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
- 2014.1
- 수록면
- 30 - 36 (7page)
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Purpose: Array comparative genomic hybridization (array-CGH) is a technique used to analyze quantitative increase or decrease of chromosomes by competitive DNA hybridization of patients and controls. This study aimed to evaluate the benefits and yield of array-CGH in comparison with conventional karyotyping in pediatric neurology patients. Materials and Methods: We included 87 patients from the pediatric neurology clinic with at least one of the following features: developmental delay, mental retardation, dysmorphic face, or epilepsy. DNA extracted from patients and controls was hybridized on the Roche NimbleGen 135K oligonucleotide array and compared with G-band karyotyping. The results were analyzed with findings reported in recent publications and internet databases. Results: Chromosome imbalances, including 9 cases detected also by G-band karyotyping, were found in 28 patients (32.2%), and at least 19 of them seemed to be causally related to the abnormal phenotypes. Regarding each clinical symptom, 26.2% of 42 developmental delay patients, 44.4% of 18 mental retardation patients, 42.9% of 28 dysmorphic face patients, and 34.6% of 26 epilepsy patients showed abnormal array results. Conclusion: Although there were relatively small number of tests in patients with pediatric neurologic disease, this study demonstrated that array-CGH is a very useful tool for clinical diagnosis of unknown genome abnormalities performed in pediatric neurology clinics.
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참고문헌 (23)
참고문헌 신청
Abou Jamra R / 2011 / Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity / Eur
Allanson JE / 2009 / Elements of morphology: standard terminology for the head and face / Am J Med Genet A 149A : 6 ~ 28
Ballif BC / 2007 / The clinical utility of enhanced subtelomeric coverage in array CGH / Am J Med Genet A 143A : 1850 ~ 1857
Hall BD / 2009 / Elements of morphology: standard terminology for the periorbital region / Am J Med Genet A 149A : 29 ~ 39
Kleefstra T / 2009 / Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core
Allanson JE / 2009 / Elements of morphology: standard terminology for the head and face / Am J Med Genet A 149A : 6 ~ 28
Ballif BC / 2007 / The clinical utility of enhanced subtelomeric coverage in array CGH / Am J Med Genet A 143A : 1850 ~ 1857
Hall BD / 2009 / Elements of morphology: standard terminology for the periorbital region / Am J Med Genet A 149A : 29 ~ 39
Kleefstra T / 2009 / Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core
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