• 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.

• Korean Journal of Ichthyology
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• v.33 no.1
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• pp.37-42
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• 2021

This study sought to reveal spawning period and sex inversion of black seabream, Acanthopagrus schlegelii collected off the coast of Tongyeong, Korea. The monthly gonodosomatic index (GSI) showed the same pattern of between both sexes, and it was estimated that black seabream spawned once a year (between April and May). Histological examination revealed the transition from male to female sex, size of fork length bisexual gonad with ovarian (primary hermaphrodite; progress from male to female, MF) was seen at 20.5 to 39.6 cm and bisexual gonad with testicular (post hermaphrodite; female development and Male degeneration, FM) was seen at 26.4 to 50.2 cm. The egg diameters was in the range of 0.02 to 0.60 mm, with the smallest average egg diameter of 0.09 mm in February, the highest average egg diameters of 0.43 mm in August, and the range of fecundity was number of eggs 277,148 (33.9 cm) to 2,772,421 (34.1 cm).

• Journal of Aquaculture
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• v.11 no.2
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• pp.173-182
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• 1998

The study has been conducted to understand gonadal development and the effects of $17^{\alpha}$-methyltestosterone on sex inversion of the red spotted grouper, Epinephelus akaara. Fish were collected from Deukyand bay in the southern coast of Korea in August, 1996 and then they had been cultivated at the indoor tank until August, 1997. Gonad somatic index (GSI) in the females of both treated and control group began to increase from February when water temperature was rainse again, and reached the maximum value in August, whereas it had decreased from September adn thereafter maintained relatively low value until January. Unlike females, GSI in the male or intersex of treated groups decreased after June. Hepatosomatic index (HSI) of the control group tended to show the relatively low around Autumn, whereas it showed relatively highr value in April and June when the ovary was in the growing stage. Although the treated groups showed relatively higher value of the HSI than the control, hte paterns in monthly variation of HSI were similar to the control. Sexual change of the female grouper to the male was attempted by acceleration with oral administration of $17^{\alpha}$-methyltestosterone at the dose of 0.2 and 0.5mg/kg fish for 120days. Transitional hermaphroditic gonads were observed from the various size of groupers ranging 21.0 to 36.1 cm in total length, while the functional males could be induced from th individuals of 28.8 to 33.5cm in total length. This result indicated that larger groupers than 30cm in total length should be used for sex inversion to maleness with $17^{\alpha}$-methyltestosterone.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.12 no.1
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• pp.71-78
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• 2001

Objectives：Few studies have examined the psychiatric properties or child developmental problems associated with inversion of chromosome 9. The purpose of this study is to examine the psychiatric properties of child patients who have inversion of chromosome 9, focused on behavioral problems and child developmental problems like motor or language developmental delay, intellectual impairment, and growth retardation. Methods：1) The authors examined the cases referred for cytogenetic examination from 1984 to 2000 at Seoul National University Hospital in Korea. The cases with the examination result of inversion of chromosome 9 were collected and informations about the departments which referred and the main reasons for referral were also checked. 2) 12 child subjects with inversion of chromosome 9 and their parents underwent psychiatric interview and parent questionnaire(child and adolescent past history questionnare, CBCL). 45 normal students whose sex and age were matched to patients were selected as a control group. Results：1) There were 165 cases of inversion of chromosome 9. The major departments which referred were Obstetrics and Gynecology(47.3%), Pediatrics(23.6%) and Child and Adolescent Psychiatry(17.0%). The major reasons for referral from the Pediatrics and the Child and Adolescent Psychiatry department (67 cases total) were intellectual impairment(35.8%), language or motor developmental delay(31.3%), suspected Fragile X syndrome(23.9%), and growth retardation(20.9%). 2) Compared to normal control group, the rate to be included in the clinical range with regard to the social problems profile was higher in patient group according to the CBCL results. The patient group had language and motor developmental delay. Conclusion：There is a possibility of inversion of chromosome 9 to be associated with child developmental problems or behavioral problems. This study is the first approach to evaluate the developmental aspects associated with inversion of chromosome 9.

• The International Journal of Costume Culture
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• v.3 no.1
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• pp.21-29
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• 2000

The purpose of this study was to analyze the 21C Fashion's expression related to 'Verfremdung' theory, in aesthetic theories established after modern times, and then to examine a new meaning and value. The expressions of 'Verfremdung(estrangement)' in modern fashion, appear the followings: 1) placing distance with traditional sex and rational beauty of body. 2) paradox of inversion, 3) illogical juxtapositions by encounter. 4) dismantlement of material concept etc. After showing practically production technique that breaks traditional exception, that is, a new design method of open concept which drives positive idea about discrepancy of realities. This trial has warning abut art's self-control occurring at the time when aesthetic disinterestedness theory is expanded, and is considered indictment about a inhuman property of modern civilization and culture, and is considered expression of will to show alienation by it.

