지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2018.1
- 수록면
- 431 - 437 (7page)
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초록· 키워드
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Purpose: The present study aimed to investigate chromosomal microarray (CMA) and clinical data in patients with unexplaineddevelopmental delay/intellectual disability (DD/ID) accompanying dysmorphism, congenital anomalies, or epilepsy. We alsoaimed to evaluate phenotypic clues in patients with pathogenic copy number variants (CNVs). Materials and Methods: We collected clinical and CMA data from patients at Konyang University Hospital between September2013 and October 2014. We included patients who had taken the CMA test to evaluate the etiology of unexplained DD/ID. Results: All of the 50 patients identified had DD/ID. Thirty-nine patients had dysmorphism, 19 patients suffered from epilepsy,and 12 patients had congenital anomalies. Twenty-nine of the 50 patients (58%) showed abnormal results. Eighteen (36%) wereconsidered to have pathogenic CNVs. Dysmorphism (p=0.028) was significantly higher in patients with pathogenic CNVs than inthose with normal CMA. Two or more clinical features were presented by 61.9% (13/21) of the patients with normal CMA and by83.3% (15/18) of the patients with pathogenic CMA. Conclusion: Dysmorphism can be a phenotypic clue to pathogenic CNVs. Furthermore, pathogenic CNV might be more frequentlyfound if patients have two or more clinical features in addition to DD/ID.
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등록된 정보가 없습니다.
참고문헌 (19)
참고문헌 신청
Leonard H / 2002 / The epidemiology of mental retardation: challenges and opportunities in the new millennium / Ment Retard Dev Disabil Res Rev 8:117~134
Vissers LE / 2016 / Genetic studies in intellectual disability and related disorders / Nat Rev Genet 17:9~18
Rauch A / 2006 / Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation / Am J Med Genet A 140:2063~2074
Miller DT / 2010 / Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies / Am J Hum Genet 86:749~764
Battaglia A / 2013 / Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features / Eur J Paediatr Neurol 17:589~599
Vissers LE / 2016 / Genetic studies in intellectual disability and related disorders / Nat Rev Genet 17:9~18
Rauch A / 2006 / Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation / Am J Med Genet A 140:2063~2074
Miller DT / 2010 / Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies / Am J Hum Genet 86:749~764
Battaglia A / 2013 / Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features / Eur J Paediatr Neurol 17:589~599
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