• Journal of Marine Life Science
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• v.3 no.1
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• pp.9-21
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• 2018

This study investigated cytogenetic and hematological and histological characteristics between diploid and spontaneous triploid on Cyprinidae (Crucian carp, Carassius auratus; crucian carp, C. cuvieri and common carp, Cyprinus carpio) in four major rivers of Korea. In our results, DNA contents of triploid Cyprinidae were 50% more than those of diploid Cyprinidae. Also, erythrocyte size of triploid Cyprinidae was 50% larger than those of diploid Cyprinidae. In all sampling rivers, sex ratios of C. auratus were biased to female, and especially, triploid groups of C. auratus were all female groups (p<0.05). In principle, sex ratios of C. cuvieri and common carp were equivalent between male and female.

• Clinical and Experimental Reproductive Medicine
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• v.10 no.2
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• pp.25-37
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• 1983

As the cytogenetic developed, cytogenetic study has also developed progressively. This study is a systematical cytogenetic and clinico-hormonal analysis of 20 cases Wp.ere gonadal dysgenesis was diagnosed and deferred to the Dept. of obstetrics and Gynecology, Yonsei University, Medical School from Jan. 1974 to Aug. 1983. Twenty patients with the diagnosis of gonada dysgenesis have been assesed as to possible correlations between clinical, homonal and cytogenic findings. The desults were as follows; l. Gonadal dysgenesis were found in 20 cases, consisting of 15 cases (75%) of turnurs syndrome, 4 case of pure gonadal dysgenesis (20%), 46. XX and 1 case of mixed gonadal dysgenesis, 45,XO/46,XY. 2. Patients with XO karyotype, turner's ryndorme, have a resonably constant clinical picture of sexual infantilism with streak gonads, short status and webbed neck. 3. 17 cases were found primary amenorhea and two cases were noted with 2 ndary amenorrhea. one case has been presented with menstruation. 4. The rudimentary streak gonads were found in 7 cases of 8 cases and one case has a rudimentary streak gonad on one side and a testis on the contralateral side. 5. The study showed that potients with gonadal dysgenesis had an average of about 4-8 times higher basal FSH and about 3-7 times higher basal LH than that of the early follicular phase of normal menstrual cycle. 6. Two cases of three gonadal dysgenesis patieats, who performed LH-RH challage test, showed that the serum FSH levels reached the maximal level at 30 min after injection of CHRH and the serum LH level reached the maximal level at 60 min ofter injection of LHRH one case showed no significant response to LH-RH injection. Thus, bu studying simultoneously the clinical, cytogenic, hormonal aspects and visualization of gonads, we have gained some practical insight into the requirements for proper disgnosis and treatment.

• Clinical and Experimental Reproductive Medicine
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• v.13 no.2
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• pp.145-151
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• 1986

The purpose of this study is to investigate the cytogenetic characteristics of Down's syndrome in Korea. For this study, selected were 92 patients who were diagnosed as Down's syndrome by the chromosomal analyses, among 115 patients who were supected of Down's syndrome and referred to the Cytogenetic Laboratory, Institute of Reproductive Medicine and Population, Seoul National University, for 2 years from January 1984 to December 1985. Among 92 patients with Down's syndrome 83 (90.2%) had G-trisomy, 4 (4.3%) had translocation, and 2 (2.2%) had mosaicism of normal and G-trisomic cell lines. Two patients of the remaining 3 had both G-trisomic and translocation, 47, XX, t (1:21) (p32:q22), +21, 47, XX, t (9:11) (q34:q14), +21. The remaining 1 patient had 47, XY, +mar.

• Clinical and Experimental Reproductive Medicine
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• v.26 no.3
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• pp.467-474
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• 1999

Objectives: Cytogenetic investigations were carried out on 770 women with primary (n=560) and secondary amenorrhea (n=210) to determine the frequency of chromosomal or genetic causes of amenorrhea. Materials and Methods: In 770 women with primary amenorrhea (n=560) and secondary amenorrhea (n=210), chromosomal analysis were performed. Results: 1) The most prevalent age group is 16-20 years of age group with primary amenorrhea and 26-30 years of age group with secondary amenorrhea. 2) Out of 560 cases of primary amenorrhea, 343 cases (61.3%) had the normal chromosome constitution and 217 cases (38.7%) had the abnormal chromosome constitution including 46,XY. 3) In 217 cases of abnormal chromosome of primary amenorrhea, 57 cases (26.3%) had 45,X and 34 cases (15.8%) had the 46,XY, 24 cases (11.0%) had 45,X/46,X,i (Xq), 23 cases (10.6%) had 45,X/46,X,+mar and 14 cases (6.6%) had 45,X/46,XY. 4) Out of 210 cases of secondary amenorrhea, 181 cases (86.2%) had the normal chromosome constitution and 29 cases (13.8%) had the abnormal chromosome. 5) In 29 cases of abnormal chromosome of secondary amenorrhea, 7 cases (24.1%) had 45,X/46, X,i (Xq), 4 cases (13.8%) had 45,X/46,XX. Conclusion: High percentage of chromosomal abnormalities was diagnosed in primary amenorrhea and most of them were sex chromosome anomalies. In secondary amenorrhea, the prevalence was lower than primary amenorrhea, so a preselection of patients with secondary amenorrhea for cytogenetic investigations seems to be necessary.

