically significant. Conclusion: According to present data, women with a uterine septum have an increased chance of successful pregnancy with improved obstetric outcome after proper management of the uterine cavity. And these results were showed in patients with no regard to their reproductive history. But, in case of failed to receive proper management, uterine septum can affect not only pregnancy ongoing but successful pregnancy too.

• Clinical and Experimental Reproductive Medicine
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• v.31 no.4
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• pp.261-271
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• 2004

Objective: This study was performed to evaluate the possibility of prolonged culture of human embryonic stem cells (hESC; SNUhES2) on human amniotic fluid cells (hAFC), which had been storaged after karyotyping. Method: The hAFC was prepared for feeder layer in the presence of Chang's medium and STO medium (90% DMEM, 10% FBS) at $37^{circ}C$ in a 5% $CO_2$ in air atmosphere. Prior to use as a feeder layer, hAFC was mitotically inactivated by mitomycin C. The hESCs on hAFC were passaged mechanically every seven days with ES culture medium (80% DMEM/F12, 20% SR, bFGF). Results: The hAFC feeder layer support the growth of undifferentiated state of SNUhES2 for at least 59 passages thus far. SNUhES2 colonies on hAFC feeder appeared slightly angular and flatter shape as compared with circular and thicker colonies observed with STO feeder layer and showed higher level with complete undifferentiation in seven days. Like hESC cultured on STO feeders, SNUhES2 grown on hAFC expressed normal karyotype, positive for alkaline phosphatase activity, high telomerase activity, Oct-4, SSEA-3, SSEA-4, Tra-1-60 and Tra-1-81 and formed embryoid bodies (EBs). Conclusion: The hAFC supports undifferentiated growth of hESC. Therefore, these results may help to provide a clinically practicable method for expansion of hESC for cell therapies.

• Korean Journal of Poultry Science
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• v.36 no.4
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• pp.293-300
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• 2009

The rate of fetus with abnormal chromosomes increase with maternal age. Nondisjunction of aging oocyte chromosome is a major reason for the increased rate of abnormalities. Telomeres are the ends of eukaryotic chromosome, which are essential for chromosome stability and are related in cell senescence. This study was carried out to analyze the chromosome aberration rate and amount of telomeric DNA in chick embryo along with maternal age. Fertilized eggs and blood were sampled from White Leghorn layers starting at 20 weeks through to 70 weeks age at 10 weeks interval. Chromosome aberration rate was analyzed by karyotyping. The amounts of telomeric DNA in embryonic cells and lymphocytes were quantified by Quantitative Fluorescence in situ Hybridization method. The chromosome aberration rate in chick embryos significantly differed with maternal age. The chromosome aberration rate increased at early laying period and beyond 70 weeks of maternal age. Therefore, chromosome aberration rate was affected by maternal age due to ovulated oocytes state. However, the amount of telomeric DNA on embryonic cells did not differ significantly with maternal age. Thus, maternal age does not affects telomere quantity in their embryos due to cellular reprograming at early embryonic stage after fertilization.

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

• Clinical and Experimental Reproductive Medicine
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• v.35 no.1
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• pp.39-48
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• 2008

Objective: The aim of this study was to investigate whether multipotent germline stem cells (MGSCs) can be established from neonatal mouse testis. Methods: Various cells containing MGSCs were collected from neonatal testis of ICR mice and allocated to plates for in vitro culture. After 7 days in culture, the cells were passed to a fresh culture plate and continuously cultured. From the third or fourth passage, the presumed MGSCs were cultured and maintained on mitomycin C-inactivated STO feeder cells. The MGSCs were cultured in a condition where mouse embryonic stem cells (ESCs) are cultured. Characteristics of the MGSCs were evaluated by RT-PCR, immunocytochemistry, alkaline phosphatase activity, karyotyping, and transmission electron microscopy. Results: Two MGSCs lines were established from 9 pooled sets of neonatal testicular cells. MGSCs colonies were morphologically undistinguishable from ESCs colonies and both MGSC lines as well as ESCs expressed undifferentiated stem cell markers, such as Thy-1, Oct-4, Nanog, Sox2 and alkaline phosphatase. Fine structure of undifferentiated MGSCs were similar to those of ESCs and 60% of MGSCs (12/20) had normal karyotype at passage 10. They were able to form embryoid bodies (EBs) and MGSC-derived EBs expressed marker genes of three germ layers. Conclusion: We could establish the MGSCs from neonatal mouse testis and they were differentiated to multipotent lineages of three germ layers. Molecular characteristics of MGSCs were similar to those of ESCs. Our results suggest a possibility that multipotent stem cells derived from testis, the MGSCs, could replace the ESCs in biotechnology and regenerative medicine.

• Journal of Yeungnam Medical Science
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• v.6 no.2
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• pp.195-205
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• 1989

Development of drug resistance in tumors during treatment is a major factor limiting the clinical use of anticancer agents. When tumor cells acquire resistance to anticancer drug, they show cross-resistance to other antitumor agents. In the present study, SNU-1 cell was induced adriamycin $10^{-7}M$ drug resistance, SNU-1/ADR, in vitro culture system. We got the doubling time and number for viability test during 96 hours by MTT assay. To investigate the cross resistance of various anticancer drugs in human stomach cancer cell SNU-1 and SNU-1/ADR. We compared $IC_{50}$ (drug concentration of 50% reduction) and the relative resistance(RR). SNU-1/ADR was expressed multidrug resistant with vinblastine(RR ; 31.62), vincristine(RR ; 29.50), dactinomycin(RR ; 21.37), epirubicin(RR ; 17.78), daunorubicin(RR ; 14.12), adriamycin(RR ; 7.76), and etoposide(RR ; 4.46), and other drugs, 5-fluorouracil, cisplatin, cyclophosphamide, methotrexate, and aclarubicin, have not cross resistant with adriamycin. There was double minute chromosome in SNU-1/ADR by karyotyping although this change was not seen in SNU-1.

• Journal of Aquaculture
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• v.20 no.2
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• pp.140-143
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• 2007

Cytogenetic analyses of an endemic species, Coreoleuciscus splendidus (Cyprinidae) was performed including erythrocyte measurement, chromosome count and karyotyping, nucleolar organizing region (NOR) banding and flow cytometric analysis of genome size. C. splendidus had the same modal chromosome number of 2n = 48 between sexes, however, displayed a sex-related dimorphism in their chromosome karyotypes. Males represented a pair of heteromorphic chromosomes which couldn‘t be seen in any female individuals, indicating that the sex determination mechanism of this species should be a typical XX-XY based male heterogamety (female=10M+6SM+8A+XX vs male=10M+6SM+8A+XY). Other cytogenetic features such as Ag-NORs located in a pair of acrocentric chromosomes, estimated nuclear volume ($28{\mu}m^3$) and cellular DNA content (2.4 pg/cell) suggest that genetic recombination might be the main driving force responsible for the evolution of this species rather than the polyploidy-based evolutionary process as in many other Cyprinidae species.