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
- 2013.1
- 수록면
- 1,463 - 1,470 (8page)
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초록· 키워드
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Purpose: This study analyzed and evaluated the demographic, clinical, and cytogenetic data [G-banded karyotyping and array-based comparative genomic hybridization (array CGH)] of patients with unexplained developmental delay or intellectual disability at a single Korean institution. Materials and Methods: We collected clinical and cytogenetic data based on retrospective charts at Ajou University Medical Center, Suwon, Korea from April 2008 to March 2012. Results: A total of 190 patients were identified. Mean age was 5.1±1.87 years. Array CGH yielded abnormal results in 26 of 190 patients (13.7%). Copy number losses were about two-fold more frequent than gains. A total of 61.5% of all patients had copy number losses. The most common deletion disorders included 22q11.2 deletion syndrome, 15q11.2q12 deletion and 18q deletion syndrome. Copy number gains were identified in 34.6% of patients, and common diseases among these included Potocki-Lupski syndrome, 15q11-13 duplication syndrome and duplication 22q. Abnormal karyotype with normal array CGH results was exhibited in 2.6% of patients; theses included balanced translocation (n=2), inversion (n=2) and low-level mosaicism (n=1). Facial abnormalities (p<0.001) and failure to thrive were (p<0.001) also more frequent in the group of patients with abnormal CGH findings. Conclusion: Array CGH is a useful diagnostic tool in clinical settings in patients with developmental delay or intellectual disability combined with facial abnormalities or failure to thrive.
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참고문헌 (23)
참고문헌 신청
Ballif BC / 2007 / Development of a high-densit
Croen LA / 2001 / The epidemiology of mental retardation of unknown cause / Pediatrics 107 : E86 ~
Dale RC / 2012 / Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre study / Dev Med Child Neurol 54 :
D’Amours G / 2012 / Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype / Clin Genet 81 : 128 ~ 1
Horev G / 2011 / Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism / Proc Natl Acad Sci U S A 108 : 17076 ~ 17081
Croen LA / 2001 / The epidemiology of mental retardation of unknown cause / Pediatrics 107 : E86 ~
Dale RC / 2012 / Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre study / Dev Med Child Neurol 54 :
D’Amours G / 2012 / Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype / Clin Genet 81 : 128 ~ 1
Horev G / 2011 / Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism / Proc Natl Acad Sci U S A 108 : 17076 ~ 17081
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