• Biomedical Science Letters
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• v.15 no.4
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• pp.363-368
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• 2009

One of the frequent occurrences in rearrangements is chromosome inversion. Pericentric inversion is considered to be the variant of normal karyotype. We investigated the karyotypes of 1195 cases being referred to prenatal diagnosis using standard GTG banding for karyotype preparation. The chromosomal analysis revealed a total of 15 (1.26%) inversions. The characteristics of inversion type [(inv(4), inv(8), inv(9), inv(11)) were investigated on the basis of chromosomal analyses of fetuses and their parents. The results from chromosomal examination of the parents, whose fetuses were diagnosed as inversion, show that either parent might be the carrier. Inversion in human chromosome is commonly seen in normal humans and the frequency estimated to be 1 to 2% in general population and the exact amount of this phenomenon is still unclear. These results indicate that inv(8), inv(9), and inv(11) are phenotypically normal. However these may often cause clinical problems in offspring of the carrier, such as fetal wastage repeated spontaneous abortions and infertility with unknown mechanisms related to sex. We describe an inversion of human chromosome and its clinical correlation with human genetic disease.

• Journal of Food Hygiene and Safety
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• v.16 no.2
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• pp.145-151
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• 2001

EpoxidiBed soy bean oil (ESBO) is a plasticizer of PVC which is being widely used as a gaskets for the lid of glass jars including baby food. Using reverse mutation assay, chromosome aberration test and micronucleus test, ESBO were evaluated the mutagenicity. In the reverse mutation test, ESBO did not induced mutagenicity in Salmonella typhimurium TA98, TA100, TA1535, TA1537, TA102 with and without metabolic activation. In the chromosome aberration test using CHL cells, the results showed no increased structural and numerical aberrations in the concentration of sample producing cytotoxicity with and without metabolic activation. The in vivo induction of micronuclei was measured in polychromatic erythrocytes of bone marrow of young (3weeks old) and adult (6 weeks old) ddY mice of both sex. At 24 hours after treatment with ESBO 20, 10, 5, 2.5 g/B.W. kg/corn oil 10 ml by oral route animals were sacrificed and bone marrow cells were prepared for smear slides. The results showed no increased micronucleated polychromatic erythrocytes regardless of sex and age. It was concluded that water soluble ESBO did not show certain genotoxicity within our studies conducted.

• Journal of Preventive Medicine and Public Health
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• v.31 no.4 s.63
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• pp.616-627
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• 1998

In order to evaluate the cytogenetic hazard among hospital workers potentially exposed to low dose of radiation, the analysis of chromosome aberrations(CA) and sister chromatid exchanges(SCE) in lymphocytes were performed in 79 hospital workers and 79 non-exposed workers. The mean frequency of chromosomal exchange and deletion(respectively, $0.20\times10^{-2}/cell\;and\;0.39\times10^{-2}/cell$) in the exposed group were significantly higher than those$(0.07\times10^{-2}/cell\;and\;0.23\times10^{-2}/cell)$ in control group. The frequency of sister chromatid exchanges was 5.04/cell in the control vs. 6.57/cell in the exposed group. There were also significant differences in the mean frequencies of CA and SCE adjusted for age, sex, smoking, drinking between two groups. There were no evidence of significant increase of CA and SCE according to the department or duration of employment. But the frequency of cells having chromosome aberration was significantly higher in the exposed group than in the control group related to duration of employment. There was no dose-effect relationship between the cumulative doses and the frequency of CA and SCE. But in the case of last 1 yr cumulative dose, there were evidence of significant dose-dependant increase of chromosome type CA and percentage of cells with aberration. The result suggest that there is cytogenetic hazard in risk group like hospital workers handling low dose radiation. And the analysis CA and SCE are useful biological indicators for the exposure of low dose level of radiation.

