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손정옥 ( Jeong Ock Son ),이화운 ( Hwa Woon Lee ),이순환 ( Soon Hwan Lee ) 한국환경과학회 2012 한국환경과학회지 Vol.21 No.2
In order to clarify the impacts of thermal difference in atmospheric boundary layer due to the different sophistication of building information in Busan metropolitan areas, several numerical simulations were carried out. ACM (Albedo Calculation Model) and WRF (Weather Research and Forecasting) was applied for estimating albedo and meteorological elements in urban area, respectively. In comparison with coarse aggregated and small buildings, diurnal variation of albedo is highly frequent and its total value tend to be smaller in densely aggregated and tall buildings. Estimated TKE and sensible heat flux with sophisticatedly urban building parameterization is more resonable and valid values are mainly induced by urban building sophistication. The simulation results suggest that decreased albedo and increased roughness due to skyscraper plays an important role in the result of thermal change in atmospheric boundary layer.
세포유전검사와 형광동소보합법에 의한 Yq 결실의 산전 진단
박인양 ( In Yang Park ),천소희 ( So Hee Cheon ),김명신 ( Myung Shin Kim ),손정옥 ( Jung Ok Son ),이영 ( Young Lee ),신종철 ( Jong Chul Shin ),김창이 ( Chang Yi Kim ) 대한주산의학회 2004 Perinatology Vol.15 No.4
목적 : 산전 염색체 검사상 표지염색체가 관찰되는 경우 정확한 진단을 위한 지침이 설정되어 있지 않다. 본 연구를 통해 표지염색체의 기원을 알기 위한 순차적인 진단적 접근 방법을 제안하고자 한다. 방법 : 월경주기와 임신 첫 삼분기 초음파 검사상 제태연령 19주인 태아로 모체혈청삼중표지자 검사 소견상 다운 증후군 고위험군 소견을 보여 양수 염색체 검사를 시행하였다. NOR banding을 시행하고, chromosome X α satellite probe (DXZI) & chromosome Y α satellite probe (DYZ3) (Cy-tocell, Bambury, UK)와 CEP X/Y (Xp11.1-q11.1 CEP X α satellite & Yq12 CEP Y satellite III)(Vysis, IL, USA) 두 종류의 성염색체 표지자를 이용하여 형광동소보합법을 시행하였다. 결과 : 염색체 검사 결과 46,X,+mar 소견을 보였다. NOR banding에서 표지염색체는 염색되지 않아 그 기원이 끝곁매듭염색체일 가능성이 적은 것으로 생각되었다. 형광동소보합법 결과 표지염색체에 Y 중심절 signal이 관찰되었고 Yq12 signal은 관찰되지 않아 Yq11.2 부분부터 결실이 있음을 알 수 있었다. 결론 : 색체 검사 시 표지염색체가 관찰되는 경우 NOR banding과 FISH를 이용한 순차적 검사가 보다 효과적 진단 방법으로 생각된다. Objective : The accurate evaluation of a marker chromosome has been limited during prenatal karyo-typing. We proposed a method of step-by-step approach to evaluate the origin of a marker chromosome. Methods : A patient with 19 weeks of gestation was transferred to our hospital for karyotyping due to abnormal Triple test. Karyotyping of amniotic fluid was performed. NOR (nucleolar organizer region) banding and FISH (fluorescence in situ hybridization) using two types of sex chromosome probes: chromosome X α satellite probe (DXZI) & chromosome Y α satellite probe (DYZ3)(Cytocell, Bambury, UK) and CEP X/Y (Xp11.1-q11.1 CEP X α satellite & Yq12 CEP Y satellite III)(Vysis, IL, USA) were done. Results : The routine chromosomal analysis showed 46,X,+mar. As the result of NOR banding, we supposed that the marker chromosome was less likely originated from acrocentric chromosomes. FISH analysis revealed Y centromere signal on marker chromosome, but Yq12 signal was not detected. Therefore the marker chromosome was identified as Y chromosome formed by deletion at Yq11.2. Conclusion : This study demonstrated that FISH and NOR banding technique is more effective method for a marker chromosome evaluation during prenatal karyotyping.
장우리,김용구,한은희,박준홍,채효진,권아름,최하영,김지연,손정옥,이상지,홍보영,장대현,한지윤,이정현,김소영,이인구,성인경,문연숙,김명신,박주현 대한진단검사의학회 2019 Annals of Laboratory Medicine Vol.39 No.3
Background: To validate the clinical application of chromosomal microarray analysis (CMA) as a first-tier clinical diagnostic test and to determine the impact of CMA results on patient clinical management, we conducted a multicenter prospective study in Korean patients diagnosed as having developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), and multiple congenital anomalies (MCA). Methods: We performed both CMA and G-banding cytogenetics as the first-tier tests in 617 patients. To determine whether the CMA results directly influenced treatment recommendations, the referring clinicians were asked to complete a 39-item questionnaire for each patient separately after receiving the CMA results. Results: A total of 122 patients (19.8%) had abnormal CMA results, with either pathogenic variants (N=65) or variants of possible significance (VPS, N=57). Thirty-five well-known diseases were detected: 16p11.2 microdeletion syndrome was the most common, followed by Prader–Willi syndrome, 15q11-q13 duplication, Down syndrome, and Duchenne muscular dystrophy. Variants of unknown significance (VUS) were discovered in 51 patients (8.3%). VUS of genes putatively associated with developmental disorders were found in five patients: IMMP2L deletion, PTCH1 duplication, and ATRNL1 deletion. CMA results influenced clinical management, such as imaging studies, specialist referral, and laboratory testing in 71.4% of patients overall, and in 86.0%, 83.3%, 75.0%, and 67.3% of patients with VPS, pathogenic variants, VUS, and benign variants, respectively. Conclusions: Clinical application of CMA as a first-tier test improves diagnostic yields and the quality of clinical management in patients with DD/ID, ASD, and MCA.