All issues > Volume 50(9); 2007

Original Article

Korean J Pediatr. 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 HE Seo¹, Ji Hye JH Lee¹, Ji Yoon JY Kim², Dong Ha DH Lee³, Heung Kyo HK Lee¹, Kun Soo KS 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

Correspondence Kun Soo KS 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.

Keywords :Cytogenetic analysis, Chromosomal abnormality