• 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.

• Biomedical Science Letters
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• v.17 no.2
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• pp.129-134
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• 2011

Mosaicism is the presence of two or more chromosomally distinct cell lines, each seen in two or more cells. Chromosomal mosaicism presents one of the most difficult problems in prenatal cytogenetic diagnosis, requiring the differentiation of true mosaicism from pseudomosaicism. To overcome associated problems we investigated 24 cases (amniotic fluid 13 cases, abortus tissue 3 cases, peripheral blood 8 cases) in which mosaicism has been found in cytogenetic analysis. 5 cases (38.5%) of 13 amniotic fluid cells in which mosaicisms showed single cell pseudomosaicism. Chromosomal true mosaicism is found in about 0.28% (8/2,826) of amniotic fluid cell cultures. The 24 cases involved 12 cases (50%) with sex chromosomal abnormalities, 7 cases (29.2%) with autosomal structural defects, 3 cases (12.5%) with autosomal abnormalities, 2 cases (8.3%) with a supernumerary marker. Mosaicism detected in amniotic fluid may represent the true mosaicism or may pseudomosaicism. If the same chromosome abnormality is seen in more than one cell and in two different cultures, it is considered a true mosaicism, whereas single-cell abnormalities from a single culture are regarded as pseudomosaicism. In this study, we describe a mosaicism in chromosome analysis, its diagnostic problems and clinical significance.

• Molecules and Cells
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• v.26 no.3
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• pp.319-322
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• 2008

Little is known about the chromosomal variability and polymorphism existing in mitotic chromosomes of Citrus, mainly due to lack of reliable chromosomal markers and small chromosome size. To test the hypothesis of chromosomal polymorphism and provide the foundation of the genome organization in the Citrus cultivars, we have developed molecular cytogenetic markers for 13 Citrus species collected from Jeju island, Korea. In this study, we demonstrated that the chromosomal locations of cytogenetic markers are quite variable and extremely polymorphic, in contrast to the previous studies. The data obtained in this study will be of utmost importance in cytological systematics and karyotyping of the Citrus species.

• Clinical and Experimental Reproductive Medicine
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• v.12 no.2
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• pp.59-64
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• 1985

This investigation represents a cytogenetic study of 382 women with primary amenorrhea. 235 cases (61.5%) showed normal karyotype, 46, XX and l47 cases (38.5%) showed chromosomal abnormalities. Of 144 females with cytogenetic abnormalities, 44 cases (30.0%) showed a 45, X constitution: 37 cases (25.2%) with 45, X/46, XX: 3 (2.0%) 45, X/47, XXX: 11 (7.5%) 45, X/46, XX/47, XXX: 1 (0.7%) 45, X/46, XY: 3 (2.0%) 46, $XX_{p-}$: 2 (1.4%) 46, $XX_{q-}$: 6 (4.1%) 46, X, i ($X_q$): 1 (0.7%) 45, X/46, $XX_{q+}$: 1 (0.7%) 45, X/46, XX, inv(X): 1 (0.7%) 45, X, inv (9)/47, XXX, inv(9). 36 women (24.5%) had a 46, XY constitution and 1 case (0.7%) had a 47, XXX constitution.

• Clinical and Experimental Reproductive Medicine
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• v.12 no.1
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• pp.99-108
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• 1985

The purpose of this study is to investigate .the cytogenetic characteristics of the Turner's syndrome in Korea. For this study selected were eighty-two patients with Turner's syndrome, who were diagnosed by the chromosomal analyses of the cultured peripheral blood lymphocytes, at the Cytogenetic Laboratory, Institute of Reproductive Medicine and Population, College of Medicine, Seoul National University, for the period of 11 years and 6 months from May 1971 through November 1982. Among the 82 patients with Turner's syndrome, 21 (25.6%) had 45,X karyotype, 57 (69.4%) had mosaicism of 45,X/46,XX (39), 45, X/46, XX/47, XXX (9), 45, X/47, XXX (5), 45, X/46, XY (4). Remaining 4 patients had 46, $XX_{p-}$, 46, $XX_{q-}$and 46,X,i($X_q$), respectively.

• Korean Journal of Environmental Biology
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• v.21 no.4
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• pp.384-391
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• 2003

The induction of chromosome aberrations in Hordeum vulgare germs after irradiation is studied for the dose range of 10 to 1,000 mGy. The relationship between the frequency of aberrant cells and the absorbed dose is shown to be non -linear and has a dose-independent plateau within the range of 56-467 mGy where the level of cytogenetic damage is statistically significantly distinguished from the spontaneous level. The comparison of the goodness of the experimental data fitting with mathematical models of different complexities, using the most common quantitative criteria, demonstrates the benefit of the piecewise linear model over the linear and polynomial ones in approximating the cytogenetical disturbance frequency. The results of our study support the conclusion about indirect mechanism of chromosome aberrations induced by low doses or dose rates mutagenesis.