• Journal of Genetic Medicine
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• v.7 no.1
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• pp.1-8
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• 2010

Hemophilia A is a sex-linked recessive coagulation disorder associated with diverse mutations of the factor VIII gene and a variety of phenotypes. The type of mutation involved dictates the activity of factor VIII, and in turn the severity of bleeding episodes and development of alloantibodies against factor VIII (inhibitors). Missense mutations are the most common genetic risk factors for hemophilia A, especially mild to moderate cases, but carry the lowest risk for inhibitor development. On the other hand, intron 22 inversion is the most common mutation associated with severe hemophilia A and is associated with high risk of inhibitor formation. Large deletions and nonsense mutations are also associated with high risk of inhibitor development. Additional mutations associated with hemophilia A include frameshift and splice site mutations. It is therefore valuable to assess the mutational backgrounds of hemophilia A patients in order to to interpret their symptoms and manage their health problems.

• 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.

• Investigative Magnetic Resonance Imaging
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• v.23 no.3
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• pp.241-250
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• 2019

Purpose: The purpose of this study was to determine the relation between quantitative magnetic resonance imaging biomarkers, and clinical performances in chronic phase of carbon monoxide intoxication. Materials and Methods: Eighteen magnetic resonance scans and cognitive evaluations were performed, on patients with carbon monoxide intoxication in chronic phase. Apparent diffusion coefficient (ADC) ratios of affected versus unaffected centrum semiovale, and corpus callosum were obtained. Signal intensity (SI) ratios between affected centrum semiovale, and normal pons in T2-FLAIR (fluid-attenuated inversion recovery) images were obtained. The Mini-Mental State Exam, and clinical outcome scores were assessed. Correlation coefficients were calculated, between MRI and clinical markers. Patients were further classified into poor-outcome and good-outcome groups based on clinical performance, and imaging parameters were compared. T2-SI ratio of centrum semiovale was compared, with that of 18 sex-matched and age-matched controls. Results: T2-SI ratio of centrum semiovale was significantly higher in the poor-outcome group, than that in the good-outcome group and was strongly inversely correlated, with results from the Mini-Mental State Exam. ADC ratios of centrum semiovale were significantly lower in the poor outcome group than in the good outcome group, and were moderately correlated with the Mini-Mental State Exam score. Conclusion: A higher T2-SI and a lower ratio of ADC values in the centrum semiovale, may indicate presence of more severe white matter injury and clinical impairment. T2-SI ratio and ADC values in the centrum semiovale, are useful quantitative imaging biomarkers for correlation with clinical performance in individuals with carbon monoxide intoxication.

• 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.

• Journal of Korean Foot and Ankle Society
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• v.24 no.2
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• pp.87-93
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• 2020

Purpose: This study evaluated the clinical results of surgical treatment with minimally invasive plate osteosynthesis for treating displaced intra-articular fractures of the calcaneus in comparison with conventional lateral extensile approach plate osteosynthesis. Materials and Methods: Of 79 cases of Sanders type II or III calcaneus fractures, 15 cases treated with the minimally invasive calcaneal plate (group M) and 64 cases treated with lateral extensile approach calcaneal plate (group E) were identified. After successful propensity score matching considering age, sex, diabetes mellitus history, and Sanders type (1:3 ratio), 15 cases (group M) and 45 cases (group E) were matched and the demographic, radiologic, and clinical outcomes were compared between the two groups. Results: The median time of surgery from injury was 2.0 days in group M and 6.0 days in group E (p=0.014). At the six months follow-up, group M showed results comparable with those of group E in radiographic outcomes. In the clinical outcomes, group M showed better postoperative American Orthopaedic Foot and Ankle Society (AOFAS) and visual analogue scale (VAS) scores than did group E (p=0.001, p=0.008). A greater range of subtalar motion was achieved at the six months follow-up in group M (inversion 20.0° vs. 10.0°, p=0.002; eversion 10.0° vs. 5.0°, p=0.025). Although there were no significant differences in complications between the two groups (1 [6.7%] vs. 7 [15.6%], group M vs. group E; p=0.661), there was only one sural nerve injury and no wound dehiscence and deep infection in group M. Conclusion: Minimally invasive plate osteosynthesis showed superior clinical outcomes compared with that of the conventional lateral extensile approach plate osteosynthesis in Sanders type II or III calcaneus fractures. We suggest applying minimally invasive plate osteosynthesis in Sanders type II or III calcaneus fractures.