• Journal of Genetic Medicine
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• v.9 no.1
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• pp.17-21
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• 2012

Purpose: The aim of this study was to analyze parental decisions regarding pregnancies in which the fetus had sex chromosome abnormalities (SCA) over a ten-year period. Materials and Methods: We collected and reviewed records from our hospital for 2001-2010 and a genetic specialist provided-genetic counseling. Results: We diagnosed 130 cases (0.71%) with SCA out of 18,376 prenatal cases from 2001 to 2010. We reviewed the records and the results of all pregnancies. We also included cases (n=84) of apparently normal anatomic fetuses to analyze the factors influencing parental decisions. We excluded 34 cases with an obvious anomaly or a presumably bad outcome and 12 cases that were not followed up. Forty-three couples (51.2%) continued their pregnancies while forty-one (48.8%) terminated them. Of 38 mosaicism cases, 21 (55.3%) were continued. Among the 20 pregnancies assisted by reproductive techniques, 15 (75%) were continued (P=0.02). More pregnancies were continued when genetic counseling was provided (61.9%) compared to cases in which it was not provided (19%) (P=0.01). Conclusion: Genetic counseling is important in providing appropriate information to parents. Establishing guidelines and protocols will help both obstetricians and parents to make informed decisions.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.16
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• pp.7129-7138
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• 2015

Background: The polycystic ovary syndrome (PCOS), characterized by hyperandrogenism and chronic anovulation, is a common endocrine disorder in women. PCOS, which is associated with polycystic ovaries, hirsutism, obesity and insulin resistance, is a leading cause of female infertility. In this condition there is an imbalance in female sex hormones. All the sequelae symptoms of PCOS gradually lead to cancer in the course of time. It is heterogeneous disorder of unknown etiology so it is essential to find the exact cause. Materials and Methods: In this study both invasive and non-invasive techniques were employed to establish the etiology. Diagnosis was based on Rotterdam criteria (hyperandrogenism, ovulatory dysfunction, PCOM) and multiparameters using buccal samples and dermatoglypic analysis and cytogenetic study for 10 cases and four age and sex matched controls. Results: In clinical analysis we have observed the mean value of total testosterone level was 23.6nmol/L, total hirsutism score was from 12-24, facial acne was found in in 70% patients with 7-12 subcapsular follicular cysts, each measuring 2-8 mm in diameter. In dermatoglypic analysis we observed increases in mean value ($45.9^{\circ}$) of ATD angle when compared with control group and also found increased frequency (38%) of Ulnar loops on both fingers (UU), (18%) whorls on the right finger and Ulnar loop on left finger (WU) and (16%) arches on right and left fingers (AA) were observed in PCOS patients when compared with control subjects. Features which could be applied as markers for PCOS patients are the presence of Ulnar loops in middle and little fingers of right and left hand. The buccal micronucleus cytome assay in exfoliated buccal cells, we found decrease in frequency of micronuclei and significant increases in frequency of karyolysed nuclei in polycystic ovarian syndrome patients. Chromosome aberration analysis revealed a significant increase in frequency of chromosome aberrations (CAs) in PCOS patients when compared with controls. Conclusions: From this present work it can be concluded that non-invasive technique like dermatoglypics analysis and buccal micronucleus cytome assays with exfoliated buccal cell can also be effective biomarkers for PCOS, along with increased CAs in lymphocytes as a sign of genetic instability. There is a hypothesis that micronuclei and chromosomal aberrations could have a predictive value for cancer. From this present work it can be concluded to some extent that non-invasive technique like dermatoglypics and buccal cell analysis can also be effective for diagnosis.

