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1. 이, 형남. Clinical application of chromosomal microarray as a first-tier chromosome aberration test for patients with developmental delay and intellectual disability in Korea.

Degree: 2017, Ajou University

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.

배경: 염색체 마이크로어레이 검사(CMA)는 염색체 전체를 고해상도로 빠르고 정확하게 복제수 변이(CNV)를 조사할 수 있는 세포유전학적 진단 검사법이다. 국제적 가이드라인은 발달 장애, 지적 장애, 자폐 범주성 장애, 선천성 기형 환자들에게 우선적 임상 진단 검사로서 적합한 검사법으로 추천하고 있다. 하지만, 국내에서는 건강 보험법상 임상진단 검사로 사용할 수 없어 CMA 검사가 일반적으로 사용되고 있지는 못한 실정이다. 본 연구에서는 CMA 검사가 발달 장애, 지적장애, 자폐 범주성 장애, 선천성 기형 등의 환자에게 우선적 진단 검사로서의 적 유용성과 한계점에 대해 연구하고자 하였다. 방법: 2012 년 12 월부터 2016 년 7 월 동안 염색체 이상이 의심되었으나 염색체 검사에서는 정상 핵형으로 관찰된 환자 119 명을 대상으로 하였다. 이중 87 명은 신경발달장애(발달지연 70 명, 지적장애 16 명, 자폐증 1 명)이고, 32 명은 발달지연이나 지적장애 증상을 가지고 있는 선천성 기형 환자였다. 환자 중 37 명은 가족 검사가 가능한 총 63 명의 환자가족들에 대해 CMA 검사를 실시하였으며,…

Advisors/Committee Members: 대학원 의학과, 201324375, 이, 형남.

Subjects/Keywords: Chromosomal microarray (CMA); Copy-number variations (CNVs); Congenital anomaly; Developmental delay (DD); Intellectual disability (ID); 염색체 마이크로어레이; 복제수변이; 신경발달장애; 선천성 기형; 발달지연; 지적장애

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APA (6th Edition):

이, . (2017). Clinical application of chromosomal microarray as a first-tier chromosome aberration test for patients with developmental delay and intellectual disability in Korea. (Thesis). Ajou University. Retrieved from http://repository.ajou.ac.kr/handle/201003/16464 ; http://dcoll.ajou.ac.kr:9080/dcollection/jsp/common/DcLoOrgPer.jsp?sItemId=000000024829

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

이, 형남. “Clinical application of chromosomal microarray as a first-tier chromosome aberration test for patients with developmental delay and intellectual disability in Korea.” 2017. Thesis, Ajou University. Accessed October 24, 2020. http://repository.ajou.ac.kr/handle/201003/16464 ; http://dcoll.ajou.ac.kr:9080/dcollection/jsp/common/DcLoOrgPer.jsp?sItemId=000000024829.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

이, 형남. “Clinical application of chromosomal microarray as a first-tier chromosome aberration test for patients with developmental delay and intellectual disability in Korea.” 2017. Web. 24 Oct 2020.

Vancouver:

이 . Clinical application of chromosomal microarray as a first-tier chromosome aberration test for patients with developmental delay and intellectual disability in Korea. [Internet] [Thesis]. Ajou University; 2017. [cited 2020 Oct 24]. Available from: http://repository.ajou.ac.kr/handle/201003/16464 ; http://dcoll.ajou.ac.kr:9080/dcollection/jsp/common/DcLoOrgPer.jsp?sItemId=000000024829.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

이 . Clinical application of chromosomal microarray as a first-tier chromosome aberration test for patients with developmental delay and intellectual disability in Korea. [Thesis]. Ajou University; 2017. Available from: http://repository.ajou.ac.kr/handle/201003/16464 ; http://dcoll.ajou.ac.kr:9080/dcollection/jsp/common/DcLoOrgPer.jsp?sItemId=000000024829

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

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