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국내 발달지연과 정신지체 환자에 대한 우선적 검사로서 염색체 마이크로에레이의 임상적 적용에 대한 연구
| DC Field | Value | Language |
|---|---|---|
| dc.contributor.advisor | 김현주, 정선용 | - |
| dc.contributor.author | 이형남 | - |
| dc.date.accessioned | 2019-10-21T07:28:59Z | - |
| dc.date.available | 2019-10-21T07:28:59Z | - |
| dc.date.issued | 2017-02 | - |
| dc.identifier.other | 24829 | - |
| dc.identifier.uri | https://dspace.ajou.ac.kr/handle/2018.oak/18958 | - |
| dc.description | 학위논문(석사)--아주대학교 일반대학원 :의학과,2017. 2 | - |
| dc.description.tableofcontents | Abstract i Table of Contents iii List of Figures iv List of Tables iv I.Introduction 1 II.Method A.Patients 3 B.CMA and analysis of chromosomal aberrations 4 III.Result A.CMA of patients 6 1.Pathogenic CNVs in neurodevelopmetal disorder patients 7 2.Pathogenic CNVs in congenital anomaly patients 11 B.CMA of patients’ family members 12 C.Chromosomal distribution of pathogenic CNVs 15 IV.Discussion 16 References 22 국문요약 27 |List of Figures Figure 1. Flow diagram of CMA test with patients and patients’ familymembers 3 Figure 2. Distribution of pathogenic CNVs onchromosomes 15|List of Tables Table 1. The results of CMA patients 6 Table 2. Summary of pathogenic CNVs data for patients 8 Table 3. The results of CMA in patients’ family members 13 Table 4. Comparison of CMA and chromosomal genetic tests 14 Table 5. Comparison of CMA within family group and chromosomal genetic tests 17 Table 6. Comparison of recent chromosomal microarray detection rate in korea 18 | - |
| dc.language.iso | eng | - |
| dc.publisher | The Graduate School, Ajou University | - |
| dc.rights | 아주대학교 논문은 저작권에 의해 보호받습니다. | - |
| dc.title | 국내 발달지연과 정신지체 환자에 대한 우선적 검사로서 염색체 마이크로에레이의 임상적 적용에 대한 연구 | - |
| dc.title.alternative | Hyoungnam Lee | - |
| dc.type | Thesis | - |
| dc.contributor.affiliation | 아주대학교 일반대학원 | - |
| dc.contributor.alternativeName | Hyoungnam Lee | - |
| dc.contributor.department | 일반대학원 의학과 | - |
| dc.date.awarded | 2017. 2 | - |
| dc.description.degree | Master | - |
| dc.identifier.localId | 770330 | - |
| dc.identifier.url | http://dcoll.ajou.ac.kr:9080/dcollection/jsp/common/DcLoOrgPer.jsp?sItemId=000000024829 | - |
| dc.subject.keyword | chromosomal microarray (CMA) | - |
| dc.subject.keyword | copy-number variations (CNVs) | - |
| dc.subject.keyword | congenital anomaly | - |
| dc.subject.keyword | developmental delay (DD) | - |
| dc.subject.keyword | intellectual disability (ID) | - |
| dc.description.alternativeAbstract | Background: Chromosomal microarray (CMA) is a cytogenetic diagnostic test for chromosomal abnormalities in many diseases, which can provide the fast and accurate detection of copy-number variations (CNVs). International guidelines recommend specific approaches for the use of CMA as a first-tier clinical diagnostic test for patients with developmental disabilities or congenital anomalies. However, CMA is not used as a general diagnostic test in Korea because Korea’s insurance laws do not allow the use of CMA as a clinical diagnostic method. In this study, I aimed to investigate the clinical utility and limitations of CMA as a first-tier chromosome aberration test for patients with developmental delay (DD), intellectual disability (ID), and autism spectrum disorders (ASD) in Korea. Methods: Eighty-seven patients with neurodevelopmental disorders (16 ID, 70 DD and one ASD) and 32 patients with both congenital anomalies and symptoms of ID or DD revealed normal conventional G-banded karyotypes and were therefore referred by a clinical geneticist for further chromosomal analysis from December 2012 to July 2016. CMA was performed in a single clinical laboratory on a total of 182 samples from 119 patients and 63 family members of 37 patients. The clinical significance of CNVs and clinical features of patients and family members were studied. Results: The CMA results of 119 patients revealed 36 pathogenic CNVs (30.3%), 11 CNVs of variants of uncertain clinical significance (VOUS) (7.6%), 24 benign CNVs (17.6%), and no abnormalities in 53 patients (44.5%). Among the 63 family members of 37 patients, the CMA results revealed five pathogenic CNVs (8%), five VOUS (8%), 12 benign CNVs (19%), and no abnormalities in 41 cases (65%). In the 11 family members with abnormal phenotypes, the CMA results revealed five pathogenic CNVs (45.5%), two VOUS (18.2%), one benign CNV (9.1%), and three normal results (27.3%). The detection rate for pathogenic CNVs was 30.3% (36/119), which is higher than the average detection rate of previous reports. Conclusions: In this study, pathogenic CNVs were detected in 36 patients (30.3%) and it was demonstrated that CMA is a very powerful tool with clinical diagnostic utility for patients with DD, ID, ASD, and congenital anomalies. However, there was a limitation of CMA results with VOUS for interpretation for nine patients (7.6%). The significance of VOUS can be improved by further testing through a familial studies and exome sequencing. | - |
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