• Journal of Genetic Medicine
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• v.7 no.2
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• pp.111-118
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• 2010

Chromosomal microarray analysis (CMA) enables the genome-wide detection of submicroscopic chromosomal imbalances with greater precision and accuracy. In most other countries, CMA is now a commonly used clinical diagnostic test, replacing conventional cytogenetics or targeted detection such as FISH or PCR-based methods. Recently, some consensus statements have proposed utilization of CMA as a first-line test in patients with multiple congenital anomalies not specific to a well-delineated genetic syndrome, developmental delay/intellectual disability, or autism spectrum disorders. CMA can be used as an adjunct to conventional cytogenetics to identify chromosomal abnormalities observed in G-banding analysis in constitutional or acquired cases, leading to a more accurate and comprehensive assessment of chromosomal aberrations. Although CMA has distinct advantages, there are several limitations, including its inability to detect balanced chromosomal rearrangements and low-level mosaicism, its interpretation of copy number variants of uncertain clinical significance, and significantly higher costs. For these reasons, CMA is not currently a replacement for conventional cytogenetics in prenatal diagnosis. In clinical applications of CMA, knowledge and experience based on genetics and cytogenetics are required for data analysis and interpretation, and appropriate follow-up with genetic counseling is recommended.

• Clinical and Experimental Reproductive Medicine
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• v.23 no.1
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• pp.73-79
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• 1996

골수나 유산물질에 대한 세포유전학적 검사에 있어 통상적인 염색체검사는 검사에 적합한 중기핵상을 얻기 어려워 실패하는 경우가 많다. 이러한 경우에 진단이나 치료에 도움을 줄 수 있는 방법으로 유식세포분리기를 사용하여 단일 세포내 DNA량에 따른 aneuploidy를 추적할 수 있는 가를 확인하기 위해 본 실험을 실시하였다. 79 (혈액 30, 골수 37, 유산물 12)예에서 염색체 검사와 유식세포 분리검사를 동시에 실시하여 각각의 결과를 비교한 결과 79.7% (63/79)의 일치율을 얻었다. 그러나 염색체의 손실이 없는 전좌와 역위의 경우는 물론 작은 조각의 염색체 부분이 늘어나거나 줄어든 경우에 있어서는 유식세포분리방법에 의해서 추적되지 못하였지만, 염색체 검사의 결과를 얻는데 실패한 경우에는 유식세포분리방법이 DNA량의 변화에 대한 정보를 얻을 수 있다는 것을 확인할 수 있었다. 따라서 본 연구결과는 세포유전학적 검사에서 유식세포분리방법이 염색체 검사보다 신속하며 염색체검사가 불가능한 시료에서도 DNA양에 따른 aneuploidy의 추적이 가능하다는 것을 시사한다.

• 대한방사선방어학회:학술대회논문집
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• 2009.11a
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• pp.112-113
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• 2009

• The Korean Journal of Nuclear Medicine
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• v.34 no.1
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• pp.74-81
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• 2000

Purpose: The purpose of this study was to develop in vivo dosimetries using both chromosomal aberrations and micronuclei in mice to assess biological effects of radiations. Materials and Methods: Five each mice were irradiated with 0, 1, 2, 3, 4, 5, 10 Gy of Cs-137 gamma-rays. We scored numbers of chromosomal aberrations in metaphase spreads and numbers of micronuclei in bone marrow smears under light microscope, and obtained the dose-response relationships. We also examined the relationship between the two dose-response curves. Results: The frequency of both chromosomal aberrations and micronuclei increased with dose, in a linear-quadratic manner The delta, beta, and alpha coefficients were 0.0176, 0.0324, and 0.0567 for metaphase analysis (r=1.0, p<0.001) and 0.0019, 0.0073, and 0.0506 for micronuclei assay (r=1.0, p<0.001). The frequency of chromosomal aberrations and micronuclei in different radiation doses was significantly correlated (r=0.99, p<0.01). Conclusion: In vivo dosimetry using either metaphase analysis or micronucleus assay was feasible in mice. These methods could be useful to evaluate biological effects of radiation.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.2 no.1
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• pp.66-75
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• 1991