• Clinical and Experimental Reproductive Medicine
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• v.29 no.4
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• pp.269-278
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• 2002

Objective s: Chromosome aneuploidy is associated with recurrent abortion and congenital anomaly and genetic diseases occur repeatedly in the specific families. Preimplantation genetic diagnosis (PGD) can prevent aneuploidy or genetic disease by selecting normal embryos before implantation and is an alternative to prenatal diagnosis. The aim of this study is to assess the outcome of PGD cycles by using FISH or PCR, and to determine the clinical usefulness and values in patients with risk of chromosomal aneuploidy or genetic disease. Materials and Methods: From 1995 to Apr. 2001, a total of 108 PGD cycles in 65 patients with poor reproductive outcome were analyzed. The indications of PGD were translocation (n=49), inversion (n=2), aneuploidy screening (n=7), Duchenne muscular dystrophy (n=5) and spinal muscular atrophy (n=2). PGD was applied due to the history of recurrent abortion, previous birth of affected child or risk of aneuploidy related to sex chromosome aneuploidy or old age. Blastomere biopsy was performed in 6$\sim$10 cell stage embryo after IVF with ICSI. In the single blastomere, chromosome aneuploidy was diagnosed by using FISH and PCR was performed for the diagnosis of exon deletion in DMD or SMA. Results: The FISH or PCR amplification was successful in 94.3% of biopsied blastomeres. The rate of transferable balanced emb ryos was 24.0% in the chromosome translocation and inversion, 57.1% for the DMD and SMA, and 28.8% for the aneuploidy screening. Overall hCG positive rate per transfer was 17.8% (18/101) and clinical pregnancy rate was 13.9% (14/101) (11 term pregnancy, 3 abortion, and 4 biochemical pregnancy). The clinical pregnancy rate of translocation and inversion was 12.9% (11/85) and abortion rate was 27.3% (3/11). In the DMD and SMA, the clinical pregnancy rate was 33.3% (3/9) and all delivered at term. The PGD results were confirmed by amniocentesis and were correct. When the embryos developed to compaction or morula, the pregnancy rate was higher (32%) than that of the cases without compaction (7.2%, p<0.01). Conclusions: PGD by using FISH or PCR is useful to get n ormal pregnancy by reducing spontaneous abortion associated with chromosome aneuploidy in the patients with structural chromosome aberration or risk of aneuploidy and can prevent genetic disease prior to implantation.

• Clinical and Experimental Pediatrics
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• v.50 no.9
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• pp.875-881
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• 2007

Purpose : Chromosome analysis is important in genetic study and genetic counseling. This study was performed to evaluate the type and incidence of chromosome abnormalities in a single hospital for 25 years. Methods : Chromosome analyses were performed on peripheral blood lymphocytes, obtained from 4,856 patients with suspected chromosomal aberrations, referred to cytogenetic laboratory in Department of Pediatrics, Kyungpook National University Hospital from May 1981 to October 2005. Results : We analyzed 4,567 cases. Children were 3,014 cases (66.0%) and adult were 1,553 cases (34.0 %). The most common purpose of the chromosomal analysis was growth and developmental abnormality in children and infertility in adults. Total chromosomal aberration rate was 16.9% (770/4,567). Among those cases, the numerical abnormalities were 12.2% (558 cases), the structural abnormalities were 4.1% (187 cases), and others were 0.5% (25 cases). The relative frequencies of autosomal abnormalities were 6.4% (294 cases) in Down syndrome; 0.2% (7 cases) in Edwards syndrome; 0.1% (4 cases) in Patau syndrome; 0.2% (10 cases) in other abnormalities, of sex chromosome, 2.9% (131 cases) in Klinefelter syndrome; 2.2% (99 cases) in Turner syndrome; 0.2% (8 cases) in 47, XXX; 0.1% (3 cases) in 47, XYY. Among the structural abnormalities, translocation was 1.8% (84 cases), inversion was 0.8% (37 cases), deletion was 0.4% (17 cases), and insertion was 0.3% (13 cases), in order of frequency. Conclusion : In this study, the type, incidence and distribution of cytogenetic abnormalities by karyotype were reviewed. We hope that our study could be used as a basic information on the diagnosis, treatment and genetic counseling for chromosome abnormalities in Korea.