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Chromosomal analyses of 4,500 cases of the peripheral blood : An experience in a single hospital for 25 years

Korean Journal of Pediatrics 2007;50(9):875-881.
Published online September 15, 2007.
Chromosomal analyses of 4,500 cases of the peripheral blood : An experience in a single hospital for 25 years
Hye-Eun Seo1, Ji Hye Lee1, Ji Yoon Kim2, Dong Ha Lee3, Heung Kyo Lee1, Kun Soo Lee1
1Department of Pediatrics, Kyungpook National University School of Medicine, Daegu, Korea
2Department of Pediatrics, Chungbuk National University School of Medicine, Cheongju, Korea
3Angel Pediatric Clinic, Daegu, Korea
말초혈액을 이용한 핵형 분석 4,500례 : 단일기관에서의 25년간의 경험
서혜은1, 이지혜1, 김지윤2, 이동하3, 이흥교1, 이건수1
1경북대학교 의과대학 소아과학교실
2충북대학교 의과대학 소아과학교실
3엔젤 소아과
Correspondence: 
Kun Soo Lee, Email: kslee@knu.ac.kr
Abstract
Purpose
: Chromosome analysis is important in genetic study and genetic counseling. This study was performed to evaluate the type and incidence of chromosome abnormalities in a single hospital for 25 years.
Methods
: Chromosome analyses were performed on peripheral blood lymphocytes, obtained from 4,856 patients with suspected chromosomal aberrations, referred to cytogenetic laboratory in Department of Pediatrics, Kyungpook National University Hospital from May 1981 to October 2005.
Results
: We analyzed 4,567 cases. Children were 3,014 cases (66.0%) and adult were 1,553 cases (34.0 %). The most common purpose of the chromosomal analysis was growth and developmental abnormality in children and infertility in adults. Total chromosomal aberration rate was 16.9% (770/4,567). Among those cases, the numerical abnormalities were 12.2% (558 cases), the structural abnormalities were 4.1% (187 cases), and others were 0.5% (25 cases). The relative frequencies of autosomal abnormalities were 6.4% (294 cases) in Down syndrome; 0.2% (7 cases) in Edwards syndrome; 0.1% (4 cases) in Patau syndrome; 0.2% (10 cases) in other abnormalities, of sex chromosome, 2.9% (131 cases) in Klinefelter syndrome; 2.2% (99 cases) in Turner syndrome; 0.2% (8 cases) in 47, XXX; 0.1% (3 cases) in 47, XYY. Among the structural abnormalities, translocation was 1.8% (84 cases), inversion was 0.8% (37 cases), deletion was 0.4% (17 cases), and insertion was 0.3% (13 cases), in order of frequency.
Conclusion
: In this study, the type, incidence and distribution of cytogenetic abnormalities by karyotype were reviewed. We hope that our study could be used as a basic information on the diagnosis, treatment and genetic counseling for chromosome abnormalities in Korea.
Key Words: Cytogenetic analysis, Chromosomal abnormality


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