The authors studied chromosomal abnormalities in 38 autistic children meeting the diagnostic criteria of DSM-III-R in order to investigate genere factor in autistic disorder There were 28 males and 10 females, with the mean age being $108.8{\pm}28.5months(70-156months).$ All samples were analyzed on short-term lymphocyre cultures in Medium 199 that contained FUdR. The fragile X chromosome was not found in any of the patients. There were other chromosomal abnormalities in 14(36.8%) of 38 patients, such as breakage, 11cases ; gap, 2case ; breakage and gap, 1 case. In grouping of chromosomal abnormalities, group A patients were 4 cases ; group C were 3 cases ; group A and B was 1 case ; group A and E was 1 case ; group C and E was 1 case ; group A, B and C was 1 case. There were no statistical significance in the 16 symptoms of autistic disorder of DSM-III-R between patients with chromosomal abnormalities and patients without chromosomal abnormalites. These results do not support the hypothesis that fragile X chromosome is an etiological factor in autistic disorder.

• Laboratory Medicine Online
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• v.1 no.2
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• pp.110-114
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• 2011

There have been a few reports of hemophagocytic lymphohistiocytosis (HLH) with chromosomal abnormalities. Clonal chromosomal abnormalities in HLH patients are usually found in association with hematologic malignancies and rarely with epstein-barr virus (EBV) infection. Here, we report a fatal case of HLH with clonal karyotype abnormalities. A 75-yr-old man was admitted with persistent anorexia and high fever. Laboratory data revealed pancytopenia, hypofibrinogenemia, hyperferritinemia, prolonged prothrombin time and activated partial thromboplastin time, and marked elevated level of serum transaminases. In real time-PCR using whole blood, EBV DNA was not detected but cytomegalovirus (CMV) DNA was detected. The bone marrow aspiration smear showed hyperplasia of mature histiocytes with prominent hemophagocytosis. In chromosomal analysis of bone marrow aspirates, complex chromosomal abnormalities were found. In spite of steroid pulse therapy and antibiotic treatment, he died of disseminated intravascular coagulopathy.

• Journal of Genetic Medicine
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• v.4 no.1
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• pp.80-83
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• 2007

A 36-year-old pregnant woman was referred for amniocentesis at 19.5 weeks gestation because of advanced maternal age and evidence of increased risk for Edward syndrome in the maternal serum screening test. Cytogenetic analysis of the cultured amniotic fluid cells revealed mosaicism for ring chromosome 11: 46,XX,r(11)[65]/ 45,XX,-11[16]/ 46,XX [34]. Parental karyotypes were normal. A targeted ultrasound showed intrauterine grow th restriction (IUGR). Cordocentesis was performed to characterize the ring chromosome and to rule out tissue specific mosaicism. Karyotype was confirmed as 46,XX,r(11) (p15.5q24.2)[229]/45,XX,-11[15]. And a few new form of ring w ere detected in this culture. The deletion of subtelomeric regions in the ring chromosome were detected by fluorescent in situ hybridization (FISH). The pregnancy was terminated. The fetal autopsy showed a growth-retarded female fetus with rocker bottom feet. We report a case of prenatally detected a de novo ring chromosome 11.

• Proceedings of the Korean Society of Developmental Biology Conference
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• 2005.10a
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• pp.106-106
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• 2005

• Proceedings of the Korean Society of Embryo Transfer Conference
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• 2005.10a
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• pp.106-106
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• 2005

• Radiation Oncology Journal
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• v.11 no.2
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• pp.233-240
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• 1993

Chromosomal aberration analysis, as a basis for biological radiation dosimetry, was performed for radiation dose ranges below 150 cGy. The yield, ratio of lymphocytes with dicentric and/or ring chromosomes, was 0, 0, 0.4, 0.5, 0.6, 0.8, 1.8, 5.5, 8.0, and $18.5\%$ for 0,5, 10, 15, 20, 25, 50, 75, 100 and 150 cGy, respectively. The Qdr, ratio of dicentric and ring chromosomes in total lymphocytes, was 0, 0, 0.004, 0.005, 0.006, 0.009, 0.018, 0.055, 0.084 and 0.207, respectively. The Qdr, ratio of dicentric and ring chromosomes in lymphocytes with aberration, was 1.0 for the radiation doses up to 75 cGy and 1.05 and 1.11 for 100 and 150 cGy, respectively. From the results, it seems possible to estimate radiation dose from Ydr when the exposure is 25 cGy or more. All the 5 radiation workers studied, with exposure much less than 1 mSv per month, had chromosomal aberrations. And acentric fragment pairs, in addition to dicentric and ring chromosomes, showed good dose response relationship and so may be useful for biological dosimetry for low dose radiation.